Variant report

Variant	esv3338179
Chromosome Location	chr1:226923854-226926702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:416)
CpG islands
(count:671)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:416 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr1:226926576-226927322	GM12878	blood:	n/a	n/a
2	BACH1	chr1:226925638-226925848	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr1:226926134-226926363	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCLAF1	chr1:226924640-226925872	GM12878	blood:	n/a	chr1:226925171-226925184 chr1:226925178-226925191 chr1:226925203-226925212 chr1:226925299-226925312 chr1:226925180-226925189 chr1:226925183-226925192 chr1:226925184-226925197 chr1:226925254-226925267
5	BCLAF1	chr1:226926020-226926544	GM12878	blood:	n/a	chr1:226926496-226926509
6	BCLAF1	chr1:226925574-226926496	GM12878	blood:	n/a	chr1:226925894-226925907 chr1:226925999-226926012
7	BHLHE40	chr1:226926090-226926352	GM12878	blood:	n/a	n/a
8	BRCA1	chr1:226924917-226924978	GM12878	blood:	n/a	n/a
9	CHD1	chr1:226925707-226927587	GM12878	blood:	n/a	n/a
10	CHD1	chr1:226924911-226925419	GM12878	blood:	n/a	n/a
11	CHD2	chr1:226926149-226926615	GM12878	blood:	n/a	n/a
12	CHD2	chr1:226925377-226925896	GM12878	blood:	n/a	chr1:226925578-226925588
13	CREB1	chr1:226926262-226926577	A549	lung:	n/a	n/a
14	CTBP2	chr1:226923487-226926606	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr1:226925000-226925150	HBMEC	blood vessel:	n/a	n/a
16	CTCF	chr1:226926660-226926810	HEEpiC	esophagus:	n/a	chr1:226926740-226926748
17	CTCF	chr1:226924999-226925151	GM10266	blood:	n/a	n/a
18	CTCF	chr1:226926300-226926450	GM12868	blood:	n/a	n/a
19	CTCF	chr1:226926290-226926412	MCF-7	breast:	n/a	n/a
20	CTCF	chr1:226925020-226925170	GM12866	blood:	n/a	n/a
21	CTCF	chr1:226926310-226926420	MCF-7	breast:	n/a	n/a
22	CTCF	chr1:226924860-226925010	GM12869	blood:	n/a	n/a
23	CTCF	chr1:226926247-226926430	GM19239	blood:	n/a	n/a
24	CTCF	chr1:226926280-226926430	GM12871	blood:	n/a	n/a
25	CTCF	chr1:226926242-226926450	GM12891	blood:	n/a	n/a
26	CTCF	chr1:226926151-226926185	ProgFib	skin:	n/a	n/a
27	CTCF	chr1:226926400-226926550	HVMF	connective:	n/a	n/a
28	CTCF	chr1:226924600-226924750	GM12864	blood:	n/a	n/a
29	CTCF	chr1:226926280-226926430	HRE	kidney:	n/a	n/a
30	CTCF	chr1:226925020-226925170	HCFaa	heart:	n/a	n/a
31	CTCF	chr1:226926260-226926410	HCPEpiC	choroid plexus:	n/a	n/a
32	CTCF	chr1:226925808-226926010	GM19238	blood:	n/a	n/a
33	CTCF	chr1:226926280-226926430	GM12866	blood:	n/a	n/a
34	CTCF	chr1:226926280-226926430	RPTEC	kidney:	n/a	n/a
35	CTCF	chr1:226925017-226925158	GM10248	blood:	n/a	n/a
36	CTCF	chr1:226925902-226926001	GM10266	blood:	n/a	n/a
37	CTCF	chr1:226925901-226925964	LNCaP	prostate:	n/a	n/a
38	CTCF	chr1:226925840-226925990	GM12865	blood:	n/a	n/a
39	CTCF	chr1:226924980-226925130	GM12864	blood:	n/a	n/a
40	CTCF	chr1:226925880-226926030	GM06990	blood:	n/a	n/a
41	CTCF	chr1:226925040-226925190	BJ	skin:	n/a	n/a
42	CTCF	chr1:226926340-226926490	HMEC	breast:	n/a	n/a
43	CTCF	chr1:226924960-226925110	GM12875	blood:	n/a	n/a
44	CTCF	chr1:226926225-226926477	GM19238	blood:	n/a	n/a
45	CTCF	chr1:226926256-226926450	GM10266	blood:	n/a	n/a
46	CTCF	chr1:226924040-226924190	GM12878	blood:	n/a	n/a
47	CTCF	chr1:226926160-226926310	SAEC	small airway:	n/a	n/a
48	CTCF	chr1:226925013-226925153	GM19238	blood:	n/a	n/a
49	CTCF	chr1:226926276-226926427	Fibrobl	skin:	n/a	n/a
50	CTCF	chr1:226924260-226924410	HAc	cerebellar:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:226924311-226924361	HMEC	breast:	n/a
2	chr1:226924311-226924361	RPTEC	kidney:	n/a
3	chr1:226925704-226925754	PFSK-1	brain:	n/a
4	chr1:226924311-226924361	GM12878	blood:	n/a
5	chr1:226926318-226926368	AG04449	skin:	fetal
6	chr1:226925172-226925222	BJ	skin:	n/a
7	chr1:226925751-226925801	AG04449	skin:	fetal
8	chr1:226924739-226924789	CMK	blood:	n/a
9	chr1:226925751-226925801	ovcar-3	ovarian:	n/a
10	chr1:226925172-226925222	NH-A	brain:	n/a
11	chr1:226924257-226924307	ovcar-3	ovarian:	n/a
12	chr1:226924311-226924361	SK-N-MC	brain:	n/a
13	chr1:226925181-226925231	NB4	blood:	n/a
14	chr1:226925702-226925752	AG09319	gingival:	n/a
15	chr1:226925704-226925754	AoSMC	blood vessel:	n/a
16	chr1:226925704-226925754	Hepatocyte	liver:	n/a
17	chr1:226925181-226925231	GM06990	blood:	n/a
18	chr1:226925702-226925752	HMEC	breast:	n/a
19	chr1:226926318-226926368	HCM	heart:	n/a
20	chr1:226926318-226926368	LNCaP	prostate:	n/a
21	chr1:226925704-226925754	AG04450	lung:	fetal
22	chr1:226925702-226925752	HRPEpiC	eye:	n/a
23	chr1:226925702-226925752	RPTEC	kidney:	n/a
24	chr1:226924311-226924361	SK-N-SH	brain:	n/a
25	chr1:226925704-226925754	HNPCEpiC	eye:	n/a
26	chr1:226924846-226924896	AoSMC	blood vessel:	n/a
27	chr1:226925181-226925231	AG10803	skin:	n/a
28	chr1:226925751-226925801	T-47D	breast:	n/a
29	chr1:226925082-226925132	AG09319	gingival:	n/a
30	chr1:226925082-226925132	GM06990	blood:	n/a
31	chr1:226925082-226925132	SK-N-SH_RA	brain:	n/a
32	chr1:226925181-226925231	NT2-D1	testis:	n/a
33	chr1:226926318-226926368	HPAEpiC	pulmonary alveolar:	n/a
34	chr1:226925172-226925222	PrEC	prostate:	n/a
35	chr1:226924739-226924789	U87	brain:	n/a
36	chr1:226924739-226924789	HMEC	breast:	n/a
37	chr1:226924257-226924307	ProgFib	skin:	n/a
38	chr1:226925181-226925231	HCF	heart:	n/a
39	chr1:226925704-226925754	BE2_C	brain:	n/a
40	chr1:226924739-226924789	HAEpiC	amniotic membrane:	n/a
41	chr1:226925702-226925752	BJ	skin:	n/a
42	chr1:226926318-226926368	HCPEpiC	choroid plexus:	n/a
43	chr1:226925702-226925752	Hela-S3	cervix:	n/a
44	chr1:226926318-226926368	HEEpiC	esophagus:	n/a
45	chr1:226925181-226925231	IMR90	lung:	fetal
46	chr1:226925172-226925222	HL-60	blood:	n/a
47	chr1:226924846-226924896	GM12878	blood:	n/a
48	chr1:226924846-226924896	AG04450	lung:	fetal
49	chr1:226925751-226925801	MCF-7	breast:	n/a
50	chr1:226925082-226925132	HRPEpiC	eye:	n/a

No data

Variant related genes	Relation type
ITPKB	TF binding region
ITPKB	CpG island

Extended variants
information (count: 168 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:168 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550313561	chr1:226923861-226923862	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs374372124	chr1:226923871-226923872	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs201162163	chr1:226923887-226923888	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs202027962	chr1:226923889-226923890	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs530318369	chr1:226923899-226923900	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs200399460	chr1:226923911-226923912	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs368522487	chr1:226923923-226923924	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs200121771	chr1:226923930-226923931	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs6667260	chr1:226923938-226923939	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs371559058	chr1:226923943-226923944	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs374593738	chr1:226923962-226923963	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs150169246	chr1:226923982-226923983	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs569859868	chr1:226923989-226923990	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs199687729	chr1:226924004-226924005	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs201649438	chr1:226924009-226924010	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs553053957	chr1:226924012-226924013	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs371621818	chr1:226924044-226924045	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs368127761	chr1:226924059-226924060	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs558038469	chr1:226924064-226924065	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs187169541	chr1:226924065-226924066	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs368044845	chr1:226924070-226924071	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs371265531	chr1:226924075-226924076	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs535284459	chr1:226924088-226924089	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs375907358	chr1:226924092-226924093	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs111744667	chr1:226924128-226924129	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs199795545	chr1:226924133-226924134	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs3754413	chr1:226924196-226924197	Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs35957083	chr1:226924201-226924202	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs142505897	chr1:226924210-226924211	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs12097311	chr1:226924241-226924242	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs139236399	chr1:226924271-226924272	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs372229059	chr1:226924275-226924276	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs145342884	chr1:226924279-226924280	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs140811669	chr1:226924280-226924281	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs201331239	chr1:226924283-226924284	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs540281009	chr1:226924289-226924290	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs145808681	chr1:226924291-226924292	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs368372143	chr1:226924336-226924337	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs144978072	chr1:226924351-226924352	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs143170772	chr1:226924363-226924364	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs72754588	chr1:226924382-226924383	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs548833775	chr1:226924389-226924390	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs113737408	chr1:226924401-226924402	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs372727679	chr1:226924404-226924405	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs563985567	chr1:226924405-226924406	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs145241067	chr1:226924411-226924412	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs371043507	chr1:226924461-226924462	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs374589417	chr1:226924476-226924477	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs199585718	chr1:226924510-226924511	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs372824138	chr1:226924521-226924522	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226891800-226924800	Weak transcription	Aorta	Aorta
2	chr1:226909800-226924200	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr1:226910000-226925000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
4	chr1:226912400-226924600	Weak transcription	Ovary	ovary
5	chr1:226912800-226925400	Weak transcription	Stomach Mucosa	stomach
6	chr1:226915000-226925000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
7	chr1:226916800-226924200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:226918600-226925000	Transcr. at gene 5' and 3'	Thymus	Thymus
9	chr1:226918800-226925000	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
10	chr1:226918800-226925800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:226919200-226924400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:226919400-226924000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:226920000-226925200	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:226920200-226924000	Genic enhancers	Primary hematopoietic stem cells	blood
15	chr1:226920400-226924200	Transcr. at gene 5' and 3'	Dnd41	blood
16	chr1:226920400-226924400	Genic enhancers	Spleen	Spleen
17	chr1:226920400-226924600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:226920400-226924600	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:226920400-226924600	Genic enhancers	Fetal Lung	lung
20	chr1:226920400-226924800	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
21	chr1:226920400-226924800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
22	chr1:226920400-226925000	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
23	chr1:226920400-226927000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
24	chr1:226920600-226924400	Genic enhancers	Primary monocytes fromperipheralblood	blood
25	chr1:226920600-226924600	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
26	chr1:226920600-226924800	Strong transcription	NHEK	skin
27	chr1:226920600-226925000	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:226920600-226925000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:226920600-226925000	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
30	chr1:226920800-226927200	Active TSS	Psoas Muscle	Psoas
31	chr1:226921000-226924000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr1:226921000-226924800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:226921000-226927600	Active TSS	Right Atrium	heart
34	chr1:226921200-226924800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:226921600-226924600	Transcr. at gene 5' and 3'	Brain Substantia Nigra	brain
36	chr1:226921600-226924600	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
37	chr1:226921800-226924400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:226921800-226924400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
39	chr1:226921800-226924600	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
40	chr1:226922000-226924200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
41	chr1:226922000-226924800	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
42	chr1:226922200-226924200	Genic enhancers	NHLF	lung
43	chr1:226922200-226925000	Transcr. at gene 5' and 3'	Primary T killer naive cells fromperipheralblood	blood
44	chr1:226922400-226924800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr1:226922400-226925000	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
46	chr1:226922400-226925000	Enhancers	Liver	Liver
47	chr1:226922600-226924400	Flanking Active TSS	Brain Angular Gyrus	brain
48	chr1:226922600-226924600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:226922600-226924600	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
50	chr1:226922600-226924600	Weak transcription	HMEC	breast

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