Variant report

Variant	nsv879663
Chromosome Location	chr4:100866460-100876648
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1762)
CpG islands
(count:1467)
Chromatin interactive
region (count:75)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1762 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:100870105-100870851	K562	blood:	n/a	chr4:100870611-100870619 chr4:100870840-100870848
2	ARID3A	chr4:100866794-100867174	K562	blood:	n/a	n/a
3	ARID3A	chr4:100870078-100870519	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:100868363-100868626	K562	blood:	n/a	n/a
5	ARID3A	chr4:100868101-100868534	HepG2	liver:	n/a	n/a
6	ARID3A	chr4:100871309-100872067	HepG2	liver:	n/a	n/a
7	ATF2	chr4:100867529-100869163	GM12878	blood:	n/a	n/a
8	ATF2	chr4:100871128-100871653	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr4:100867812-100868613	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr4:100867642-100868933	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr4:100867849-100868786	GM12878	blood:	n/a	n/a
12	ATF2	chr4:100871070-100871599	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr4:100869905-100870773	GM12878	blood:	n/a	n/a
14	ATF2	chr4:100869887-100870874	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr4:100869939-100870983	GM12878	blood:	n/a	n/a
16	ATF2	chr4:100869900-100871025	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr4:100871090-100872118	GM12878	blood:	n/a	n/a
18	ATF3	chr4:100871568-100872032	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF3	chr4:100871618-100871959	K562	blood:	n/a	n/a
20	ATF3	chr4:100871121-100871599	A549	lung:	n/a	n/a
21	ATF3	chr4:100867751-100867975	K562	blood:	n/a	n/a
22	ATF3	chr4:100870113-100870581	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF3	chr4:100871607-100871896	H1-hESC	embryonic stem cell:	n/a	n/a
24	ATF3	chr4:100871195-100871623	K562	blood:	n/a	n/a
25	ATF3	chr4:100870169-100870467	K562	blood:	n/a	n/a
26	ATF3	chr4:100870062-100870574	K562	blood:	n/a	n/a
27	BACH1	chr4:100869922-100870906	K562	blood:	n/a	n/a
28	BACH1	chr4:100870166-100871420	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr4:100868024-100868492	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr4:100872403-100872411	H1-hESC	embryonic stem cell:	n/a	n/a
31	BATF	chr4:100871187-100871533	GM12878	blood:	n/a	n/a
32	BATF	chr4:100870091-100870511	GM12878	blood:	n/a	n/a
33	BCL11A	chr4:100867600-100868432	GM12878	blood:	n/a	chr4:100868305-100868314
34	BCL3	chr4:100871153-100871917	GM12878	blood:	n/a	n/a
35	BCL3	chr4:100867470-100868643	A549	lung:	n/a	chr4:100868305-100868314 chr4:100867499-100867512
36	BCL3	chr4:100867607-100868557	GM12878	blood:	n/a	chr4:100868305-100868314
37	BCL3	chr4:100867862-100868404	GM12878	blood:	n/a	chr4:100868305-100868314
38	BCL3	chr4:100867870-100868837	K562	blood:	n/a	chr4:100868305-100868314
39	BCL3	chr4:100871169-100871628	A549	lung:	n/a	n/a
40	BCL3	chr4:100867503-100869024	A549	lung:	n/a	chr4:100868305-100868314
41	BCL3	chr4:100871068-100871552	A549	lung:	n/a	n/a
42	BCL3	chr4:100867855-100868460	K562	blood:	n/a	chr4:100868305-100868314
43	BCLAF1	chr4:100867607-100868441	K562	blood:	n/a	chr4:100868305-100868314
44	BCLAF1	chr4:100871066-100871556	GM12878	blood:	n/a	n/a
45	BCLAF1	chr4:100870022-100871053	K562	blood:	n/a	n/a
46	BCLAF1	chr4:100871070-100871566	K562	blood:	n/a	n/a
47	BCLAF1	chr4:100867129-100868664	GM12878	blood:	n/a	chr4:100868305-100868314 chr4:100867499-100867512
48	BCLAF1	chr4:100867518-100868520	GM12878	blood:	n/a	chr4:100868305-100868314
49	BCLAF1	chr4:100871104-100871558	GM12878	blood:	n/a	n/a
50	BCLAF1	chr4:100867473-100868763	K562	blood:	n/a	chr4:100868305-100868314 chr4:100867499-100867512

(count:1467 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:100868748-100868798	MCF10A-Er-Src	breast:	n/a
2	chr4:100871523-100871573	HRPEpiC	eye:	n/a
3	chr4:100871315-100871365	PFSK-1	brain:	n/a
4	chr4:100868748-100868798	MCF10A-Er-Src	breast:	n/a
5	chr4:100871523-100871573	HRPEpiC	eye:	n/a
6	chr4:100871315-100871365	PFSK-1	brain:	n/a
7	chr4:100870488-100870538	BJ	skin:	n/a
8	chr4:100870323-100870373	GM19239	blood:	n/a
9	chr4:100870488-100870538	GM12891	blood:	n/a
10	chr4:100867350-100867400	GM19239	blood:	n/a
11	chr4:100870687-100870737	NHDF-neo	bronchial:	n/a
12	chr4:100867292-100867342	BE2_C	brain:	n/a
13	chr4:100870750-100870800	BJ	skin:	n/a
14	chr4:100868099-100868149	BE2_C	brain:	n/a
15	chr4:100868748-100868798	NB4	blood:	n/a
16	chr4:100870642-100870692	NH-A	brain:	n/a
17	chr4:100872167-100872217	MCF10A-Er-Src	breast:	n/a
18	chr4:100870737-100870787	GM12892	blood:	n/a
19	chr4:100867853-100867903	HRPEpiC	eye:	n/a
20	chr4:100870750-100870800	HL-60	blood:	n/a
21	chr4:100870488-100870538	U87	brain:	n/a
22	chr4:100870642-100870692	HRPEpiC	eye:	n/a
23	chr4:100870642-100870692	AG04450	lung:	fetal
24	chr4:100868748-100868798	PANC-1	pancreas:	n/a
25	chr4:100871536-100871586	AG10803	skin:	n/a
26	chr4:100867350-100867400	HPAEpiC	pulmonary alveolar:	n/a
27	chr4:100867853-100867903	HNPCEpiC	eye:	n/a
28	chr4:100871534-100871584	SK-N-MC	brain:	n/a
29	chr4:100867933-100867983	IMR90	lung:	fetal
30	chr4:100868748-100868798	GM12878	blood:	n/a
31	chr4:100870642-100870692	GM12892	blood:	n/a
32	chr4:100874826-100874876	PANC-1	pancreas:	n/a
33	chr4:100870687-100870737	HCF	heart:	n/a
34	chr4:100871150-100871200	GM12878	blood:	n/a
35	chr4:100867292-100867342	HRCEpiC	kidney:	n/a
36	chr4:100870488-100870538	AG04449	skin:	fetal
37	chr4:100872167-100872217	H1-hESC	embryonic stem cell:	embryo
38	chr4:100871484-100871534	Hepatocyte	liver:	n/a
39	chr4:100871534-100871584	HEEpiC	esophagus:	n/a
40	chr4:100868748-100868798	HEEpiC	esophagus:	n/a
41	chr4:100868132-100868182	NHBE	bronchial:	n/a
42	chr4:100870642-100870692	SK-N-MC	brain:	n/a
43	chr4:100867292-100867342	GM12878	blood:	n/a
44	chr4:100870737-100870787	H1-hESC	embryonic stem cell:	embryo
45	chr4:100871484-100871534	HEEpiC	esophagus:	n/a
46	chr4:100867350-100867400	HL-60	blood:	n/a
47	chr4:100868099-100868149	HRE	kidney:	n/a
48	chr4:100868099-100868149	GM06990	blood:	n/a
49	chr4:100870488-100870538	MCF-7	breast:	n/a
50	chr4:100871536-100871586	ovcar-3	ovarian:	n/a

(count:75 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:100483327..100486538-chr4:100869980..100873651,6	K562	blood:
2	chr4:100869528..100871186-chr4:107235611..107237116,2	K562	blood:
3	chr4:100733036..100733650-chr4:100869824..100870747,2	K562	blood:
4	chr4:99917543..99919718-chr4:100869895..100871909,3	K562	blood:
5	chr4:100480938..100486909-chr4:100867873..100873651,15	K562	blood:
6	chr4:100008800..100012914-chr4:100866380..100869813,4	K562	blood:
7	chr4:100009534..100010241-chr4:100870932..100871664,2	NB4	blood:
8	chr4:99848722..99851880-chr4:100870275..100872713,4	K562	blood:
9	chr4:100868745..100870761-chr4:100992723..100994637,2	K562	blood:
10	chr4:100840471..100849591-chr4:100866268..100873122,18	K562	blood:
11	chr4:100869894..100871447-chr4:100910758..100913096,2	K562	blood:
12	chr4:100867262..100869871-chr4:100873382..100875262,2	MCF-7	breast:
13	chr4:100008800..100013313-chr4:100866380..100869813,5	K562	blood:
14	chr1:153508215..153509143-chr4:100870830..100871549,2	Hela-S3	cervix:
15	chr14:103058428..103059398-chr4:100870932..100871754,2	NB4	blood:
16	chr15:40886023..40886562-chr4:100871091..100871607,2	Hela-S3	cervix:
17	chr4:100826139..100827985-chr4:100868304..100870406,2	K562	blood:
18	chr4:100870088..100872119-chr4:103789876..103793001,3	K562	blood:
19	chr4:100824278..100827001-chr4:100871760..100873443,2	K562	blood:
20	chr19:1269051..1269796-chr4:100870870..100871604,2	Hela-S3	cervix:
21	chr13:91999673..92001318-chr4:100870740..100872493,2	K562	blood:
22	chr4:100870166..100873808-chr4:100875168..100878123,5	MCF-7	breast:
23	chr4:100813266..100817175-chr4:100865527..100871657,11	MCF-7	breast:
24	chr1:148241097..148242092-chr4:100871015..100871613,2	Hela-S3	cervix:
25	chr4:100848205..100853069-chr4:100866591..100869335,5	MCF-7	breast:
26	chr4:100737053..100739337-chr4:100869822..100871487,2	K562	blood:
27	chr4:100735638..100738493-chr4:100866484..100869243,2	MCF-7	breast:
28	chr16:75283952..75284833-chr4:100870945..100871827,2	Hela-S3	cervix:
29	chr4:100733785..100736226-chr4:100868711..100870778,2	MCF-7	breast:
30	chr4:100737796..100739417-chr4:100869938..100872690,3	MCF-7	breast:
31	chr4:76597989..76600371-chr4:100870169..100871877,2	K562	blood:
32	chr4:100814600..100817376-chr4:100869817..100872742,4	MCF-7	breast:
33	chr21:46237469..46238317-chr4:100870908..100871458,2	Hela-S3	cervix:
34	chr4:100871315..100874297-chr4:103746830..103749271,3	K562	blood:
35	chr1:209957820..209958586-chr4:100871003..100871812,2	Hela-S3	cervix:
36	chr4:100799869..100822436-chr4:100866015..100873106,54	K562	blood:
37	chr4:100810623..100827791-chr4:100865444..100874425,55	K562	blood:
38	chr17:79280417..79282564-chr4:100871183..100873116,2	MCF-7	breast:
39	chr4:99848589..99851336-chr4:100870396..100872880,2	MCF-7	breast:
40	chr4:100870569..100872730-chr4:100873518..100875085,2	MCF-7	breast:
41	chr4:100869660..100871292-chr4:129732222..129733752,2	K562	blood:
42	chr13:37574255..37575091-chr4:100867405..100868184,2	HCT-116	colon:
43	chr4:100868036..100870819-chr4:100983381..100985122,2	K562	blood:
44	chr4:100870517..100873586-chr4:103747603..103750269,4	K562	blood:
45	chr4:99915636..99917371-chr4:100869943..100872361,4	K562	blood:
46	chr4:100784573..100786137-chr4:100870218..100872755,2	K562	blood:
47	chr4:100483953..100487087-chr4:100868908..100871675,3	MCF-7	breast:
48	chr4:100870634..100872645-chr4:100873145..100874722,2	MCF-7	breast:
49	chr3:73160104..73161068-chr4:100870920..100871540,2	Hela-S3	cervix:
50	chr17:41465854..41466380-chr4:100871612..100872319,2	NB4	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DAPP1-1	chr4:100871163-100871385	ENSG00000245322.2
2	lnc-DAPP1-2	chr4:100871517-100873711	NONHSAT097550
3	lnc-DAPP1-2	chr4:100871647-100871837	ENSG00000245322.2
4	lnc-DAPP1-2	chr4:100871680-100871837	ENSG00000245322.2
5	lnc-DAPP1-2	chr4:100871636-100873620	NR_002799

No data

Variant related genes	Relation type
DNAJB14	TF binding region
H2AFZ	TF binding region
ENSG00000245322	TF binding region
DNAJB14	CpG island
H2AFZ	CpG island
ENSG00000245322	CpG island
ENSG00000145354	chromatin interactions
ENSG00000050820	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000246090	chromatin interactions
ENSG00000248161	chromatin interactions
ENSG00000167987	chromatin interactions
ENSG00000164024	chromatin interactions
ENSG00000241185	chromatin interactions
ENSG00000197956	chromatin interactions
ENSG00000089902	chromatin interactions
ENSG00000138757	chromatin interactions
ENSG00000177337	chromatin interactions
ENSG00000151247	chromatin interactions
ENSG00000265213	chromatin interactions
ENSG00000172493	chromatin interactions
ENSG00000145331	chromatin interactions
ENSG00000246560	chromatin interactions
ENSG00000207501	chromatin interactions
ENSG00000263923	chromatin interactions
ENSG00000184900	chromatin interactions
ENSG00000164031	chromatin interactions
ENSG00000177879	chromatin interactions
ENSG00000120697	chromatin interactions
ENSG00000164032	chromatin interactions
ENSG00000185168	chromatin interactions
ENSG00000120699	chromatin interactions
ENSG00000109270	chromatin interactions
ENSG00000139644	chromatin interactions
ENSG00000107821	chromatin interactions
ENSG00000109332	chromatin interactions
ENSG00000162757	chromatin interactions
ENSG00000099622	chromatin interactions
ENSG00000197894	chromatin interactions
ENSG00000077684	chromatin interactions
ENSG00000137812	chromatin interactions
ENSG00000198858	chromatin interactions
ENSG00000138814	chromatin interactions
ENSG00000215417	chromatin interactions
ENSG00000099812	chromatin interactions
ENSG00000065559	chromatin interactions
ENSG00000138821	chromatin interactions
ENSG00000145782	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000137145	chromatin interactions
ENSG00000245322	chromatin interactions
ENSG00000138823	chromatin interactions
ENSG00000254531	chromatin interactions
ENSG00000070190	chromatin interactions
ENSG00000164022	chromatin interactions
ENSG00000250403	chromatin interactions
ENSG00000238449	chromatin interactions

Extended variants
information (count: 421 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28375729	chr4:100866460-100866461	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs562565981	chr4:100866500-100866501	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs572878340	chr4:100866559-100866560	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs76881930	chr4:100866629-100866630	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs560439218	chr4:100866658-100866659	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs141552010	chr4:100866848-100866849	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs552392612	chr4:100866896-100866897	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs183061331	chr4:100866909-100866910	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs570707186	chr4:100866975-100866976	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs538388866	chr4:100866981-100866982	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs146396556	chr4:100867005-100867006	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs568513167	chr4:100867069-100867070	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs188394662	chr4:100867085-100867086	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs376033686	chr4:100867105-100867106	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs554193423	chr4:100867112-100867113	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs78374504	chr4:100867131-100867132	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs534075625	chr4:100867248-100867249	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs558840734	chr4:100867252-100867253	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs573311203	chr4:100867265-100867266	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs543757308	chr4:100867316-100867317	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs62306064	chr4:100867333-100867334	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs533410895	chr4:100867438-100867439	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs562469708	chr4:100867466-100867467	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs574454516	chr4:100867517-100867518	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs200862319	chr4:100867547-100867548	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs377333797	chr4:100867553-100867554	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs200452972	chr4:100867612-100867613	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs377579929	chr4:100867627-100867628	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs202204125	chr4:100867669-100867670	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs13140284	chr4:100867674-100867675	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs370308000	chr4:100867684-100867685	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs200664201	chr4:100867693-100867694	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs368801497	chr4:100867697-100867698	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs372615832	chr4:100867714-100867715	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs139791253	chr4:100867725-100867726	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs374285512	chr4:100867734-100867735	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs546092392	chr4:100867757-100867758	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs564398598	chr4:100867807-100867808	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs531827004	chr4:100867852-100867853	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs550031527	chr4:100867863-100867864	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs550327006	chr4:100867874-100867875	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs112389785	chr4:100867981-100867982	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs368625421	chr4:100868012-100868013	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs111410193	chr4:100868044-100868045	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs547856536	chr4:100868068-100868069	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs568277286	chr4:100868081-100868082	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs371077668	chr4:100868125-100868126	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs558904157	chr4:100868174-100868175	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs570699788	chr4:100868179-100868180	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs192640615	chr4:100868197-100868198	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:926 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100816000-100867000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:100816000-100867000	Weak transcription	Lung	lung
3	chr4:100829200-100866600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:100840200-100867000	Weak transcription	Gastric	stomach
5	chr4:100840400-100866800	Weak transcription	Aorta	Aorta
6	chr4:100840400-100867000	Weak transcription	Esophagus	oesophagus
7	chr4:100859000-100867000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:100860400-100866800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr4:100862000-100866600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr4:100864200-100866800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr4:100864200-100866800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr4:100864400-100866600	Enhancers	Brain Cingulate Gyrus	brain
13	chr4:100864600-100866600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr4:100864800-100866600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:100864800-100866800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr4:100864800-100866800	Enhancers	Primary B cells from peripheral blood	blood
17	chr4:100864800-100867000	Enhancers	Small Intestine	intestine
18	chr4:100865000-100866600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:100865200-100868000	Active TSS	GM12878-XiMat	blood
20	chr4:100865400-100866600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr4:100865400-100866600	Enhancers	Fetal Intestine Small	intestine
22	chr4:100865400-100866800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr4:100865400-100868200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:100865600-100866600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr4:100865600-100866600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:100865800-100866600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:100865800-100866600	Enhancers	Right Ventricle	heart
28	chr4:100865800-100868600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:100866000-100866600	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr4:100866000-100866600	Enhancers	Liver	Liver
31	chr4:100866000-100866600	Enhancers	Colonic Mucosa	Colon
32	chr4:100866000-100866600	Enhancers	Fetal Muscle Leg	muscle
33	chr4:100866000-100866600	Weak transcription	Placenta	Placenta
34	chr4:100866000-100866600	Weak transcription	Psoas Muscle	Psoas
35	chr4:100866000-100866600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr4:100866000-100866600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr4:100866000-100866600	Active TSS	Hela-S3	cervix
38	chr4:100866000-100866800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:100866000-100866800	Weak transcription	Left Ventricle	heart
40	chr4:100866000-100867000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:100866000-100867000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:100866000-100867000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr4:100866000-100867000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:100866000-100867000	Weak transcription	Pancreas	Pancrea
45	chr4:100866000-100867000	Flanking Active TSS	HUVEC	blood vessel
46	chr4:100866000-100867200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr4:100866000-100867200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr4:100866000-100867200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:100866000-100867200	Flanking Active TSS	Dnd41	blood
50	chr4:100866000-100867200	Active TSS	HepG2	liver

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