Variant report

Variant	esv3421073
Chromosome Location	chr4:106393528-106396476
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:771)
CpG islands
(count:793)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:771 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:106394895-106395464	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:106394282-106394604	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:106395152-106395423	K562	blood:	n/a	n/a
4	ARID3A	chr4:106394489-106394629	K562	blood:	n/a	n/a
5	ATF2	chr4:106394782-106395524	GM12878	blood:	n/a	n/a
6	ATF2	chr4:106394176-106394801	GM12878	blood:	n/a	n/a
7	ATF2	chr4:106394994-106395501	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr4:106395083-106395509	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr4:106395057-106395509	GM12878	blood:	n/a	n/a
10	ATF3	chr4:106395029-106395347	K562	blood:	n/a	n/a
11	BACH1	chr4:106394962-106395406	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr4:106395128-106395430	GM12878	blood:	n/a	n/a
13	BCL3	chr4:106394646-106395427	GM12878	blood:	n/a	n/a
14	BCL3	chr4:106394947-106395317	A549	lung:	n/a	n/a
15	BCLAF1	chr4:106394914-106395518	GM12878	blood:	n/a	n/a
16	BCLAF1	chr4:106394910-106395462	GM12878	blood:	n/a	n/a
17	BCLAF1	chr4:106393998-106394911	GM12878	blood:	n/a	chr4:106394329-106394338
18	BHLHE40	chr4:106394218-106395427	K562	blood:	n/a	n/a
19	BHLHE40	chr4:106394641-106395398	HepG2	liver:	n/a	n/a
20	BHLHE40	chr4:106394243-106395466	GM12878	blood:	n/a	n/a
21	BRCA1	chr4:106394554-106395335	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr4:106394815-106395437	HepG2	liver:	n/a	n/a
23	BRCA1	chr4:106394770-106395431	H1-hESC	embryonic stem cell:	n/a	n/a
24	BRCA1	chr4:106394740-106395366	GM12878	blood:	n/a	n/a
25	CBX3	chr4:106394936-106395545	K562	blood:	n/a	n/a
26	CBX3	chr4:106394244-106394909	K562	blood:	n/a	n/a
27	CBX3	chr4:106394305-106395628	HCT-116	colon:	n/a	n/a
28	CBX3	chr4:106395064-106395338	K562	blood:	n/a	n/a
29	CCNT2	chr4:106394511-106395438	K562	blood:	n/a	n/a
30	CEBPB	chr4:106395145-106395186	K562	blood:	n/a	n/a
31	CEBPB	chr4:106394941-106395537	GM12878	blood:	n/a	n/a
32	CEBPB	chr4:106394299-106395535	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr4:106394927-106395548	HepG2	liver:	n/a	n/a
34	CEBPB	chr4:106394511-106394746	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPD	chr4:106394982-106395285	HepG2	liver:	n/a	n/a
36	CEBPD	chr4:106394628-106394850	HepG2	liver:	n/a	n/a
37	CHD1	chr4:106393823-106395387	GM12878	blood:	n/a	n/a
38	CHD1	chr4:106394735-106395200	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr4:106394521-106395410	HepG2	liver:	n/a	n/a
40	CHD2	chr4:106394424-106395462	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr4:106394221-106395444	K562	blood:	n/a	n/a
42	CHD2	chr4:106394045-106395465	GM12878	blood:	n/a	n/a
43	CHD2	chr4:106394123-106395435	H1-hESC	embryonic stem cell:	n/a	n/a
44	CREB1	chr4:106394941-106395452	H1-hESC	embryonic stem cell:	n/a	n/a
45	CREB1	chr4:106394215-106395592	HepG2	liver:	n/a	n/a
46	CREB1	chr4:106394117-106395538	GM12878	blood:	n/a	n/a
47	CREB1	chr4:106394896-106395367	A549	lung:	n/a	n/a
48	CREB1	chr4:106394936-106395509	K562	blood:	n/a	n/a
49	CREB1	chr4:106394282-106395584	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr4:106394356-106394814	H1-hESC	embryonic stem cell:	n/a	n/a

(count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:106394821-106394871	HepG2	liver:	n/a
2	chr4:106394821-106394871	HNPCEpiC	eye:	n/a
3	chr4:106395310-106395360	BE2_C	brain:	n/a
4	chr4:106395029-106395079	PANC-1	pancreas:	n/a
5	chr4:106395307-106395357	HCM	heart:	n/a
6	chr4:106395314-106395364	NB4	blood:	n/a
7	chr4:106395310-106395360	A549	lung:	n/a
8	chr4:106395383-106395433	HUVEC	blood vessel:	n/a
9	chr4:106394391-106394441	HCM	heart:	n/a
10	chr4:106395383-106395433	BJ	skin:	n/a
11	chr4:106395119-106395169	SK-N-MC	brain:	n/a
12	chr4:106395321-106395371	GM12892	blood:	n/a
13	chr4:106395643-106395693	NHBE	bronchial:	n/a
14	chr4:106395314-106395364	AG09309	skin:	n/a
15	chr4:106395029-106395079	SK-N-SH	brain:	n/a
16	chr4:106394821-106394871	NH-A	brain:	n/a
17	chr4:106394821-106394871	PrEC	prostate:	n/a
18	chr4:106394391-106394441	HCF	heart:	n/a
19	chr4:106395314-106395364	HCPEpiC	choroid plexus:	n/a
20	chr4:106394821-106394871	GM19239	blood:	n/a
21	chr4:106395321-106395371	NHDF-neo	bronchial:	n/a
22	chr4:106394692-106394742	HRPEpiC	eye:	n/a
23	chr4:106395314-106395364	SK-N-MC	brain:	n/a
24	chr4:106395314-106395364	GM06990	blood:	n/a
25	chr4:106395595-106395645	Hela-S3	cervix:	n/a
26	chr4:106395307-106395357	SAEC	small airway:	n/a
27	chr4:106395119-106395169	ovcar-3	ovarian:	n/a
28	chr4:106395307-106395357	NB4	blood:	n/a
29	chr4:106395643-106395693	MCF-7	breast:	n/a
30	chr4:106394391-106394441	HUVEC	blood vessel:	n/a
31	chr4:106395402-106395452	SK-N-SH	brain:	n/a
32	chr4:106394391-106394441	HCT-116	colon:	n/a
33	chr4:106395402-106395452	HepG2	liver:	n/a
34	chr4:106395402-106395452	BE2_C	brain:	n/a
35	chr4:106395383-106395433	HCF	heart:	n/a
36	chr4:106395119-106395169	AG04450	lung:	fetal
37	chr4:106395307-106395357	HRE	kidney:	n/a
38	chr4:106395029-106395079	SAEC	small airway:	n/a
39	chr4:106394692-106394742	Hela-S3	cervix:	n/a
40	chr4:106394821-106394871	K562	blood:	n/a
41	chr4:106395643-106395693	CMK	blood:	n/a
42	chr4:106395595-106395645	ECC-1	luminal epithelium:	n/a
43	chr4:106395310-106395360	HUVEC	blood vessel:	n/a
44	chr4:106395119-106395169	HPAEpiC	pulmonary alveolar:	n/a
45	chr4:106395595-106395645	PrEC	prostate:	n/a
46	chr4:106395595-106395645	GM12891	blood:	n/a
47	chr4:106395402-106395452	HCT-116	colon:	n/a
48	chr4:106395643-106395693	HAEpiC	amniotic membrane:	n/a
49	chr4:106395383-106395433	AG04449	skin:	fetal
50	chr4:106395307-106395357	GM12891	blood:	n/a

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:106066586..106070319-chr4:106392729..106397085,7	MCF-7	breast:
2	chr4:106319989..106322033-chr4:106394167..106395857,2	K562	blood:
3	chr19:39340223..39340777-chr4:106394690..106395372,2	NB4	blood:
4	chr4:106066580..106068131-chr4:106393738..106396130,2	K562	blood:
5	chr4:106373864..106376614-chr4:106391989..106394662,2	MCF-7	breast:
6	chr4:106393672..106395391-chr4:106404396..106406000,2	MCF-7	breast:
7	chr4:106394178..106395006-chrX:12993425..12994167,2	Hela-S3	cervix:
8	chr4:106394755..106397717-chr4:106629970..106632343,2	MCF-7	breast:
9	chr4:106393178..106395974-chr4:106403458..106406397,4	K562	blood:
10	chr4:105848795..105851289-chr4:106392054..106394222,2	MCF-7	breast:
11	chr4:106368037..106370559-chr4:106393297..106395424,2	MCF-7	breast:
12	chr4:106046108..106050165-chr4:106391446..106394724,4	MCF-7	breast:
13	chr4:106394828..106395492-chr4:106629382..106630203,2	K562	blood:
14	chr4:106393678..106396634-chr4:106628055..106631625,3	K562	blood:
15	chr4:105817842..105820618-chr4:106392954..106394791,2	MCF-7	breast:
16	chr4:105893495..105895146-chr4:106393920..106395691,2	MCF-7	breast:
17	chr4:106066539..106069010-chr4:106392150..106395317,5	MCF-7	breast:
18	chr4:106393662..106395828-chr4:106816451..106818779,3	MCF-7	breast:
19	chr4:106064984..106068563-chr4:106391196..106395238,6	K562	blood:
20	chr17:56735181..56736729-chr4:106394979..106396822,2	MCF-7	breast:
21	chr4:106066483..106069673-chr4:106390838..106393733,3	K562	blood:
22	chr4:106393199..106396342-chr4:106628328..106631625,4	K562	blood:
23	chr1:28969282..28969891-chr4:106394460..106395081,2	Hela-S3	cervix:
24	chr16:30389015..30389773-chr4:106394499..106395109,2	NB4	blood:
25	chr3:73160092..73160604-chr4:106394372..106395020,2	Hela-S3	cervix:
26	chr1:149223985..149224640-chr4:106394223..106395221,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
PPA2	TF binding region
PPA2	CpG island
ENSG00000120656	chromatin interactions
ENSG00000138785	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000180035	chromatin interactions
ENSG00000229388	chromatin interactions
ENSG00000168743	chromatin interactions
ENSG00000104824	chromatin interactions
ENSG00000168769	chromatin interactions
ENSG00000205542	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000138780	chromatin interactions
ENSG00000249264	chromatin interactions
ENSG00000138777	chromatin interactions
ENSG00000248373	chromatin interactions

Extended variants
information (count: 143 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12498981	chr4:106393547-106393548	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192258143	chr4:106393574-106393575	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs75846266	chr4:106393594-106393595	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs546864246	chr4:106393635-106393636	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs566764689	chr4:106393649-106393650	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs183630084	chr4:106393656-106393657	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs200395613	chr4:106393676-106393677	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs558895958	chr4:106393687-106393688	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs116732038	chr4:106393713-106393714	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs187447403	chr4:106393728-106393729	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs17035640	chr4:106393822-106393823	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574506129	chr4:106393847-106393848	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs112404814	chr4:106393853-106393854	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs140918152	chr4:106393869-106393870	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs540421267	chr4:106393882-106393883	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs553984057	chr4:106393893-106393894	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs199917508	chr4:106393897-106393898	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs577029559	chr4:106393908-106393909	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs80168104	chr4:106393913-106393914	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs78439825	chr4:106393971-106393972	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs58230582	chr4:106393985-106393986	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs531571445	chr4:106393986-106393987	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs542242846	chr4:106393997-106393998	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs562020066	chr4:106394002-106394003	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs4699178	chr4:106394031-106394032	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs547921846	chr4:106394035-106394036	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs568147034	chr4:106394036-106394037	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs560343711	chr4:106394113-106394114	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs534260281	chr4:106394133-106394134	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs142299621	chr4:106394178-106394179	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs145941505	chr4:106394229-106394230	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs191891029	chr4:106394248-106394249	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs57937565	chr4:106394253-106394254	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs73836265	chr4:106394272-106394273	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs377346197	chr4:106394307-106394308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs533600384	chr4:106394372-106394373	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs536488956	chr4:106394378-106394379	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs2074396	chr4:106394380-106394381	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs576994517	chr4:106394383-106394384	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs58616324	chr4:106394385-106394386	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs539659056	chr4:106394403-106394404	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs556563647	chr4:106394418-106394419	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs184232944	chr4:106394433-106394434	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs541240429	chr4:106394449-106394450	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs187060896	chr4:106394478-106394479	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs562074332	chr4:106394509-106394510	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs572476150	chr4:106394579-106394580	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs375907149	chr4:106394596-106394597	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs376517186	chr4:106394607-106394608	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs200758889	chr4:106394616-106394617	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
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
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106377000-106394000	Weak transcription	Gastric	stomach
2	chr4:106381200-106394000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:106385000-106394000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:106386400-106394200	Weak transcription	Spleen	Spleen
5	chr4:106388400-106394000	Weak transcription	Lung	lung
6	chr4:106388600-106394000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:106391200-106393600	Enhancers	Primary B cells from cord blood	blood
8	chr4:106392200-106394200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr4:106392200-106394600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:106392400-106393600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr4:106392400-106393600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr4:106392400-106393600	Enhancers	Fetal Brain Male	brain
13	chr4:106392400-106394000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:106392400-106394000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr4:106392400-106394000	Flanking Active TSS	NHEK	skin
16	chr4:106392600-106393600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr4:106392600-106393800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr4:106392600-106393800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr4:106392600-106393800	Flanking Active TSS	HepG2	liver
20	chr4:106392600-106394000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:106392600-106394000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:106392600-106394000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr4:106392600-106394000	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr4:106392600-106394000	Flanking Active TSS	Rectal Smooth Muscle	rectum
25	chr4:106392600-106394000	Flanking Active TSS	NHDF-Ad	bronchial
26	chr4:106392600-106394200	Flanking Active TSS	Brain Anterior Caudate	brain
27	chr4:106392600-106394200	Flanking Active TSS	HUVEC	blood vessel
28	chr4:106392600-106394400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:106392600-106394400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr4:106392600-106394400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr4:106392600-106394400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:106392600-106394400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:106392600-106394400	Flanking Active TSS	Liver	Liver
34	chr4:106392600-106394400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr4:106392600-106394400	Flanking Active TSS	NHLF	lung
36	chr4:106392600-106394600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:106392600-106394600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr4:106392800-106393600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:106392800-106393600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr4:106392800-106393600	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr4:106392800-106393800	Flanking Active TSS	Fetal Intestine Small	intestine
42	chr4:106392800-106393800	Enhancers	Fetal Thymus	thymus
43	chr4:106392800-106393800	Flanking Active TSS	HSMM	muscle
44	chr4:106392800-106394000	Enhancers	Primary B cells from peripheral blood	blood
45	chr4:106392800-106394000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr4:106392800-106394000	Flanking Active TSS	Hela-S3	cervix
47	chr4:106392800-106394000	Flanking Active TSS	NH-A	brain
48	chr4:106392800-106394200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr4:106392800-106394200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr4:106392800-106395600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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