Variant report

Variant	esv3341950
Chromosome Location	chr2:97201450-97203998
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	ATF1	chr2:97202107-97202545	K562	blood:	n/a	n/a
2	ATF2	chr2:97203623-97204133	GM12878	blood:	n/a	chr2:97203712-97203723
3	ATF2	chr2:97202763-97203090	GM12878	blood:	n/a	n/a
4	ATF2	chr2:97202602-97203298	GM12878	blood:	n/a	n/a
5	ATF3	chr2:97202234-97202456	K562	blood:	n/a	chr2:97202363-97202372
6	BACH1	chr2:97202287-97203063	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr2:97202720-97203080	GM12878	blood:	n/a	n/a
8	BCL11A	chr2:97202714-97203094	GM12878	blood:	n/a	chr2:97202735-97202748 chr2:97202916-97202925 chr2:97202986-97202995 chr2:97202754-97202767 chr2:97203022-97203035 chr2:97203021-97203034
9	BCL11A	chr2:97202750-97203127	GM12878	blood:	n/a	chr2:97202916-97202925 chr2:97202986-97202995 chr2:97202754-97202767 chr2:97203022-97203035 chr2:97203021-97203034
10	BCL3	chr2:97202255-97203209	GM12878	blood:	n/a	chr2:97202735-97202748 chr2:97202916-97202925 chr2:97202986-97202995 chr2:97202754-97202767 chr2:97202575-97202588 chr2:97202256-97202265 chr2:97203022-97203035 chr2:97202363-97202376 chr2:97203021-97203034
11	BCLAF1	chr2:97202167-97203312	GM12878	blood:	n/a	chr2:97202735-97202748 chr2:97202916-97202925 chr2:97202986-97202995 chr2:97202754-97202767 chr2:97202575-97202588 chr2:97202256-97202265 chr2:97203022-97203035 chr2:97202363-97202376 chr2:97203021-97203034
12	BCLAF1	chr2:97202614-97203438	GM12878	blood:	n/a	chr2:97202735-97202748 chr2:97202916-97202925 chr2:97202986-97202995 chr2:97202754-97202767 chr2:97203022-97203035 chr2:97203021-97203034
13	BHLHE40	chr2:97202831-97203100	K562	blood:	n/a	chr2:97202975-97202991
14	BHLHE40	chr2:97202313-97203238	GM12878	blood:	n/a	chr2:97202975-97202991 chr2:97203154-97203170 chr2:97202751-97202767
15	BHLHE40	chr2:97202476-97202498	K562	blood:	n/a	n/a
16	BRCA1	chr2:97202480-97202655	GM12878	blood:	n/a	n/a
17	BRCA1	chr2:97203044-97203425	GM12878	blood:	n/a	n/a
18	CCNT2	chr2:97202242-97203234	K562	blood:	n/a	chr2:97202363-97202372
19	CEBPB	chr2:97202949-97203228	HepG2	liver:	n/a	n/a
20	CEBPB	chr2:97202906-97203215	A549	lung:	n/a	n/a
21	CEBPB	chr2:97203007-97203158	HepG2	liver:	n/a	n/a
22	CEBPB	chr2:97202975-97203297	K562	blood:	n/a	n/a
23	CEBPB	chr2:97202866-97203042	GM12878	blood:	n/a	n/a
24	CEBPB	chr2:97202992-97203234	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr2:97202615-97203285	GM12878	blood:	n/a	n/a
26	CEBPB	chr2:97202874-97203300	IMR90	lung:	n/a	n/a
27	CEBPB	chr2:97202919-97203296	HepG2	liver:	n/a	n/a
28	CEBPB	chr2:97202977-97203180	K562	blood:	n/a	n/a
29	CEBPD	chr2:97202172-97202763	HepG2	liver:	n/a	n/a
30	CHD1	chr2:97202388-97205218	GM12878	blood:	n/a	chr2:97204608-97204618 chr2:97204475-97204485
31	CHD2	chr2:97202172-97205104	GM12878	blood:	n/a	chr2:97204608-97204618 chr2:97204475-97204485
32	CHD2	chr2:97202159-97202641	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr2:97202195-97202481	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr2:97202190-97202531	K562	blood:	n/a	n/a
35	CHD2	chr2:97202264-97202547	HepG2	liver:	n/a	n/a
36	CREB1	chr2:97202085-97202640	HepG2	liver:	n/a	n/a
37	CREB1	chr2:97202147-97202546	ECC-1	luminal epithelium:	n/a	n/a
38	CREB1	chr2:97202114-97202652	A549	lung:	n/a	n/a
39	CREB1	chr2:97202192-97202492	A549	lung:	n/a	n/a
40	CREB1	chr2:97202120-97203949	GM12878	blood:	n/a	chr2:97203711-97203724
41	CREB1	chr2:97202146-97202657	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr2:97202171-97202508	ECC-1	luminal epithelium:	n/a	n/a
43	CREB1	chr2:97201949-97203502	HepG2	liver:	n/a	n/a
44	CREB1	chr2:97202114-97202646	K562	blood:	n/a	n/a
45	CTBP2	chr2:97202842-97205011	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr2:97203140-97203290	GM12874	blood:	n/a	n/a
47	CTCF	chr2:97202180-97202330	AG09309	skin:	n/a	n/a
48	CTCF	chr2:97202180-97202330	Caco-2	colon:	n/a	n/a
49	CTCF	chr2:97202040-97202190	GM12866	blood:	n/a	n/a
50	CTCF	chr2:97201900-97202050	WI-38	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:97202260-97202310	U87	brain:	n/a
2	chr2:97203154-97203204	AoSMC	blood vessel:	n/a
3	chr2:97202435-97202485	BJ	skin:	n/a
4	chr2:97202323-97202373	SAEC	small airway:	n/a
5	chr2:97203154-97203204	SKMC	muscle:	n/a
6	chr2:97202475-97202525	LNCaP	prostate:	n/a
7	chr2:97202314-97202364	PrEC	prostate:	n/a
8	chr2:97203640-97203690	HIPEpiC	eye:	n/a
9	chr2:97202435-97202485	HEEpiC	esophagus:	n/a
10	chr2:97202260-97202310	NT2-D1	testis:	n/a
11	chr2:97202475-97202525	PANC-1	pancreas:	n/a
12	chr2:97202435-97202485	NHDF-neo	bronchial:	n/a
13	chr2:97202435-97202485	HEK293	kidney:	embryo
14	chr2:97202323-97202373	HEK293	kidney:	embryo
15	chr2:97202435-97202485	MCF-7	breast:	n/a
16	chr2:97202323-97202373	ECC-1	luminal epithelium:	n/a
17	chr2:97203640-97203690	HCT-116	colon:	n/a
18	chr2:97202475-97202525	AG04449	skin:	fetal
19	chr2:97202323-97202373	GM12878	blood:	n/a
20	chr2:97202435-97202485	AG04449	skin:	fetal
21	chr2:97203154-97203204	Hepatocyte	liver:	n/a
22	chr2:97203640-97203690	Hepatocyte	liver:	n/a
23	chr2:97202323-97202373	HCM	heart:	n/a
24	chr2:97202260-97202310	HIPEpiC	eye:	n/a
25	chr2:97202260-97202310	Caco-2	colon:	n/a
26	chr2:97202314-97202364	GM12891	blood:	n/a
27	chr2:97202435-97202485	HCF	heart:	n/a
28	chr2:97202475-97202525	HEK293	kidney:	embryo
29	chr2:97203154-97203204	NHBE	bronchial:	n/a
30	chr2:97202475-97202525	HRCEpiC	kidney:	n/a
31	chr2:97202314-97202364	HRE	kidney:	n/a
32	chr2:97202314-97202364	Caco-2	colon:	n/a
33	chr2:97202435-97202485	PFSK-1	brain:	n/a
34	chr2:97202323-97202373	HIPEpiC	eye:	n/a
35	chr2:97202260-97202310	AoSMC	blood vessel:	n/a
36	chr2:97202323-97202373	SKMC	muscle:	n/a
37	chr2:97203640-97203690	HRCEpiC	kidney:	n/a
38	chr2:97202475-97202525	SK-N-MC	brain:	n/a
39	chr2:97202475-97202525	Jurkat	blood:	n/a
40	chr2:97202260-97202310	Hepatocyte	liver:	n/a
41	chr2:97202260-97202310	MCF-7	breast:	n/a
42	chr2:97203640-97203690	PrEC	prostate:	n/a
43	chr2:97203640-97203690	PFSK-1	brain:	n/a
44	chr2:97202323-97202373	RPTEC	kidney:	n/a
45	chr2:97202323-97202373	SK-N-MC	brain:	n/a
46	chr2:97202435-97202485	AG04450	lung:	fetal
47	chr2:97202475-97202525	MCF10A-Er-Src	breast:	n/a
48	chr2:97202435-97202485	AG09309	skin:	n/a
49	chr2:97202475-97202525	T-47D	breast:	n/a
50	chr2:97203154-97203204	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:97202384..97205156-chr2:97302029..97304901,3	K562	blood:
2	chr2:97170365..97172764-chr2:97201540..97203996,4	MCF-7	breast:
3	chr16:2652795..2653544-chr2:97202310..97202810,2	Hela-S3	cervix:
4	chr2:97203587..97206099-chr2:97306427..97308814,2	K562	blood:
5	chr2:96872802..96875592-chr2:97201053..97203640,2	K562	blood:
6	chr2:96810913..96812434-chr2:97200569..97202109,2	MCF-7	breast:
7	chr12:48222905..48223893-chr2:97202019..97202875,2	Hela-S3	cervix:
8	chr2:97202384..97205156-chr2:97301374..97305632,4	K562	blood:
9	chr2:97203428..97206003-chr2:97302263..97304751,2	MCF-7	breast:
10	chr2:96873119..96874915-chr2:97202040..97204570,2	K562	blood:
11	chr2:97200182..97202893-chr2:97212843..97214474,2	MCF-7	breast:

Variant related genes	Relation type
ARID5A	TF binding region
ENSG00000235480	TF binding region
ARID5A	CpG island
ENSG00000235480	CpG island
ENSG00000215154	chromatin interactions
ENSG00000163121	chromatin interactions
ENSG00000257488	chromatin interactions
ENSG00000204685	chromatin interactions
ENSG00000196843	chromatin interactions
ENSG00000114982	chromatin interactions
ENSG00000158050	chromatin interactions
ENSG00000084090	chromatin interactions
ENSG00000249715	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56089330	chr2:97201477-97201478	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs530732522	chr2:97201553-97201554	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs544368400	chr2:97201560-97201561	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs192396658	chr2:97201577-97201578	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs142980082	chr2:97201580-97201581	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs182955359	chr2:97201594-97201595	Weak transcription Enhancers Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs560489780	chr2:97201664-97201665	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs2579500	chr2:97201682-97201683	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs188707800	chr2:97201726-97201727	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs374415640	chr2:97201744-97201745	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs56219342	chr2:97201765-97201766	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs36005340	chr2:97201872-97201873	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs542106423	chr2:97201873-97201874	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs55935940	chr2:97201907-97201908	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs199835081	chr2:97201908-97201909	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs368311326	chr2:97201921-97201922	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs11691243	chr2:97202072-97202073	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs538182790	chr2:97202080-97202081	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs375079034	chr2:97202119-97202120	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs13013773	chr2:97202130-97202131	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs548745968	chr2:97202134-97202135	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs568599510	chr2:97202140-97202141	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs538643640	chr2:97202151-97202152	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs13020073	chr2:97202198-97202199	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs2708978	chr2:97202243-97202244	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs552601264	chr2:97202248-97202249	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs13020129	chr2:97202267-97202268	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs572615786	chr2:97202288-97202289	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs13018837	chr2:97202310-97202311	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs538216209	chr2:97202363-97202364	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs558154332	chr2:97202437-97202438	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs71386015	chr2:97202460-97202461	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs374892963	chr2:97202480-97202481	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs55768571	chr2:97202490-97202491	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs577923454	chr2:97202518-97202519	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs561129356	chr2:97202529-97202530	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs367751304	chr2:97202603-97202604	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs540432345	chr2:97202606-97202607	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs560536650	chr2:97202815-97202816	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs373343757	chr2:97202859-97202860	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs552581590	chr2:97202881-97202882	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs371277839	chr2:97202940-97202941	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs376741653	chr2:97202945-97202946	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs34605721	chr2:97202970-97202971	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs114244789	chr2:97203061-97203062	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs532020516	chr2:97203081-97203082	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs548647173	chr2:97203082-97203083	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs140907364	chr2:97203092-97203093	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs201732677	chr2:97203093-97203094	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs34382822	chr2:97203096-97203097	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:504 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97194000-97202600	Enhancers	Placenta	Placenta
2	chr2:97194400-97202400	Enhancers	Lung	lung
3	chr2:97194800-97202000	Weak transcription	Liver	Liver
4	chr2:97197000-97201800	Enhancers	HSMMtube	muscle
5	chr2:97197200-97202400	Enhancers	Brain Angular Gyrus	brain
6	chr2:97197200-97202400	Enhancers	Gastric	stomach
7	chr2:97197400-97202400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:97197400-97202400	Enhancers	Psoas Muscle	Psoas
9	chr2:97197800-97202000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:97197800-97202400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr2:97198000-97202000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:97198000-97202000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:97198000-97202000	Enhancers	Adipose Nuclei	Adipose
14	chr2:97198000-97202000	Enhancers	Colonic Mucosa	Colon
15	chr2:97198000-97202000	Enhancers	Duodenum Mucosa	Duodenum
16	chr2:97198000-97202200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:97198000-97202200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:97198000-97202200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr2:97198000-97202400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:97198000-97202400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:97198000-97202400	Enhancers	Left Ventricle	heart
22	chr2:97198000-97202400	Enhancers	Right Ventricle	heart
23	chr2:97198000-97202400	Enhancers	HMEC	breast
24	chr2:97198200-97202000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:97198200-97202000	Weak transcription	Thymus	Thymus
26	chr2:97198200-97202400	Enhancers	Fetal Muscle Leg	muscle
27	chr2:97198200-97202600	Weak transcription	Fetal Kidney	kidney
28	chr2:97198400-97201800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr2:97198400-97202000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:97198400-97202400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:97198400-97203200	Weak transcription	Fetal Brain Male	brain
32	chr2:97198600-97201600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:97198600-97202000	Weak transcription	Fetal Intestine Large	intestine
34	chr2:97198600-97202200	Weak transcription	Small Intestine	intestine
35	chr2:97198800-97201600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:97198800-97201600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr2:97198800-97201600	Weak transcription	Dnd41	blood
38	chr2:97198800-97202000	Weak transcription	Fetal Intestine Small	intestine
39	chr2:97199000-97201600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:97199000-97201600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:97199000-97201600	Weak transcription	Pancreas	Pancrea
42	chr2:97199000-97202000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr2:97199000-97202400	Weak transcription	Aorta	Aorta
44	chr2:97199200-97201600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr2:97199200-97202000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:97199400-97201600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:97199400-97201600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:97199400-97202000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr2:97199400-97202200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr2:97199600-97201600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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