Variant report

Variant	esv3476765
Chromosome Location	chr7:129141108-129143242
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr7:129142188-129143084	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr7:129141713-129141930	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr7:129142242-129142487	K562	blood:	n/a	n/a
4	BHLHE40	chr7:129142218-129142574	GM12878	blood:	n/a	n/a
5	CCNT2	chr7:129142199-129142584	K562	blood:	n/a	n/a
6	CEBPB	chr7:129142732-129142921	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr7:129142284-129142435	GM12878	blood:	n/a	n/a
8	CHD2	chr7:129142160-129142333	Hela-S3	cervix:	n/a	n/a
9	CREB1	chr7:129142166-129142581	A549	lung:	n/a	n/a
10	CTCF	chr7:129142800-129142950	RPTEC	kidney:	n/a	chr7:129142826-129142839 chr7:129142829-129142842
11	CTCF	chr7:129143138-129143186	ProgFib	skin:	n/a	n/a
12	CTCF	chr7:129142600-129142750	AG04450	lung:	n/a	n/a
13	CTCF	chr7:129142720-129142870	HRPEpiC	eye:	n/a	chr7:129142826-129142839 chr7:129142829-129142842
14	CTCF	chr7:129142320-129142470	AG04449	skin:	n/a	n/a
15	CTCF	chr7:129141616-129141721	A549	lung:	n/a	n/a
16	CTCF	chr7:129142762-129142902	GM19240	blood:	n/a	chr7:129142826-129142839 chr7:129142829-129142842
17	CTCF	chr7:129142752-129142911	GM19238	blood:	n/a	chr7:129142826-129142839 chr7:129142829-129142842
18	CTCF	chr7:129142720-129142870	GM12874	blood:	n/a	chr7:129142826-129142839 chr7:129142829-129142842
19	CTCF	chr7:129142820-129142970	GM12878	blood:	n/a	chr7:129142826-129142839 chr7:129142829-129142842
20	CTCF	chr7:129142770-129142855	GM12878	blood:	n/a	chr7:129142826-129142839 chr7:129142829-129142842
21	CTCF	chr7:129142766-129142928	ProgFib	skin:	n/a	chr7:129142826-129142839 chr7:129142829-129142842
22	CTCF	chr7:129142760-129142910	AG09319	gingival:	n/a	chr7:129142826-129142839 chr7:129142829-129142842
23	CTCF	chr7:129142820-129142970	GM12869	blood:	n/a	chr7:129142826-129142839 chr7:129142829-129142842
24	CTCF	chr7:129141700-129141850	HAc	cerebellar:	n/a	chr7:129141787-129141795
25	CTCF	chr7:129142720-129142870	GM12870	blood:	n/a	chr7:129142826-129142839 chr7:129142829-129142842
26	CTCF	chr7:129141660-129141810	K562	blood:	n/a	chr7:129141787-129141795
27	CTCF	chr7:129142800-129142950	GM12878	blood:	n/a	chr7:129142826-129142839 chr7:129142829-129142842
28	CTCF	chr7:129141656-129141669	MCF-7	breast:	n/a	n/a
29	CTCF	chr7:129141580-129141730	Caco-2	colon:	n/a	n/a
30	CTCF	chr7:129142700-129142850	K562	blood:	n/a	chr7:129142826-129142839 chr7:129142829-129142842
31	CTCF	chr7:129141637-129141698	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr7:129142720-129142870	HMF	breast:	n/a	chr7:129142826-129142839 chr7:129142829-129142842
33	CTCF	chr7:129141671-129141693	MCF-7	breast:	n/a	n/a
34	CTCF	chr7:129142780-129142930	AG04449	skin:	n/a	chr7:129142826-129142839 chr7:129142829-129142842
35	CTCF	chr7:129142800-129142950	GM12874	blood:	n/a	chr7:129142826-129142839 chr7:129142829-129142842
36	CTCF	chr7:129142758-129142925	LNCaP	prostate:	n/a	chr7:129142826-129142839 chr7:129142829-129142842
37	CTCF	chr7:129142720-129142870	HRE	kidney:	n/a	chr7:129142826-129142839 chr7:129142829-129142842
38	CTCF	chr7:129141640-129141790	Caco-2	colon:	n/a	n/a
39	CTCF	chr7:129141652-129141701	HepG2	liver:	n/a	n/a
40	CTCF	chr7:129142720-129142870	HA-sp	spinal cord:	n/a	chr7:129142826-129142839 chr7:129142829-129142842
41	CTCF	chr7:129141620-129141770	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr7:129142760-129142910	AoAF	blood vessel:	n/a	chr7:129142826-129142839 chr7:129142829-129142842
43	CTCF	chr7:129142740-129142890	NB4	blood:	n/a	chr7:129142826-129142839 chr7:129142829-129142842
44	CTCF	chr7:129141619-129141712	MCF-7	breast:	n/a	n/a
45	CTCF	chr7:129142780-129142965	GM12878	blood:	n/a	chr7:129142826-129142839 chr7:129142829-129142842
46	CTCF	chr7:129141600-129141750	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr7:129141617-129141731	LNCaP	prostate:	n/a	n/a
48	CTCF	chr7:129142740-129142890	HAc	cerebellar:	n/a	chr7:129142826-129142839 chr7:129142829-129142842
49	CTCF	chr7:129142700-129142850	GM12866	blood:	n/a	chr7:129142826-129142839 chr7:129142829-129142842
50	CTCF	chr7:129142780-129142930	HPF	lung:	n/a	chr7:129142826-129142839 chr7:129142829-129142842

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:129143037-129143087	PrEC	prostate:	n/a
2	chr7:129142651-129142701	HCT-116	colon:	n/a
3	chr7:129142284-129142334	HCF	heart:	n/a
4	chr7:129142624-129142674	PFSK-1	brain:	n/a
5	chr7:129142651-129142701	LNCaP	prostate:	n/a
6	chr7:129142284-129142334	K562	blood:	n/a
7	chr7:129143037-129143087	U87	brain:	n/a
8	chr7:129142284-129142334	PFSK-1	brain:	n/a
9	chr7:129142624-129142674	BJ	skin:	n/a
10	chr7:129143037-129143087	GM12891	blood:	n/a
11	chr7:129142624-129142674	Jurkat	blood:	n/a
12	chr7:129143037-129143087	MCF10A-Er-Src	breast:	n/a
13	chr7:129142624-129142674	AG09309	skin:	n/a
14	chr7:129142284-129142334	HCM	heart:	n/a
15	chr7:129143037-129143087	ECC-1	luminal epithelium:	n/a
16	chr7:129143037-129143087	HMEC	breast:	n/a
17	chr7:129142624-129142674	SK-N-SH_RA	brain:	n/a
18	chr7:129143037-129143087	HCF	heart:	n/a
19	chr7:129142624-129142674	Hepatocyte	liver:	n/a
20	chr7:129142624-129142674	HCM	heart:	n/a
21	chr7:129142651-129142701	NHDF-neo	bronchial:	n/a
22	chr7:129142624-129142674	MCF10A-Er-Src	breast:	n/a
23	chr7:129142284-129142334	GM12891	blood:	n/a
24	chr7:129142624-129142674	H1-hESC	embryonic stem cell:	embryo
25	chr7:129142624-129142674	BE2_C	brain:	n/a
26	chr7:129142284-129142334	Hela-S3	cervix:	n/a
27	chr7:129142624-129142674	NHBE	bronchial:	n/a
28	chr7:129143037-129143087	HL-60	blood:	n/a
29	chr7:129142651-129142701	SKMC	muscle:	n/a
30	chr7:129143037-129143087	H1-hESC	embryonic stem cell:	embryo
31	chr7:129142651-129142701	HEK293	kidney:	embryo
32	chr7:129142624-129142674	HRE	kidney:	n/a
33	chr7:129142624-129142674	ECC-1	luminal epithelium:	n/a
34	chr7:129142651-129142701	HL-60	blood:	n/a
35	chr7:129142624-129142674	GM19239	blood:	n/a
36	chr7:129142624-129142674	HPAEpiC	pulmonary alveolar:	n/a
37	chr7:129142624-129142674	AG04450	lung:	fetal
38	chr7:129142651-129142701	HRPEpiC	eye:	n/a
39	chr7:129143037-129143087	AG04449	skin:	fetal
40	chr7:129142651-129142701	CMK	blood:	n/a
41	chr7:129142624-129142674	CMK	blood:	n/a
42	chr7:129143037-129143087	NH-A	brain:	n/a
43	chr7:129142624-129142674	HUVEC	blood vessel:	n/a
44	chr7:129142651-129142701	GM12891	blood:	n/a
45	chr7:129142624-129142674	Caco-2	colon:	n/a
46	chr7:129142284-129142334	HIPEpiC	eye:	n/a
47	chr7:129142284-129142334	SK-N-MC	brain:	n/a
48	chr7:129142651-129142701	AG04449	skin:	fetal
49	chr7:129142651-129142701	GM12878	blood:	n/a
50	chr7:129142624-129142674	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:129142735..129144736-chr7:129243609..129245473,3	K562	blood:
2	chr7:129139279..129144298-chr7:129248057..129253593,12	MCF-7	breast:
3	chr7:129141127..129144491-chr7:129250183..129252967,6	MCF-7	breast:
4	chr7:128862636..128865560-chr7:129140029..129143022,2	K562	blood:
5	chr7:129143239..129144913-chr7:129153487..129155752,3	MCF-7	breast:
6	chr7:129138671..129141978-chr7:129250078..129253028,4	K562	blood:
7	chr7:129142939..129144496-chr7:129249882..129252003,2	K562	blood:
8	chr1:108505293..108507880-chr7:129142330..129144736,2	MCF-7	breast:
9	chr7:129139139..129142160-chr7:129272114..129275915,3	MCF-7	breast:
10	chr20:52793289..52795473-chr7:129142646..129144737,2	MCF-7	breast:

Variant related genes	Relation type
SMKR1	TF binding region
SMKR1	CpG island
ENSG00000273329	chromatin interactions
ENSG00000134215	chromatin interactions
ENSG00000158467	chromatin interactions
ENSG00000230489	chromatin interactions
ENSG00000106459	chromatin interactions

Extended variants
information (count: 62 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191059208	chr7:129141178-129141179	Bivalent Enhancer Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs536428999	chr7:129141193-129141194	Bivalent Enhancer Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs559899516	chr7:129141202-129141203	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs182077531	chr7:129141295-129141296	Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs550043408	chr7:129141315-129141316	Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs576249167	chr7:129141345-129141346	Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs544287489	chr7:129141380-129141381	Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs562852603	chr7:129141388-129141389	Active TSS Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs571345530	chr7:129141501-129141502	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs528464793	chr7:129141504-129141505	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs577609934	chr7:129141531-129141532	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs186671447	chr7:129141576-129141577	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs577120722	chr7:129141605-129141606	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs192852886	chr7:129141663-129141664	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs527911030	chr7:129141671-129141672	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs567123468	chr7:129141719-129141720	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs34691338	chr7:129141720-129141721	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs397764939	chr7:129141733-129141734	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs1248453	chr7:129141741-129141742	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs541185464	chr7:129141789-129141790	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs561439673	chr7:129141841-129141842	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs71527908	chr7:129141856-129141857	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs183059665	chr7:129141872-129141873	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs571303431	chr7:129141889-129141890	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs545388499	chr7:129141937-129141938	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs538620617	chr7:129142009-129142010	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs527986618	chr7:129142081-129142082	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs547541021	chr7:129142183-129142184	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs565750376	chr7:129142228-129142229	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs536073547	chr7:129142232-129142233	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs554707920	chr7:129142245-129142246	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs576260584	chr7:129142264-129142265	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs537396367	chr7:129142281-129142282	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs558566678	chr7:129142282-129142283	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs1261979	chr7:129142295-129142296	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs544980128	chr7:129142386-129142387	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs560235756	chr7:129142438-129142439	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs572175476	chr7:129142445-129142446	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs542863600	chr7:129142482-129142483	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs531225822	chr7:129142506-129142507	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs71581705	chr7:129142530-129142531	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs561488606	chr7:129142599-129142600	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs531810875	chr7:129142614-129142615	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs553394650	chr7:129142692-129142693	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs691332	chr7:129142694-129142695	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs565554334	chr7:129142709-129142710	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs373932000	chr7:129142724-129142725	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs547380371	chr7:129142760-129142761	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs376043585	chr7:129142762-129142763	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs565789424	chr7:129142765-129142766	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:426 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129103000-129141200	Weak transcription	Hela-S3	cervix
2	chr7:129104200-129141600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:129122000-129141800	Weak transcription	Right Ventricle	heart
4	chr7:129129400-129141800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:129133600-129141600	Weak transcription	Primary T cells from cord blood	blood
6	chr7:129134000-129141600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:129134400-129141400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:129136200-129141400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:129136200-129141600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr7:129137400-129141800	Weak transcription	Right Atrium	heart
11	chr7:129137400-129141800	Weak transcription	Spleen	Spleen
12	chr7:129137800-129141600	Weak transcription	Placenta	Placenta
13	chr7:129139600-129141600	Enhancers	Primary B cells from peripheral blood	blood
14	chr7:129139600-129141800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:129139800-129141600	Enhancers	GM12878-XiMat	blood
16	chr7:129140000-129141600	Enhancers	Fetal Brain Female	brain
17	chr7:129140800-129141400	Enhancers	Fetal Stomach	stomach
18	chr7:129141000-129141200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:129141000-129141600	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr7:129141000-129142200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:129141200-129141400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:129141200-129141400	Enhancers	Dnd41	blood
23	chr7:129141200-129141400	Enhancers	Hela-S3	cervix
24	chr7:129141200-129141600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:129141200-129141600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr7:129141200-129141600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr7:129141200-129141600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr7:129141200-129141600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:129141200-129141600	Enhancers	A549	lung
30	chr7:129141200-129141800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr7:129141200-129143000	Active TSS	Brain Anterior Caudate	brain
32	chr7:129141400-129141600	Enhancers	Primary B cells from cord blood	blood
33	chr7:129141400-129141600	Enhancers	Primary T cells fromperipheralblood	blood
34	chr7:129141400-129141600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr7:129141400-129141600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:129141400-129141600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr7:129141400-129141600	Bivalent Enhancer	HepG2	liver
38	chr7:129141400-129141800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:129141400-129141800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr7:129141400-129142000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:129141400-129142800	Flanking Active TSS	Dnd41	blood
42	chr7:129141400-129143000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:129141400-129143200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
44	chr7:129141400-129143200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr7:129141400-129143200	Active TSS	Hela-S3	cervix
46	chr7:129141400-129143400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
47	chr7:129141600-129141800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
48	chr7:129141600-129141800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:129141600-129141800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:129141600-129141800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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