Variant report

Variant	nsv1009514
Chromosome Location	chr2:128299079-128420654
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1916)
CpG islands
(count:3116)
Chromatin interactive
region (count:137)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1916 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:128349048-128349416	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:128402852-128402944	HepG2	liver:	n/a	n/a
3	ATF1	chr2:128358801-128358803	K562	blood:	n/a	n/a
4	ATF1	chr2:128395319-128395639	K562	blood:	n/a	n/a
5	ATF1	chr2:128300470-128300913	K562	blood:	n/a	n/a
6	ATF2	chr2:128390643-128391096	GM12878	blood:	n/a	n/a
7	ATF2	chr2:128348914-128349416	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr2:128320914-128321660	GM12878	blood:	n/a	n/a
9	ATF2	chr2:128395213-128395669	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr2:128407243-128407554	GM12878	blood:	n/a	n/a
11	ATF2	chr2:128395260-128395633	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr2:128321060-128321609	GM12878	blood:	n/a	n/a
13	ATF3	chr2:128401745-128401880	K562	blood:	n/a	n/a
14	BACH1	chr2:128343035-128343230	K562	blood:	n/a	n/a
15	BACH1	chr2:128349033-128349329	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr2:128377445-128377648	GM12878	blood:	n/a	chr2:128377561-128377570
17	BATF	chr2:128395358-128395563	GM12878	blood:	n/a	n/a
18	BATF	chr2:128321136-128321858	GM12878	blood:	n/a	n/a
19	BATF	chr2:128321260-128321654	GM12878	blood:	n/a	n/a
20	BCL11A	chr2:128321108-128321562	GM12878	blood:	n/a	n/a
21	BCL11A	chr2:128321116-128321593	GM12878	blood:	n/a	n/a
22	BCL11A	chr2:128390676-128391052	GM12878	blood:	n/a	n/a
23	BCL3	chr2:128419470-128419729	GM12878	blood:	n/a	n/a
24	BCLAF1	chr2:128321005-128321709	GM12878	blood:	n/a	n/a
25	BCLAF1	chr2:128349073-128349341	GM12878	blood:	n/a	n/a
26	BHLHE40	chr2:128396128-128396261	K562	blood:	n/a	n/a
27	BHLHE40	chr2:128407395-128407643	GM12878	blood:	n/a	n/a
28	BHLHE40	chr2:128321075-128321680	GM12878	blood:	n/a	n/a
29	BHLHE40	chr2:128349045-128349370	K562	blood:	n/a	n/a
30	BHLHE40	chr2:128407298-128407596	K562	blood:	n/a	n/a
31	BHLHE40	chr2:128385528-128385592	K562	blood:	n/a	n/a
32	BHLHE40	chr2:128300682-128300922	K562	blood:	n/a	n/a
33	BHLHE40	chr2:128395747-128395861	K562	blood:	n/a	n/a
34	BHLHE40	chr2:128420479-128420809	HepG2	liver:	n/a	n/a
35	BHLHE40	chr2:128409996-128410017	K562	blood:	n/a	n/a
36	BRCA1	chr2:128318445-128318564	HepG2	liver:	n/a	n/a
37	BRCA1	chr2:128407346-128407624	Hela-S3	cervix:	n/a	n/a
38	CBX3	chr2:128300436-128301011	K562	blood:	n/a	n/a
39	CBX3	chr2:128348982-128349342	K562	blood:	n/a	n/a
40	CCNT2	chr2:128404581-128404775	K562	blood:	n/a	chr2:128404664-128404684
41	CCNT2	chr2:128300633-128300900	K562	blood:	n/a	n/a
42	CCNT2	chr2:128395299-128395499	K562	blood:	n/a	n/a
43	CEBPB	chr2:128301640-128301840	K562	blood:	n/a	chr2:128301707-128301718
44	CEBPB	chr2:128349084-128349423	HepG2	liver:	n/a	n/a
45	CEBPB	chr2:128416184-128416557	HepG2	liver:	n/a	chr2:128416367-128416380
46	CEBPB	chr2:128395924-128396209	H1-hESC	embryonic stem cell:	n/a	chr2:128396018-128396029
47	CEBPB	chr2:128395864-128396191	HepG2	liver:	n/a	chr2:128396018-128396029
48	CEBPB	chr2:128303168-128303426	K562	blood:	n/a	chr2:128303314-128303325
49	CEBPB	chr2:128317875-128318064	HepG2	liver:	n/a	n/a
50	CEBPB	chr2:128395370-128395570	Hela-S3	cervix:	n/a	n/a

(count:3116 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:128380062-128380112	HCT-116	colon:	n/a
2	chr2:128413009-128413059	HPAEpiC	pulmonary alveolar:	n/a
3	chr2:128389103-128389153	K562	blood:	n/a
4	chr2:128409268-128409318	GM12891	blood:	n/a
5	chr2:128381689-128381739	SKMC	muscle:	n/a
6	chr2:128380062-128380112	HCT-116	colon:	n/a
7	chr2:128413009-128413059	HPAEpiC	pulmonary alveolar:	n/a
8	chr2:128389103-128389153	K562	blood:	n/a
9	chr2:128409268-128409318	GM12891	blood:	n/a
10	chr2:128381689-128381739	SKMC	muscle:	n/a
11	chr2:128381689-128381739	HL-60	blood:	n/a
12	chr2:128354089-128354139	RPTEC	kidney:	n/a
13	chr2:128381877-128381927	HRE	kidney:	n/a
14	chr2:128381835-128381885	AG09309	skin:	n/a
15	chr2:128334565-128334615	HUVEC	blood vessel:	n/a
16	chr2:128350572-128350622	HEK293	kidney:	embryo
17	chr2:128404486-128404536	SK-N-SH	brain:	n/a
18	chr2:128409012-128409062	NHDF-neo	bronchial:	n/a
19	chr2:128381745-128381795	RPTEC	kidney:	n/a
20	chr2:128331478-128331528	NH-A	brain:	n/a
21	chr2:128396059-128396109	IMR90	lung:	fetal
22	chr2:128396059-128396109	HCPEpiC	choroid plexus:	n/a
23	chr2:128331478-128331528	HMEC	breast:	n/a
24	chr2:128331593-128331643	GM12891	blood:	n/a
25	chr2:128407154-128407204	Jurkat	blood:	n/a
26	chr2:128403710-128403760	HCM	heart:	n/a
27	chr2:128334565-128334615	NB4	blood:	n/a
28	chr2:128350306-128350356	HNPCEpiC	eye:	n/a
29	chr2:128350442-128350492	HIPEpiC	eye:	n/a
30	chr2:128403286-128403336	HCM	heart:	n/a
31	chr2:128389207-128389257	HMEC	breast:	n/a
32	chr2:128402294-128402344	NHBE	bronchial:	n/a
33	chr2:128347901-128347951	NH-A	brain:	n/a
34	chr2:128403286-128403336	AG10803	skin:	n/a
35	chr2:128348899-128348949	HEEpiC	esophagus:	n/a
36	chr2:128407068-128407118	PANC-1	pancreas:	n/a
37	chr2:128350306-128350356	HPAEpiC	pulmonary alveolar:	n/a
38	chr2:128350442-128350492	GM19239	blood:	n/a
39	chr2:128334565-128334615	NHBE	bronchial:	n/a
40	chr2:128389103-128389153	GM12878	blood:	n/a
41	chr2:128410803-128410853	Hela-S3	cervix:	n/a
42	chr2:128407068-128407118	HRPEpiC	eye:	n/a
43	chr2:128350572-128350622	SK-N-SH_RA	brain:	n/a
44	chr2:128403710-128403760	HMEC	breast:	n/a
45	chr2:128351542-128351592	SK-N-SH	brain:	n/a
46	chr2:128410689-128410739	HCF	heart:	n/a
47	chr2:128403084-128403134	HCT-116	colon:	n/a
48	chr2:128388876-128388926	Hela-S3	cervix:	n/a
49	chr2:128351542-128351592	GM12878	blood:	n/a
50	chr2:128403084-128403134	HMEC	breast:	n/a

(count:137 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr2:128283723..128286388-chr2:128321696..128326699,5	MCF-7	breast:
2	chr2:128338620..128340523-chr2:128457766..128459740,2	MCF-7	breast:
3	chr2:128317558..128319788-chr2:128331123..128332955,2	K562	blood:
4	chr2:128379959..128382926-chr2:128418686..128421294,2	K562	blood:
5	chr2:128378588..128380844-chr2:128382529..128385323,2	K562	blood:
6	chr2:128305790..128308359-chr2:128310339..128312423,2	K562	blood:
7	chr2:128380533..128382202-chr2:128389367..128391180,2	K562	blood:
8	chr2:128382408..128382928-chr21:9825403..9826159,2	K562	blood:
9	chr2:128389859..128392516-chr2:128399643..128401704,2	K562	blood:
10	chr2:128349507..128351016-chr2:128354758..128356667,2	K562	blood:
11	chr2:128348828..128349586-chr2:128398143..128398870,2	MCF-7	breast:
12	chr2:128376581..128378906-chr2:128380891..128383389,2	K562	blood:
13	chr2:128415218..128417716-chr2:128422591..128424931,2	K562	blood:
14	chr2:128380533..128382202-chr2:128389367..128391180,2	K562	blood:
15	chr2:128385318..128388983-chr2:128393086..128394739,3	MCF-7	breast:
16	chr2:128378927..128382378-chr2:128457870..128460162,3	MCF-7	breast:
17	chr2:128396263..128398888-chr2:128399161..128401002,2	MCF-7	breast:
18	chr2:128340070..128342294-chr2:128344591..128347137,2	K562	blood:
19	chr2:128266465..128268562-chr2:128395784..128397620,2	MCF-7	breast:
20	chr2:128367073..128368593-chr2:128390549..128393243,2	K562	blood:
21	chr2:128283737..128286203-chr2:128392070..128394407,2	MCF-7	breast:
22	chr2:128399188..128401329-chr2:128456948..128459490,2	MCF-7	breast:
23	chr2:128395249..128397685-chr2:128567372..128568887,2	K562	blood:
24	chr2:128286477..128289407-chr2:128321219..128322909,3	MCF-7	breast:
25	chr2:128283198..128285584-chr2:128297350..128300267,2	MCF-7	breast:
26	chr2:128282097..128285637-chr2:128404430..128407235,3	MCF-7	breast:
27	chr2:128348782..128349711-chr2:128407012..128408114,6	MCF-7	breast:
28	chr2:128294218..128296845-chr2:128297696..128300432,3	K562	blood:
29	chr2:128411945..128414716-chr2:128419531..128422215,2	MCF-7	breast:
30	chr2:128372104..128373861-chr2:128379908..128381447,2	K562	blood:
31	chr2:128289324..128291170-chr2:128329795..128331725,2	MCF-7	breast:
32	chr2:128398549..128402607-chr2:128405867..128407455,4	MCF-7	breast:
33	chr2:128410612..128413068-chr2:128414602..128416410,3	K562	blood:
34	chr2:128386978..128389867-chr2:128392766..128396164,5	MCF-7	breast:
35	chr2:128388188..128389976-chr2:128397282..128399225,3	MCF-7	breast:
36	chr2:128367073..128368593-chr2:128390549..128393243,2	K562	blood:
37	chr2:128348935..128349717-chr2:128397753..128398634,2	MCF-7	breast:
38	chr2:128402343..128404793-chr2:128407484..128409770,2	MCF-7	breast:
39	chr2:128368208..128370995-chr2:128394997..128397698,2	K562	blood:
40	chr2:128380865..128383571-chr2:128398267..128401002,2	MCF-7	breast:
41	chr2:128377789..128381819-chr2:128383381..128385933,3	MCF-7	breast:
42	chr2:128393595..128398988-chr2:128401355..128406842,9	K562	blood:
43	chr2:128410400..128414461-chr2:128416750..128421602,4	K562	blood:
44	chr2:128356185..128358427-chr2:128361989..128364155,2	MCF-7	breast:
45	chr2:128336062..128337823-chr2:128338905..128341010,2	K562	blood:
46	chr2:128282410..128284022-chr2:128394708..128396398,2	MCF-7	breast:
47	chr2:128388582..128390159-chr2:128390369..128392220,2	K562	blood:
48	chr2:128281499..128284149-chr2:128402816..128405194,3	K562	blood:
49	chr2:128379959..128382926-chr2:128418686..128421294,2	K562	blood:
50	chr2:128387080..128389116-chr2:128389708..128392331,3	MCF-7	breast:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IWS1-1	chr2:128317620-128319553	ENSG00000250457
2	lnc-IWS1-1	chr2:128317597-128318108	ucscGeneNc_uc010fmc_1
3	lnc-LIMS2-3	chr2:128345637-128345930	expReg_chr2_9243_-
4	lnc-GPR17-1	chr2:128361166-128363412	l_1945_chr2:128361165-128366776_ovary
5	lnc-LIMS2-2	chr2:128383572-128384423	ENSG00000272789.1
6	lnc-IWS1-1	chr2:128322263-128322364	ENSG00000250457
7	lnc-GPR17-2	chr2:128360094-128360482	expReg_chr2_9268_+
8	lnc-LIMS2-1	chr2:128394380-128394796	NONHSAT074176
9	lnc-GPR17-1	chr2:128366260-128366776	l_1945_chr2:128361165-128366776_ovary
10	lnc-IWS1-1	chr2:128318774-128319641	ucscGeneNc_uc010fmc_1
11	lnc-LIMS2-1	chr2:128391285-128394251	NONHSAT074176

No data

Variant related genes	Relation type
GPR17	TF binding region
LIMS2	TF binding region
ENSG00000272789	TF binding region
MYO7B	TF binding region
GPR17	CpG island
LIMS2	CpG island
ENSG00000272789	CpG island
MYO7B	CpG island
ENSG00000072163	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000169994	chromatin interactions
ENSG00000144230	chromatin interactions
ENSG00000136709	chromatin interactions
ENSG00000272789	chromatin interactions
ENSG00000173349	chromatin interactions
ENSG00000264462	chromatin interactions
ENSG00000163166	chromatin interactions
DDX10	miRNA target sites
RTN4	miRNA target sites

Extended variants
information (count: 5815 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:5815 , 50 per page) page: 1 2 3 4 5 6 7 ... 117

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2163348	chr2:128299079-128299080	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571583282	chr2:128299099-128299100	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs6747979	chr2:128299113-128299114	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs148189376	chr2:128299178-128299179	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs554929614	chr2:128299201-128299202	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs375929188	chr2:128299202-128299203	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs567051387	chr2:128299246-128299247	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs558581244	chr2:128299373-128299374	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs34737383	chr2:128299377-128299378	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs11685630	chr2:128299404-128299405	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs13013022	chr2:128299419-128299420	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs140303765	chr2:128299428-128299429	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs557404946	chr2:128299442-128299443	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs574011915	chr2:128299456-128299457	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542887108	chr2:128299504-128299505	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs112916383	chr2:128299519-128299520	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs568993018	chr2:128299526-128299527	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs1864552	chr2:128299527-128299528	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs201681858	chr2:128299549-128299550	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs5834177	chr2:128299550-128299551	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs397689009	chr2:128299552-128299553	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs111735760	chr2:128299553-128299554	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs544450620	chr2:128299565-128299566	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561039621	chr2:128299580-128299581	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs529453396	chr2:128299585-128299586	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs13399231	chr2:128299660-128299661	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs145342340	chr2:128299686-128299687	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs188268995	chr2:128299687-128299688	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs528510019	chr2:128299697-128299698	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs74998977	chr2:128299699-128299700	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs571644886	chr2:128299718-128299719	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs531088301	chr2:128299721-128299722	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs550810392	chr2:128299731-128299732	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs34464364	chr2:128299754-128299755	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs142099735	chr2:128299762-128299763	Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs111384943	chr2:128299812-128299813	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs536403855	chr2:128299824-128299825	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs553034907	chr2:128299906-128299907	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs370937207	chr2:128299907-128299908	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs138311299	chr2:128299919-128299920	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs369208237	chr2:128299939-128299940	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs146393610	chr2:128299943-128299944	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs113583835	chr2:128299945-128299946	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs530643903	chr2:128299950-128299951	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs372231312	chr2:128299972-128299973	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs558568167	chr2:128299982-128299983	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs13424229	chr2:128300004-128300005	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs372691089	chr2:128300031-128300032	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs544513684	chr2:128300055-128300056	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs181016880	chr2:128300072-128300073	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2509 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128284600-128321200	Weak transcription	Spleen	Spleen
2	chr2:128285400-128306600	Weak transcription	Right Atrium	heart
3	chr2:128296000-128299600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr2:128296000-128303000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:128298200-128301800	Genic enhancers	Fetal Intestine Small	intestine
6	chr2:128298600-128299200	Genic enhancers	Rectal Mucosa Donor 31	rectum
7	chr2:128298600-128299800	Genic enhancers	Fetal Intestine Large	intestine
8	chr2:128298800-128300200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:128298800-128300800	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr2:128299000-128299600	Enhancers	Small Intestine	intestine
11	chr2:128299000-128300000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:128299000-128300000	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr2:128299000-128300200	Enhancers	Colonic Mucosa	Colon
14	chr2:128299200-128299800	Enhancers	Adipose Nuclei	Adipose
15	chr2:128299200-128300000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr2:128299200-128300400	Enhancers	Fetal Muscle Trunk	muscle
17	chr2:128299200-128300600	Enhancers	Fetal Muscle Leg	muscle
18	chr2:128299400-128299800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:128299400-128300000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:128299400-128301200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:128299600-128300000	Bivalent Enhancer	HepG2	liver
22	chr2:128299600-128300600	Enhancers	Duodenum Mucosa	Duodenum
23	chr2:128299600-128301200	Enhancers	K562	blood
24	chr2:128299800-128300000	Bivalent Enhancer	Fetal Brain Female	brain
25	chr2:128299800-128300000	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
26	chr2:128299800-128300200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:128300000-128300200	Flanking Active TSS	Fetal Intestine Large	intestine
28	chr2:128300000-128300600	Enhancers	HepG2	liver
29	chr2:128300000-128300800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr2:128300000-128300800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr2:128300200-128301400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:128300200-128301800	Enhancers	Fetal Intestine Large	intestine
33	chr2:128300200-128320600	Weak transcription	Colonic Mucosa	Colon
34	chr2:128300600-128301000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr2:128300600-128301200	Flanking Active TSS	HepG2	liver
36	chr2:128300600-128307200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr2:128300800-128301400	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr2:128300800-128304800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr2:128301400-128301600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:128301400-128317000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr2:128301800-128302600	Weak transcription	Fetal Intestine Large	intestine
42	chr2:128301800-128304800	Strong transcription	Fetal Intestine Small	intestine
43	chr2:128302600-128303600	Genic enhancers	Fetal Intestine Large	intestine
44	chr2:128303000-128303200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:128303000-128303600	Bivalent Enhancer	Placenta	Placenta
46	chr2:128303600-128305400	Strong transcription	Fetal Intestine Large	intestine
47	chr2:128304800-128305200	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr2:128304800-128307200	Weak transcription	Fetal Intestine Small	intestine
49	chr2:128305200-128318200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:128305400-128307000	Weak transcription	Fetal Intestine Large	intestine

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