Variant report

Variant	esv3419661
Chromosome Location	chr2:96803250-96805798
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	ATF2	chr2:96804363-96805090	GM12878	blood:	n/a	n/a
2	ATF2	chr2:96804388-96804885	GM12878	blood:	n/a	n/a
3	ATF2	chr2:96803869-96804139	GM12878	blood:	n/a	n/a
4	BCL11A	chr2:96804373-96804759	GM12878	blood:	n/a	n/a
5	BCL11A	chr2:96804455-96804744	GM12878	blood:	n/a	n/a
6	BCL11A	chr2:96803885-96804154	GM12878	blood:	n/a	n/a
7	BCL3	chr2:96804311-96804855	GM12878	blood:	n/a	n/a
8	BCL3	chr2:96804310-96804617	GM12878	blood:	n/a	n/a
9	BCLAF1	chr2:96804376-96804871	GM12878	blood:	n/a	n/a
10	BCLAF1	chr2:96804324-96805057	GM12878	blood:	n/a	n/a
11	BCLAF1	chr2:96803310-96803823	GM12878	blood:	n/a	n/a
12	BHLHE40	chr2:96804465-96805252	GM12878	blood:	n/a	n/a
13	BRCA1	chr2:96804541-96804632	HepG2	liver:	n/a	n/a
14	BRCA1	chr2:96804238-96804771	GM12878	blood:	n/a	n/a
15	CEBPB	chr2:96804118-96804168	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr2:96804464-96805079	GM12878	blood:	n/a	chr2:96805006-96805019
17	CHD1	chr2:96804539-96805254	GM12878	blood:	n/a	n/a
18	CHD2	chr2:96804452-96804734	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr2:96804049-96805255	GM12878	blood:	n/a	n/a
20	CTCF	chr2:96804520-96804670	NHEK	skin:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
21	CTCF	chr2:96804502-96804723	HepG2	liver:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
22	CTCF	chr2:96804453-96804716	H1-hESC	embryonic stem cell:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
23	CTCF	chr2:96804520-96804670	GM12875	blood:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
24	CTCF	chr2:96804477-96804733	Medullo	brain:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
25	CTCF	chr2:96804440-96804719	MCF-7	breast:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
26	CTCF	chr2:96804540-96804690	AoAF	blood vessel:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
27	CTCF	chr2:96804560-96804710	GM12874	blood:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
28	CTCF	chr2:96804500-96804650	HFF-Myc	foreskin:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
29	CTCF	chr2:96804540-96804690	K562	blood:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
30	CTCF	chr2:96804540-96804690	GM12878	blood:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
31	CTCF	chr2:96804520-96804670	SAEC	small airway:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
32	CTCF	chr2:96804520-96804670	HRPEpiC	eye:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
33	CTCF	chr2:96804478-96804695	GM10248	blood:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
34	CTCF	chr2:96804520-96804670	GM12867	blood:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
35	CTCF	chr2:96804560-96804710	GM12869	blood:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
36	CTCF	chr2:96805160-96805310	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr2:96804474-96804679	LNCaP	prostate:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
38	CTCF	chr2:96804540-96804690	HEK293	kidney:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
39	CTCF	chr2:96804160-96804310	K562	blood:	n/a	n/a
40	CTCF	chr2:96804393-96804936	SK-N-SH	brain:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
41	CTCF	chr2:96804520-96804670	AoAF	blood vessel:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
42	CTCF	chr2:96804540-96804690	GM12868	blood:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
43	CTCF	chr2:96804520-96804670	NHLF	lung:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
44	CTCF	chr2:96804540-96804690	HRE	kidney:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
45	CTCF	chr2:96804540-96804690	AG09309	skin:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
46	CTCF	chr2:96804540-96804690	RPTEC	kidney:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
47	CTCF	chr2:96804460-96804610	AG09309	skin:	n/a	chr2:96804599-96804608 chr2:96804596-96804609
48	CTCF	chr2:96804376-96804810	H1-hESC	embryonic stem cell:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
49	CTCF	chr2:96804520-96804670	AG04449	skin:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612
50	CTCF	chr2:96804500-96804650	NB4	blood:	n/a	chr2:96804596-96804614 chr2:96804598-96804619 chr2:96804599-96804608 chr2:96804596-96804609 chr2:96804599-96804612

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:96804750-96804800	MCF10A-Er-Src	breast:	n/a
2	chr2:96804750-96804800	HAEpiC	amniotic membrane:	n/a
3	chr2:96805411-96805461	AG09309	skin:	n/a
4	chr2:96804750-96804800	Caco-2	colon:	n/a
5	chr2:96804757-96804807	SK-N-MC	brain:	n/a
6	chr2:96804750-96804800	NHBE	bronchial:	n/a
7	chr2:96804247-96804297	SAEC	small airway:	n/a
8	chr2:96805411-96805461	HCM	heart:	n/a
9	chr2:96804750-96804800	H1-hESC	embryonic stem cell:	embryo
10	chr2:96804757-96804807	HepG2	liver:	n/a
11	chr2:96804750-96804800	HUVEC	blood vessel:	n/a
12	chr2:96804750-96804800	LNCaP	prostate:	n/a
13	chr2:96805411-96805461	HepG2	liver:	n/a
14	chr2:96804750-96804800	Jurkat	blood:	n/a
15	chr2:96805411-96805461	NB4	blood:	n/a
16	chr2:96804247-96804297	ECC-1	luminal epithelium:	n/a
17	chr2:96805411-96805461	Hela-S3	cervix:	n/a
18	chr2:96804247-96804297	HRPEpiC	eye:	n/a
19	chr2:96805411-96805461	BE2_C	brain:	n/a
20	chr2:96805411-96805461	HCT-116	colon:	n/a
21	chr2:96804750-96804800	AG04449	skin:	fetal
22	chr2:96804247-96804297	NHDF-neo	bronchial:	n/a
23	chr2:96804757-96804807	GM19239	blood:	n/a
24	chr2:96804750-96804800	GM12891	blood:	n/a
25	chr2:96804750-96804800	AoSMC	blood vessel:	n/a
26	chr2:96805411-96805461	K562	blood:	n/a
27	chr2:96804247-96804297	IMR90	lung:	fetal
28	chr2:96804247-96804297	HPAEpiC	pulmonary alveolar:	n/a
29	chr2:96805411-96805461	A549	lung:	n/a
30	chr2:96804750-96804800	GM12878	blood:	n/a
31	chr2:96804757-96804807	MCF10A-Er-Src	breast:	n/a
32	chr2:96805411-96805461	Jurkat	blood:	n/a
33	chr2:96804247-96804297	HMEC	breast:	n/a
34	chr2:96804757-96804807	SAEC	small airway:	n/a
35	chr2:96804757-96804807	NHDF-neo	bronchial:	n/a
36	chr2:96804750-96804800	HRCEpiC	kidney:	n/a
37	chr2:96804757-96804807	SK-N-SH_RA	brain:	n/a
38	chr2:96804757-96804807	RPTEC	kidney:	n/a
39	chr2:96804750-96804800	SK-N-SH_RA	brain:	n/a
40	chr2:96804750-96804800	HEEpiC	esophagus:	n/a
41	chr2:96805411-96805461	H1-hESC	embryonic stem cell:	embryo
42	chr2:96805411-96805461	AoSMC	blood vessel:	n/a
43	chr2:96805411-96805461	NT2-D1	testis:	n/a
44	chr2:96804757-96804807	U87	brain:	n/a
45	chr2:96804750-96804800	HCT-116	colon:	n/a
46	chr2:96804247-96804297	SK-N-SH	brain:	n/a
47	chr2:96804750-96804800	A549	lung:	n/a
48	chr2:96805411-96805461	NHDF-neo	bronchial:	n/a
49	chr2:96805411-96805461	GM12891	blood:	n/a
50	chr2:96805411-96805461	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:96802498..96805773-chr2:96872667..96874693,3	MCF-7	breast:
2	chr2:96804543..96806580-chr2:96830322..96833179,2	MCF-7	breast:
3	chr2:96804451..96805110-chr2:96926335..96927296,3	MCF-7	breast:
4	chr2:96802971..96805127-chr2:96925819..96928248,3	MCF-7	breast:
5	chr2:96796461..96799345-chr2:96805007..96806650,2	MCF-7	breast:
6	chr2:96804240..96806780-chr2:96931719..96933407,3	MCF-7	breast:
7	chr2:96804554..96806114-chr2:96838145..96840506,2	MCF-7	breast:
8	chr2:96805325..96808167-chr2:96818748..96821415,2	MCF-7	breast:
9	chr2:96803968..96806803-chr2:96872820..96874681,2	K562	blood:
10	chr2:96801466..96803641-chr2:96873708..96877456,3	MCF-7	breast:

Variant related genes	Relation type
ASTL	TF binding region
ASTL	CpG island
ENSG00000144021	chromatin interactions
ENSG00000084090	chromatin interactions
ENSG00000204685	chromatin interactions
ENSG00000135956	chromatin interactions

Extended variants
information (count: 90 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560531475	chr2:96803272-96803273	Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs201089480	chr2:96803281-96803282	Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs373826673	chr2:96803290-96803291	Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs367890759	chr2:96803291-96803292	Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs531981555	chr2:96803293-96803294	Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs76474398	chr2:96803300-96803301	Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs369615325	chr2:96803308-96803309	Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs200681308	chr2:96803312-96803313	Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs142516442	chr2:96803345-96803346	Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs141044848	chr2:96803367-96803368	Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs549700718	chr2:96803372-96803373	Enhancers Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs372563533	chr2:96803405-96803406	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs377208655	chr2:96803423-96803424	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs569867697	chr2:96803424-96803425	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs199725925	chr2:96803457-96803458	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs368941593	chr2:96803487-96803488	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs113470935	chr2:96803497-96803498	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs550429887	chr2:96803521-96803522	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs534709305	chr2:96803532-96803533	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs76169496	chr2:96803533-96803534	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs145750874	chr2:96803543-96803544	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs562456188	chr2:96803555-96803556	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs529822445	chr2:96803564-96803565	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs548391788	chr2:96803595-96803596	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs567650419	chr2:96803637-96803638	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs375731931	chr2:96803713-96803714	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs74607502	chr2:96803722-96803723	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs557249465	chr2:96803730-96803731	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs574196567	chr2:96803740-96803741	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs541524249	chr2:96803779-96803780	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs535159889	chr2:96803856-96803857	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs546787914	chr2:96803860-96803861	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs2969490	chr2:96803904-96803905	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs78968551	chr2:96803918-96803919	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs541024738	chr2:96803958-96803959	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs373075445	chr2:96804027-96804028	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs373003880	chr2:96804069-96804070	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs72825845	chr2:96804107-96804108	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs34600524	chr2:96804194-96804195	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs371392620	chr2:96804235-96804236	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs370429384	chr2:96804262-96804263	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs529103611	chr2:96804283-96804284	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs549028061	chr2:96804308-96804309	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs13385856	chr2:96804336-96804337	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs13401707	chr2:96804363-96804364	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs111396766	chr2:96804379-96804380	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs557673096	chr2:96804390-96804391	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs576037796	chr2:96804417-96804418	Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs112870165	chr2:96804431-96804432	Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs192011561	chr2:96804491-96804492	Weak transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	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
Ovarian cancer	21781307	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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21990379	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96786400-96804200	Weak transcription	Primary B cells from cord blood	blood
2	chr2:96787800-96807800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr2:96788200-96804400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr2:96789800-96804400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr2:96792000-96808000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:96795800-96804000	Weak transcription	Fetal Thymus	thymus
7	chr2:96796000-96804800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:96797600-96803400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:96798000-96809400	Weak transcription	Gastric	stomach
10	chr2:96798600-96803400	Weak transcription	Esophagus	oesophagus
11	chr2:96800000-96804800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr2:96802000-96805400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr2:96802000-96805400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:96802200-96803400	Strong transcription	Primary T cells from cord blood	blood
15	chr2:96802200-96804400	Weak transcription	Thymus	Thymus
16	chr2:96802600-96810200	Weak transcription	HSMMtube	muscle
17	chr2:96803000-96804600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:96803000-96805400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr2:96803200-96803400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr2:96803200-96803600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:96803200-96803600	Enhancers	Spleen	Spleen
22	chr2:96803200-96805200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:96803400-96803600	Bivalent Enhancer	Placenta	Placenta
24	chr2:96803400-96804000	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr2:96803400-96805000	Weak transcription	Primary T cells from cord blood	blood
26	chr2:96803400-96805400	Enhancers	Esophagus	oesophagus
27	chr2:96803400-96805400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr2:96803600-96803800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:96803600-96803800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:96803600-96804000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr2:96803600-96804200	Bivalent Enhancer	Stomach Mucosa	stomach
32	chr2:96803600-96804400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr2:96803600-96805200	Enhancers	Colonic Mucosa	Colon
34	chr2:96803600-96805600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:96803600-96808000	Weak transcription	Spleen	Spleen
36	chr2:96803600-96809200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:96803800-96804000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr2:96803800-96804200	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr2:96803800-96804400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:96803800-96804800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:96803800-96805400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr2:96804000-96804200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
43	chr2:96804000-96804200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr2:96804000-96804200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:96804000-96804400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr2:96804000-96804400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr2:96804000-96804800	Enhancers	Pancreas	Pancrea
48	chr2:96804000-96805200	Enhancers	Fetal Intestine Large	intestine
49	chr2:96804000-96805200	Enhancers	Fetal Intestine Small	intestine
50	chr2:96804000-96805200	Enhancers	Rectal Mucosa Donor 29	rectum

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