Variant report

Variant	nsv538770
Chromosome Location	chr7:19151576-19159136
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	chr7:19155559-19156240	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr7:19152126-19152493	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr7:19157965-19157974	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr7:19156545-19156550	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr7:19156793-19156902	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr7:19158087-19158099	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr7:19157108-19157365	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTBP2	chr7:19155933-19159128	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTBP2	chr7:19151900-19152473	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr7:19156855-19156908	MCF-7	breast:	n/a	n/a
11	CTCF	chr7:19158040-19158190	SK-N-SH_RA	brain:	n/a	chr7:19158101-19158119 chr7:19158104-19158117
12	CTCF	chr7:19158940-19159090	AG04449	skin:	n/a	n/a
13	CTCF	chr7:19158000-19158150	AG09309	skin:	n/a	chr7:19158101-19158119 chr7:19158104-19158117
14	CTCF	chr7:19158020-19158170	BJ	skin:	n/a	chr7:19158101-19158119 chr7:19158104-19158117
15	CTCF	chr7:19158046-19158160	NHEK	skin:	n/a	chr7:19158101-19158119 chr7:19158104-19158117
16	CTCF	chr7:19158060-19158210	HFF-Myc	foreskin:	n/a	chr7:19158101-19158119 chr7:19158104-19158117
17	CTCF	chr7:19155987-19156193	Fibrobl	skin:	n/a	n/a
18	CTCF	chr7:19158060-19158210	WERI-Rb-1	eye:	n/a	chr7:19158101-19158119 chr7:19158104-19158117
19	CTCF	chr7:19158760-19158910	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr7:19157993-19158198	A549	lung:	n/a	chr7:19158101-19158119 chr7:19158104-19158117
21	CTCF	chr7:19158040-19158190	HCT-116	colon:	n/a	chr7:19158101-19158119 chr7:19158104-19158117
22	CTCF	chr7:19155520-19155670	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr7:19158020-19158170	NB4	blood:	n/a	chr7:19158101-19158119 chr7:19158104-19158117
24	CTCF	chr7:19158000-19158150	HCPEpiC	choroid plexus:	n/a	chr7:19158101-19158119 chr7:19158104-19158117
25	CTCF	chr7:19157520-19157670	SK-N-SH_RA	brain:	n/a	chr7:19157529-19157542
26	CTCF	chr7:19158038-19158197	MCF-7	breast:	n/a	chr7:19158101-19158119 chr7:19158104-19158117
27	CTCF	chr7:19156040-19156190	HAc	cerebellar:	n/a	n/a
28	CTCF	chr7:19158060-19158210	SK-N-SH_RA	brain:	n/a	chr7:19158101-19158119 chr7:19158104-19158117
29	CTCF	chr7:19156820-19156970	AoAF	blood vessel:	n/a	n/a
30	CTCF	chr7:19157980-19158130	HEEpiC	esophagus:	n/a	chr7:19158101-19158119 chr7:19158104-19158117
31	CTCF	chr7:19157500-19157650	HBMEC	blood vessel:	n/a	chr7:19157529-19157542
32	CTCF	chr7:19151900-19152050	BJ	skin:	n/a	n/a
33	CTCF	chr7:19158080-19158230	AG09309	skin:	n/a	chr7:19158101-19158119 chr7:19158104-19158117
34	CTCF	chr7:19157560-19157710	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr7:19157520-19157670	AG09319	gingival:	n/a	chr7:19157529-19157542
36	CTCF	chr7:19158040-19158190	AG04449	skin:	n/a	chr7:19158101-19158119 chr7:19158104-19158117
37	CTCF	chr7:19157900-19158050	NHLF	lung:	n/a	n/a
38	CTCF	chr7:19157940-19158090	BE2_C	brain:	n/a	n/a
39	CTCF	chr7:19156475-19156480	Fibrobl	skin:	n/a	n/a
40	CTCF	chr7:19158680-19158830	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr7:19158060-19158210	AG09319	gingival:	n/a	chr7:19158101-19158119 chr7:19158104-19158117
42	CTCF	chr7:19155560-19155710	HCPEpiC	choroid plexus:	n/a	n/a
43	CTCF	chr7:19158060-19158210	HCFaa	heart:	n/a	chr7:19158101-19158119 chr7:19158104-19158117
44	CTCF	chr7:19158000-19158150	BJ	skin:	n/a	chr7:19158101-19158119 chr7:19158104-19158117
45	CTCF	chr7:19158040-19158190	AG09319	gingival:	n/a	chr7:19158101-19158119 chr7:19158104-19158117
46	CTCF	chr7:19158020-19158170	HMF	breast:	n/a	chr7:19158101-19158119 chr7:19158104-19158117
47	CTCF	chr7:19157980-19158130	HCPEpiC	choroid plexus:	n/a	chr7:19158101-19158119 chr7:19158104-19158117
48	CTCF	chr7:19158691-19158823	Fibrobl	skin:	n/a	n/a
49	CTCF	chr7:19158040-19158190	HAc	cerebellar:	n/a	chr7:19158101-19158119 chr7:19158104-19158117
50	CTCF	chr7:19158740-19158890	SAEC	small airway:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:19158692-19158742	GM19239	blood:	n/a
2	chr7:19158954-19159004	PFSK-1	brain:	n/a
3	chr7:19157304-19157354	PrEC	prostate:	n/a
4	chr7:19158692-19158742	GM19239	blood:	n/a
5	chr7:19158954-19159004	PFSK-1	brain:	n/a
6	chr7:19157304-19157354	PrEC	prostate:	n/a
7	chr7:19157296-19157346	GM12878	blood:	n/a
8	chr7:19158001-19158051	PANC-1	pancreas:	n/a
9	chr7:19156086-19156136	HMEC	breast:	n/a
10	chr7:19154096-19154146	MCF10A-Er-Src	breast:	n/a
11	chr7:19152073-19152123	SKMC	muscle:	n/a
12	chr7:19157193-19157243	HCM	heart:	n/a
13	chr7:19158647-19158697	HIPEpiC	eye:	n/a
14	chr7:19157650-19157700	RPTEC	kidney:	n/a
15	chr7:19155785-19155835	AG09309	skin:	n/a
16	chr7:19158030-19158080	HRPEpiC	eye:	n/a
17	chr7:19157650-19157700	HCF	heart:	n/a
18	chr7:19158210-19158260	HEEpiC	esophagus:	n/a
19	chr7:19158721-19158771	CMK	blood:	n/a
20	chr7:19158666-19158716	GM12891	blood:	n/a
21	chr7:19155785-19155835	SK-N-SH	brain:	n/a
22	chr7:19158664-19158714	HCT-116	colon:	n/a
23	chr7:19157193-19157243	MCF10A-Er-Src	breast:	n/a
24	chr7:19158647-19158697	HRCEpiC	kidney:	n/a
25	chr7:19158954-19159004	HEEpiC	esophagus:	n/a
26	chr7:19157710-19157760	HCF	heart:	n/a
27	chr7:19156902-19156952	SK-N-SH	brain:	n/a
28	chr7:19158041-19158091	HAEpiC	amniotic membrane:	n/a
29	chr7:19157938-19157988	BE2_C	brain:	n/a
30	chr7:19157813-19157863	AG09309	skin:	n/a
31	chr7:19152017-19152067	AG04450	lung:	fetal
32	chr7:19154096-19154146	NT2-D1	testis:	n/a
33	chr7:19155785-19155835	AoSMC	blood vessel:	n/a
34	chr7:19158349-19158399	HNPCEpiC	eye:	n/a
35	chr7:19158954-19159004	K562	blood:	n/a
36	chr7:19158647-19158697	RPTEC	kidney:	n/a
37	chr7:19156550-19156600	HL-60	blood:	n/a
38	chr7:19158747-19158797	CMK	blood:	n/a
39	chr7:19158001-19158051	SK-N-SH_RA	brain:	n/a
40	chr7:19158001-19158051	SK-N-SH	brain:	n/a
41	chr7:19158210-19158260	IMR90	lung:	fetal
42	chr7:19156550-19156600	MCF10A-Er-Src	breast:	n/a
43	chr7:19157193-19157243	AG04450	lung:	fetal
44	chr7:19155806-19155856	AG09309	skin:	n/a
45	chr7:19157339-19157389	BJ	skin:	n/a
46	chr7:19158378-19158428	Hepatocyte	liver:	n/a
47	chr7:19158210-19158260	ovcar-3	ovarian:	n/a
48	chr7:19156086-19156136	HPAEpiC	pulmonary alveolar:	n/a
49	chr7:19156902-19156952	AoSMC	blood vessel:	n/a
50	chr7:19158123-19158173	HEEpiC	esophagus:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HDAC9-8	chr7:19154854-19155484	NONHSAT119380
2	lnc-HDAC9-9	chr7:19156130-19156172	NONHSAT119382
3	lnc-HDAC9-8	chr7:19155207-19155609	NONHSAT119381
4	lnc-HDAC9-2	chr7:19152378-19153894	ENSG00000232821.1
5	lnc-HDAC9-2	chr7:19152097-19152290	XLOC_006001
6	lnc-HDAC9-2	chr7:19152097-19152290	ENSG00000232821.1
7	lnc-HDAC9-2	chr7:19152378-19153891	XLOC_006001
8	lnc-HDAC9-9	chr7:19156379-19156637	NONHSAT119382

Variant related genes	Relation type
TWIST1	TF binding region
ENSG00000236536	TF binding region
ENSG00000232821	TF binding region
TWIST1	CpG island
ENSG00000236536	CpG island
ENSG00000232821	CpG island
NEDD4	miRNA target sites

Extended variants
information (count: 354 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58872166	chr7:19151695-19151696	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs116135341	chr7:19151718-19151719	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs550377542	chr7:19151744-19151745	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs376584190	chr7:19151749-19151750	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs557262490	chr7:19151750-19151751	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs76914635	chr7:19151751-19151752	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs78382551	chr7:19151752-19151753	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs568937770	chr7:19151755-19151756	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs76245119	chr7:19151765-19151766	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs76811992	chr7:19151767-19151768	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs144489797	chr7:19151780-19151781	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs557774271	chr7:19151807-19151808	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs540293377	chr7:19151819-19151820	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs72449539	chr7:19151890-19151891	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs559894808	chr7:19151910-19151911	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs566768976	chr7:19151914-19151915	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs189833753	chr7:19151934-19151935	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs147851709	chr7:19151957-19151958	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs114656916	chr7:19151988-19151989	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs544415726	chr7:19152001-19152002	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs117182916	chr7:19152026-19152027	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs574656353	chr7:19152077-19152078	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs575735854	chr7:19152081-19152082	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs181430902	chr7:19152092-19152093	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs376452708	chr7:19152110-19152111	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs562873267	chr7:19152135-19152136	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs539467217	chr7:19152141-19152142	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs2857568	chr7:19152159-19152160	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs111364784	chr7:19152161-19152162	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs564535719	chr7:19152162-19152163	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs528747917	chr7:19152163-19152164	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs372047747	chr7:19152198-19152199	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs562066425	chr7:19152200-19152201	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs369198318	chr7:19152219-19152220	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs531870850	chr7:19152246-19152247	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs2857569	chr7:19152255-19152256	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs548391043	chr7:19152268-19152269	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs562282780	chr7:19152279-19152280	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs2857570	chr7:19152295-19152296	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568849102	chr7:19152351-19152352	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189180089	chr7:19152411-19152412	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs551067529	chr7:19152418-19152419	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs182272144	chr7:19152426-19152427	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs533782493	chr7:19152486-19152487	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs78803252	chr7:19152516-19152517	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs2522195	chr7:19152543-19152544	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs141293799	chr7:19152566-19152567	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs150361481	chr7:19152586-19152587	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs138213434	chr7:19152598-19152599	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs575631005	chr7:19152613-19152614	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:605 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19148200-19151600	Weak transcription	HSMM	muscle
2	chr7:19148200-19154800	Weak transcription	HSMMtube	muscle
3	chr7:19148400-19152000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:19148400-19155600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:19148600-19152600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:19149000-19151800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
7	chr7:19149000-19152000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr7:19149000-19152200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:19150000-19152000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
10	chr7:19150000-19152000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:19150800-19152200	Active TSS	NHDF-Ad	bronchial
12	chr7:19150800-19153200	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr7:19150800-19157200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:19151000-19151600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:19151000-19152000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
16	chr7:19151200-19151600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
17	chr7:19151200-19151800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:19151200-19153000	Flanking Active TSS	Osteobl	bone
19	chr7:19151400-19151600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
20	chr7:19151400-19151600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
21	chr7:19151400-19151600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
22	chr7:19151400-19151600	Enhancers	Aorta	Aorta
23	chr7:19151400-19151800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:19151400-19151800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:19151400-19151800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:19151400-19151800	Bivalent Enhancer	NH-A	brain
27	chr7:19151400-19155200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:19151600-19151800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
29	chr7:19151600-19152000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
30	chr7:19151600-19152400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
31	chr7:19151600-19152600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
32	chr7:19151600-19152600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:19151600-19152600	Active TSS	Aorta	Aorta
34	chr7:19151600-19152800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr7:19151600-19153400	Strong transcription	HSMM	muscle
36	chr7:19151800-19152000	Bivalent Enhancer	Primary B cells from cord blood	blood
37	chr7:19151800-19152000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:19151800-19152200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
39	chr7:19151800-19152200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:19151800-19152200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
41	chr7:19151800-19152200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
42	chr7:19151800-19152200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
43	chr7:19151800-19152200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:19151800-19152200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
45	chr7:19151800-19152200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
46	chr7:19151800-19152200	Enhancers	NH-A	brain
47	chr7:19151800-19152200	Enhancers	NHLF	lung
48	chr7:19151800-19152600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:19151800-19152800	Active TSS	Right Atrium	heart
50	chr7:19151800-19153000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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