Variant report

Variant	nsv430398
Chromosome Location	chr11:62881839-62914202
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:259)
CpG islands
(count:244)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:62910088-62910415	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr11:62906992-62907098	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr11:62889471-62889574	HepG2	liver:	n/a	n/a
4	CTCF	chr11:62895660-62895810	GM12866	blood:	n/a	n/a
5	CTCF	chr11:62895680-62895830	AG10803	skin:	n/a	n/a
6	CTCF	chr11:62895542-62895844	T-47D	breast:	n/a	n/a
7	CTCF	chr11:62895680-62895830	HCT-116	colon:	n/a	n/a
8	CTCF	chr11:62895624-62895868	HepG2	liver:	n/a	n/a
9	CTCF	chr11:62895680-62895830	GM12864	blood:	n/a	n/a
10	CTCF	chr11:62895680-62895830	NHEK	skin:	n/a	n/a
11	CTCF	chr11:62895419-62895924	A549	lung:	n/a	n/a
12	CTCF	chr11:62895652-62895852	Pancreas_OC	pancreas:	n/a	n/a
13	CTCF	chr11:62895720-62895870	RPTEC	kidney:	n/a	n/a
14	CTCF	chr11:62895680-62895830	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr11:62895700-62895850	BJ	skin:	n/a	n/a
16	CTCF	chr11:62895686-62895812	GM20000	blood:	n/a	n/a
17	CTCF	chr11:62895634-62895878	MCF-7	breast:	n/a	n/a
18	CTCF	chr11:62895626-62895879	K562	blood:	n/a	n/a
19	CTCF	chr11:62895680-62895830	GM12872	blood:	n/a	n/a
20	CTCF	chr11:62895654-62895837	NHEK	skin:	n/a	n/a
21	CTCF	chr11:62895660-62895810	GM12871	blood:	n/a	n/a
22	CTCF	chr11:62895636-62895866	LNCaP	prostate:	n/a	n/a
23	CTCF	chr11:62895700-62895850	GM12873	blood:	n/a	n/a
24	CTCF	chr11:62895680-62895830	GM12875	blood:	n/a	n/a
25	CTCF	chr11:62895660-62895810	GM12864	blood:	n/a	n/a
26	CTCF	chr11:62895640-62895790	AG10803	skin:	n/a	n/a
27	CTCF	chr11:62895700-62895850	GM12871	blood:	n/a	n/a
28	CTCF	chr11:62895640-62895790	AoAF	blood vessel:	n/a	n/a
29	CTCF	chr11:62895680-62895830	WERI-Rb-1	eye:	n/a	n/a
30	CTCF	chr11:62895626-62895870	MCF-7	breast:	n/a	n/a
31	CTCF	chr11:62890010-62890139	Lung_OC	lung:	n/a	n/a
32	CTCF	chr11:62895700-62895850	HMEC	breast:	n/a	n/a
33	CTCF	chr11:62895657-62895857	GM12878	blood:	n/a	n/a
34	CTCF	chr11:62895658-62895841	GM19239	blood:	n/a	n/a
35	CTCF	chr11:62895640-62895861	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr11:62895660-62895810	GM12865	blood:	n/a	n/a
37	CTCF	chr11:62895680-62895830	Caco-2	colon:	n/a	n/a
38	CTCF	chr11:62895680-62895830	AG09319	gingival:	n/a	n/a
39	CTCF	chr11:62895509-62895849	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr11:62895700-62895850	NHDF-neo	bronchial:	n/a	n/a
41	CTCF	chr11:62895605-62895918	MCF-7	breast:	n/a	n/a
42	CTCF	chr11:62895680-62895830	HA-sp	spinal cord:	n/a	n/a
43	CTCF	chr11:62895611-62895926	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr11:62895700-62895850	SAEC	small airway:	n/a	n/a
45	CTCF	chr11:62895520-62895670	HFF-Myc	foreskin:	n/a	n/a
46	CTCF	chr11:62895618-62895910	T-47D	breast:	n/a	n/a
47	CTCF	chr11:62895580-62895730	HRPEpiC	eye:	n/a	n/a
48	CTCF	chr11:62895600-62895750	HFF	foreskin:	n/a	n/a
49	CTCF	chr11:62895660-62895810	GM12868	blood:	n/a	n/a
50	CTCF	chr11:62895680-62895830	HCPEpiC	choroid plexus:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:62911616-62911666	PrEC	prostate:	n/a
2	chr11:62903717-62903767	GM12891	blood:	n/a
3	chr11:62903717-62903767	AG04450	lung:	fetal
4	chr11:62911616-62911666	HRE	kidney:	n/a
5	chr11:62911616-62911666	MCF10A-Er-Src	breast:	n/a
6	chr11:62895811-62895861	SK-N-SH	brain:	n/a
7	chr11:62912823-62912873	SAEC	small airway:	n/a
8	chr11:62903717-62903767	LNCaP	prostate:	n/a
9	chr11:62895811-62895861	ovcar-3	ovarian:	n/a
10	chr11:62903717-62903767	HRPEpiC	eye:	n/a
11	chr11:62903717-62903767	AG09309	skin:	n/a
12	chr11:62895811-62895861	GM12891	blood:	n/a
13	chr11:62895811-62895861	GM06990	blood:	n/a
14	chr11:62903717-62903767	GM12878	blood:	n/a
15	chr11:62895811-62895861	PrEC	prostate:	n/a
16	chr11:62903717-62903767	HMEC	breast:	n/a
17	chr11:62911616-62911666	LNCaP	prostate:	n/a
18	chr11:62903717-62903767	MCF10A-Er-Src	breast:	n/a
19	chr11:62912823-62912873	K562	blood:	n/a
20	chr11:62912823-62912873	T-47D	breast:	n/a
21	chr11:62912823-62912873	BE2_C	brain:	n/a
22	chr11:62912823-62912873	NHDF-neo	bronchial:	n/a
23	chr11:62895811-62895861	HMEC	breast:	n/a
24	chr11:62903717-62903767	SK-N-SH_RA	brain:	n/a
25	chr11:62911616-62911666	PANC-1	pancreas:	n/a
26	chr11:62903717-62903767	HEK293	kidney:	embryo
27	chr11:62903717-62903767	HepG2	liver:	n/a
28	chr11:62903717-62903767	SK-N-MC	brain:	n/a
29	chr11:62895811-62895861	AG04449	skin:	fetal
30	chr11:62895811-62895861	AG04450	lung:	fetal
31	chr11:62903717-62903767	PrEC	prostate:	n/a
32	chr11:62912823-62912873	GM12878	blood:	n/a
33	chr11:62911616-62911666	BJ	skin:	n/a
34	chr11:62912823-62912873	HRCEpiC	kidney:	n/a
35	chr11:62912823-62912873	NH-A	brain:	n/a
36	chr11:62911616-62911666	NHDF-neo	bronchial:	n/a
37	chr11:62911616-62911666	HPAEpiC	pulmonary alveolar:	n/a
38	chr11:62912823-62912873	SK-N-SH	brain:	n/a
39	chr11:62912823-62912873	GM12891	blood:	n/a
40	chr11:62912823-62912873	HMEC	breast:	n/a
41	chr11:62911616-62911666	AG04449	skin:	fetal
42	chr11:62912823-62912873	AG04449	skin:	fetal
43	chr11:62895811-62895861	SK-N-MC	brain:	n/a
44	chr11:62903717-62903767	NT2-D1	testis:	n/a
45	chr11:62912823-62912873	U87	brain:	n/a
46	chr11:62911616-62911666	HIPEpiC	eye:	n/a
47	chr11:62912823-62912873	PFSK-1	brain:	n/a
48	chr11:62911616-62911666	HCT-116	colon:	n/a
49	chr11:62911616-62911666	HEK293	kidney:	embryo
50	chr11:62895811-62895861	Hela-S3	cervix:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:62885383..62887108-chr11:62890801..62892716,2	K562	blood:
2	chr11:62913836..62916578-chr11:62923107..62925108,2	MCF-7	breast:
3	chr11:62895693..62896269-chr11:62979891..62980787,2	MCF-7	breast:
4	chr11:62885255..62885775-chr3:160939134..160940048,2	HCT-116	colon:
5	chr11:62885732..62888321-chr11:62888957..62891249,2	MCF-7	breast:
6	chr11:62885383..62887108-chr11:62890801..62892716,2	K562	blood:
7	chr11:62885732..62888321-chr11:62888957..62891249,2	MCF-7	breast:

No data

Variant related genes	Relation type
SLC22A24	TF binding region
RPL29P22	TF binding region
SLC22A10	TF binding region
SLC22A24	CpG island
RPL29P22	CpG island
SLC22A10	CpG island
ENSG00000169251	chromatin interactions

Extended variants
information (count: 303 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200178202	chr11:62884870-62884871	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs574499547	chr11:62884880-62884881	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs146371073	chr11:62884889-62884890	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs557714235	chr11:62884954-62884955	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs35436466	chr11:62884984-62884985	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs368556115	chr11:62884992-62884993	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs138388507	chr11:62885000-62885001	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs546458168	chr11:62885022-62885023	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs375392561	chr11:62885039-62885040	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs559904290	chr11:62885048-62885049	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs545190332	chr11:62885067-62885068	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs573207140	chr11:62885102-62885103	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs542326797	chr11:62885114-62885115	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs532284163	chr11:62885264-62885265	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs528888305	chr11:62885272-62885273	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs181714842	chr11:62885310-62885311	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs141209848	chr11:62885337-62885338	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs1939743	chr11:62885353-62885354	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs548298591	chr11:62885360-62885361	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs568038944	chr11:62885369-62885370	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs187590279	chr11:62885420-62885421	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs537090139	chr11:62885447-62885448	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs557675197	chr11:62885452-62885453	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs367874949	chr11:62885496-62885497	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs571114873	chr11:62885514-62885515	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540126544	chr11:62885545-62885546	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs565784086	chr11:62885555-62885556	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs534879137	chr11:62885579-62885580	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs553260848	chr11:62885584-62885585	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs573420203	chr11:62885615-62885616	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs117981872	chr11:62885636-62885637	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs200954536	chr11:62885695-62885696	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs397755405	chr11:62885703-62885704	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs397783848	chr11:62885704-62885705	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs199922324	chr11:62885705-62885706	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs190982059	chr11:62885724-62885725	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs183268932	chr11:62885791-62885792	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs11823791	chr11:62888121-62888122	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs574994168	chr11:62888134-62888135	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs568591309	chr11:62900004-62900005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7952201	chr11:62900013-62900014	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs191924832	chr11:62900016-62900017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75038767	chr11:62900026-62900027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6591763	chr11:62900027-62900028	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs184854035	chr11:62900055-62900056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576445574	chr11:62900059-62900060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187755444	chr11:62900106-62900107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148781039	chr11:62900118-62900119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75166026	chr11:62900133-62900134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541003074	chr11:62900160-62900161	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20409316	CNVD
Spinal muscular atrophy	17160897	CNVD
Retinitis pigmentosa	17160897	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62900000-62900800	Enhancers	Pancreas	Pancrea
2	chr11:62900200-62900400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr11:62900400-62900800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr11:62900400-62900800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr11:62900600-62900800	Enhancers	Duodenum Mucosa	Duodenum
6	chr11:62908800-62910800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:62909600-62909800	Enhancers	Fetal Intestine Large	intestine
8	chr11:62909600-62910400	Enhancers	HUVEC	blood vessel
9	chr11:62909800-62910800	Weak transcription	Fetal Intestine Large	intestine
10	chr11:62910400-62911800	Weak transcription	HUVEC	blood vessel
11	chr11:62910800-62911400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:62910800-62912600	Enhancers	Fetal Intestine Large	intestine
13	chr11:62911200-62912800	Enhancers	Fetal Intestine Small	intestine
14	chr11:62911400-62914400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:62911800-62913200	Enhancers	HUVEC	blood vessel
16	chr11:62912400-62913400	Enhancers	Left Ventricle	heart
17	chr11:62912600-62913000	Enhancers	Adipose Nuclei	Adipose
18	chr11:62912600-62913600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr11:62913200-62913600	Flanking Active TSS	HUVEC	blood vessel
20	chr11:62913600-62915000	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links