Variant report

Variant	nsv961572
Chromosome Location	chr2:234526394-234559587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:199)
CpG islands
(count:305)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:199 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:234551860-234552010	GM12865	blood:	n/a	n/a
2	CTCF	chr2:234551900-234552050	GM12868	blood:	n/a	n/a
3	CTCF	chr2:234551924-234552056	K562	blood:	n/a	n/a
4	CTCF	chr2:234551900-234552050	SK-N-SH_RA	brain:	n/a	n/a
5	CTCF	chr2:234551920-234552070	HVMF	connective:	n/a	n/a
6	CTCF	chr2:234551840-234551990	AG10803	skin:	n/a	n/a
7	CTCF	chr2:234551904-234552071	HepG2	liver:	n/a	n/a
8	CTCF	chr2:234551880-234552030	AG09309	skin:	n/a	n/a
9	CTCF	chr2:234551980-234552130	HRE	kidney:	n/a	n/a
10	CTCF	chr2:234551900-234552050	NB4	blood:	n/a	n/a
11	CTCF	chr2:234551940-234552090	GM12865	blood:	n/a	n/a
12	CTCF	chr2:234551880-234552030	HRPEpiC	eye:	n/a	n/a
13	CTCF	chr2:234551860-234552010	HMF	breast:	n/a	n/a
14	CTCF	chr2:234551860-234552098	HepG2	liver:	n/a	n/a
15	CTCF	chr2:234551920-234552070	HBMEC	blood vessel:	n/a	n/a
16	CTCF	chr2:234551600-234551750	HCFaa	heart:	n/a	n/a
17	CTCF	chr2:234551920-234552070	HepG2	liver:	n/a	n/a
18	CTCF	chr2:234552120-234552270	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr2:234551900-234552050	HVMF	connective:	n/a	n/a
20	CTCF	chr2:234551900-234552050	GM12875	blood:	n/a	n/a
21	CTCF	chr2:234551940-234552090	GM12873	blood:	n/a	n/a
22	CTCF	chr2:234551900-234552050	AG10803	skin:	n/a	n/a
23	CTCF	chr2:234551620-234551770	GM12874	blood:	n/a	n/a
24	CTCF	chr2:234547630-234547704	MCF-7	breast:	n/a	n/a
25	CTCF	chr2:234551900-234552050	AG04450	lung:	n/a	n/a
26	CTCF	chr2:234551880-234552030	GM06990	blood:	n/a	n/a
27	CTCF	chr2:234551900-234552050	GM12871	blood:	n/a	n/a
28	CTCF	chr2:234551900-234552050	HBMEC	blood vessel:	n/a	n/a
29	CTCF	chr2:234551940-234552090	GM12871	blood:	n/a	n/a
30	CTCF	chr2:234551900-234552050	AoAF	blood vessel:	n/a	n/a
31	CTCF	chr2:234551897-234552087	Pancreas_OC	pancreas:	n/a	n/a
32	CTCF	chr2:234551900-234552050	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr2:234551909-234552096	MCF-7	breast:	n/a	n/a
34	CTCF	chr2:234551880-234552030	GM12872	blood:	n/a	n/a
35	CTCF	chr2:234551940-234552090	HCM	heart:	n/a	n/a
36	CTCF	chr2:234551900-234552050	GM12873	blood:	n/a	n/a
37	CTCF	chr2:234551746-234552214	MCF-7	breast:	n/a	n/a
38	CTCF	chr2:234551920-234552070	AG09309	skin:	n/a	n/a
39	CTCF	chr2:234551800-234551950	HFF-Myc	foreskin:	n/a	n/a
40	CTCF	chr2:234551920-234552070	GM12865	blood:	n/a	n/a
41	CTCF	chr2:234551945-234552041	K562	blood:	n/a	n/a
42	CTCF	chr2:234551940-234552090	GM12878	blood:	n/a	n/a
43	CTCF	chr2:234551896-234552096	MCF-7	breast:	n/a	n/a
44	CTCF	chr2:234545031-234545104	Pancreas_OC	pancreas:	n/a	n/a
45	CTCF	chr2:234551926-234552069	Kidney_OC	kidney:	n/a	n/a
46	CTCF	chr2:234551900-234552050	HAc	cerebellar:	n/a	n/a
47	CTCF	chr2:234551906-234552081	GM12892	blood:	n/a	n/a
48	CTCF	chr2:234547580-234547730	GM12864	blood:	n/a	n/a
49	CTCF	chr2:234551900-234552050	MCF-7	breast:	n/a	n/a
50	CTCF	chr2:234551900-234552050	HCT-116	colon:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234545177-234545227	HPAEpiC	pulmonary alveolar:	n/a
2	chr2:234544462-234544512	HRPEpiC	eye:	n/a
3	chr2:234544462-234544512	BE2_C	brain:	n/a
4	chr2:234544995-234545045	SAEC	small airway:	n/a
5	chr2:234544271-234544321	ECC-1	luminal epithelium:	n/a
6	chr2:234545110-234545160	PANC-1	pancreas:	n/a
7	chr2:234544995-234545045	Hela-S3	cervix:	n/a
8	chr2:234544271-234544321	NHBE	bronchial:	n/a
9	chr2:234545177-234545227	HRCEpiC	kidney:	n/a
10	chr2:234544271-234544321	MCF-7	breast:	n/a
11	chr2:234545110-234545160	HMEC	breast:	n/a
12	chr2:234545177-234545227	LNCaP	prostate:	n/a
13	chr2:234545110-234545160	U87	brain:	n/a
14	chr2:234544271-234544321	HIPEpiC	eye:	n/a
15	chr2:234544271-234544321	H1-hESC	embryonic stem cell:	embryo
16	chr2:234545177-234545227	ECC-1	luminal epithelium:	n/a
17	chr2:234545110-234545160	HRCEpiC	kidney:	n/a
18	chr2:234544462-234544512	SK-N-SH_RA	brain:	n/a
19	chr2:234544462-234544512	ProgFib	skin:	n/a
20	chr2:234545177-234545227	HUVEC	blood vessel:	n/a
21	chr2:234544271-234544321	HEEpiC	esophagus:	n/a
22	chr2:234545110-234545160	HRPEpiC	eye:	n/a
23	chr2:234545177-234545227	AoSMC	blood vessel:	n/a
24	chr2:234544462-234544512	AG04449	skin:	fetal
25	chr2:234544462-234544512	GM12891	blood:	n/a
26	chr2:234544271-234544321	HCM	heart:	n/a
27	chr2:234544462-234544512	PFSK-1	brain:	n/a
28	chr2:234545177-234545227	HCT-116	colon:	n/a
29	chr2:234545110-234545160	ovcar-3	ovarian:	n/a
30	chr2:234544462-234544512	NHBE	bronchial:	n/a
31	chr2:234544271-234544321	BJ	skin:	n/a
32	chr2:234544462-234544512	NH-A	brain:	n/a
33	chr2:234544995-234545045	HIPEpiC	eye:	n/a
34	chr2:234545177-234545227	Caco-2	colon:	n/a
35	chr2:234545177-234545227	GM19239	blood:	n/a
36	chr2:234545177-234545227	HAEpiC	amniotic membrane:	n/a
37	chr2:234545110-234545160	AG04449	skin:	fetal
38	chr2:234545110-234545160	HCF	heart:	n/a
39	chr2:234544462-234544512	SKMC	muscle:	n/a
40	chr2:234545110-234545160	HCM	heart:	n/a
41	chr2:234544271-234544321	SAEC	small airway:	n/a
42	chr2:234545177-234545227	AG09309	skin:	n/a
43	chr2:234545177-234545227	HIPEpiC	eye:	n/a
44	chr2:234544271-234544321	AG09319	gingival:	n/a
45	chr2:234544462-234544512	HEK293	kidney:	embryo
46	chr2:234544271-234544321	NB4	blood:	n/a
47	chr2:234544462-234544512	NT2-D1	testis:	n/a
48	chr2:234545110-234545160	HAEpiC	amniotic membrane:	n/a
49	chr2:234544995-234545045	HAEpiC	amniotic membrane:	n/a
50	chr2:234545110-234545160	A549	lung:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:234534086..234537809-chr2:234597332..234600775,3	MCF-7	breast:
2	2:234492023-234494396..2:234543708-234558325	GM12878	blood:
3	chr2:234448748..234450538-chr2:234553700..234555671,2	K562	blood:
4	2:234543708-234558325..2:234649753-234657866	Hela-S3	cervix:
5	chr2:234557472..234561426-chr2:234563315..234566249,3	K562	blood:
6	2:234543708-234558325..2:234772667-234780240	Hela-S3	cervix:
7	chr2:234544581..234547100-chr2:234548174..234549799,2	MCF-7	breast:

No data

Variant related genes	Relation type
UGT1A13P	TF binding region
UGT1A10	TF binding region
UGT1A13P	CpG island
UGT1A10	CpG island
ENSG00000242515	chromatin interactions
ENSG00000228445	chromatin interactions
ENSG00000167165	chromatin interactions
ENSG00000228949	chromatin interactions
ENSG00000224287	chromatin interactions
ENSG00000227802	chromatin interactions

Extended variants
information (count: 1291 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1291 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1126783	chr2:234526397-234526398	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146937754	chr2:234526422-234526423	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs558062456	chr2:234526436-234526437	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs375473376	chr2:234526440-234526441	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs146181115	chr2:234526443-234526444	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs372060147	chr2:234526454-234526455	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs368274844	chr2:234526466-234526467	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs537316503	chr2:234526472-234526473	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs557545004	chr2:234526474-234526475	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs372427845	chr2:234526481-234526482	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs376692776	chr2:234526490-234526491	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs367811635	chr2:234526495-234526496	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs374078976	chr2:234526505-234526506	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs45504099	chr2:234526510-234526511	Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs200702683	chr2:234526519-234526520	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs572113107	chr2:234526530-234526531	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs200299950	chr2:234526548-234526549	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs144723761	chr2:234526578-234526579	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs200115254	chr2:234526586-234526587	Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs113488922	chr2:234526608-234526609	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs368298766	chr2:234526615-234526616	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs376546843	chr2:234526616-234526617	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs577893199	chr2:234526625-234526626	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs202036752	chr2:234526630-234526631	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs143802527	chr2:234526632-234526633	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs201316544	chr2:234526635-234526636	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs1126785	chr2:234526636-234526637	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs200527608	chr2:234526643-234526644	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs138986007	chr2:234526658-234526659	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs374980275	chr2:234526661-234526662	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs1126788	chr2:234526666-234526667	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs1126790	chr2:234526668-234526669	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs550176017	chr2:234526669-234526670	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs1126793	chr2:234526680-234526681	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs397832535	chr2:234526681-234526682	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs369105473	chr2:234526686-234526687	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs145367192	chr2:234526694-234526695	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs1126798	chr2:234526705-234526706	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs267599267	chr2:234526718-234526719	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs28969669	chr2:234526719-234526720	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs72551324	chr2:234526729-234526730	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs373133620	chr2:234526745-234526746	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs375263871	chr2:234526763-234526764	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs369740303	chr2:234526765-234526766	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs373515510	chr2:234526774-234526775	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs17862841	chr2:234526784-234526785	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs1042590	chr2:234526785-234526786	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs559404302	chr2:234526788-234526789	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs1042591	chr2:234526794-234526795	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs147392512	chr2:234526804-234526805	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Chronic myeloid leukemia	21384125	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234525600-234528200	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr2:234525800-234526400	Enhancers	NHEK	skin
3	chr2:234526000-234526600	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr2:234526200-234526600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
5	chr2:234526600-234526800	Enhancers	Duodenum Mucosa	Duodenum
6	chr2:234526600-234526800	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr2:234526800-234528800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:234526800-234528800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:234528800-234529000	Enhancers	Duodenum Mucosa	Duodenum
10	chr2:234528800-234529600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr2:234537800-234538000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
12	chr2:234538000-234544600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:234544400-234545200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr2:234544600-234544800	Enhancers	Duodenum Mucosa	Duodenum
15	chr2:234544600-234544800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr2:234544600-234545000	Enhancers	Colonic Mucosa	Colon
17	chr2:234544800-234547600	Active TSS	Duodenum Mucosa	Duodenum
18	chr2:234544800-234548400	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr2:234545200-234545600	Active TSS	Rectal Mucosa Donor 31	rectum
20	chr2:234545200-234545800	Active TSS	Colonic Mucosa	Colon
21	chr2:234545200-234546000	Active TSS	Rectal Smooth Muscle	rectum
22	chr2:234545600-234546000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr2:234545800-234547400	Weak transcription	Colonic Mucosa	Colon
24	chr2:234546000-234546800	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr2:234546800-234547200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr2:234547200-234548000	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr2:234547400-234547800	Active TSS	Colonic Mucosa	Colon
28	chr2:234547400-234547800	Enhancers	NHEK	skin
29	chr2:234547400-234548200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:234547400-234548200	Enhancers	HMEC	breast
31	chr2:234547600-234548200	Enhancers	Duodenum Mucosa	Duodenum
32	chr2:234547800-234554000	Weak transcription	Colonic Mucosa	Colon
33	chr2:234548000-234548200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr2:234548200-234548800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr2:234548200-234549400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr2:234548400-234549000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr2:234549400-234550000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr2:234549400-234550000	Enhancers	Stomach Mucosa	stomach
39	chr2:234550000-234551400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr2:234550000-234551400	Weak transcription	Stomach Mucosa	stomach
41	chr2:234551400-234551600	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr2:234551400-234551800	Enhancers	Stomach Mucosa	stomach
43	chr2:234551600-234551800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr2:234551600-234551800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:234551600-234551800	Enhancers	Esophagus	oesophagus
46	chr2:234551600-234553800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr2:234551800-234559200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:234552400-234552600	Enhancers	Esophagus	oesophagus
49	chr2:234553800-234554000	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr2:234553800-234554600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links