Variant report

Variant	nsv971986
Chromosome Location	chr11:9625730-9628863
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:139)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:139 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:9628527-9628940	HepG2	liver:	n/a	n/a
2	ATF1	chr11:9627364-9627652	K562	blood:	n/a	n/a
3	BHLHE40	chr11:9628817-9628825	K562	blood:	n/a	n/a
4	BHLHE40	chr11:9627453-9627500	K562	blood:	n/a	n/a
5	CEBPB	chr11:9627392-9627608	K562	blood:	n/a	n/a
6	CEBPB	chr11:9627348-9627655	K562	blood:	n/a	n/a
7	CHD2	chr11:9628636-9628983	HepG2	liver:	n/a	n/a
8	CTCF	chr11:9628281-9629550	A549	lung:	n/a	n/a
9	CTCF	chr11:9628680-9628830	Caco-2	colon:	n/a	n/a
10	CTCF	chr11:9628697-9628881	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr11:9628740-9628890	GM12872	blood:	n/a	n/a
12	CTCF	chr11:9628668-9628839	A549	lung:	n/a	n/a
13	CTCF	chr11:9628679-9628890	HepG2	liver:	n/a	n/a
14	CTCF	chr11:9628760-9628910	HepG2	liver:	n/a	n/a
15	CTCF	chr11:9628680-9628830	WERI-Rb-1	eye:	n/a	n/a
16	CTCF	chr11:9628740-9628890	HMF	breast:	n/a	n/a
17	CTCF	chr11:9628660-9628810	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr11:9628680-9628830	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr11:9628720-9628870	A549	lung:	n/a	n/a
20	CTCF	chr11:9628680-9628830	K562	blood:	n/a	n/a
21	CTCF	chr11:9628620-9628907	HepG2	liver:	n/a	n/a
22	CTCF	chr11:9628582-9628930	A549	lung:	n/a	n/a
23	CTCF	chr11:9628620-9628927	K562	blood:	n/a	n/a
24	CTCF	chr11:9628697-9628871	LNCaP	prostate:	n/a	n/a
25	CTCF	chr11:9628760-9628910	HEK293	kidney:	n/a	n/a
26	CTCF	chr11:9628660-9628810	HFF-Myc	foreskin:	n/a	n/a
27	CTCF	chr11:9628780-9628930	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr11:9628756-9628833	Gliobla	brain:	n/a	n/a
29	CTCF	chr11:9628760-9628910	SAEC	small airway:	n/a	n/a
30	CTCF	chr11:9628620-9628770	HEK293	kidney:	n/a	n/a
31	CTCF	chr11:9628542-9629022	MCF-7	breast:	n/a	n/a
32	CTCF	chr11:9628740-9628890	HCT-116	colon:	n/a	n/a
33	CTCF	chr11:9628674-9628883	K562	blood:	n/a	n/a
34	CTCF	chr11:9628660-9628810	GM12864	blood:	n/a	n/a
35	CTCF	chr11:9628558-9628949	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr11:9628700-9628850	HMF	breast:	n/a	n/a
37	CTCF	chr11:9628620-9628770	GM06990	blood:	n/a	n/a
38	CTCF	chr11:9628671-9628884	MCF-7	breast:	n/a	n/a
39	CTCF	chr11:9628680-9628830	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr11:9628700-9628850	HMEC	breast:	n/a	n/a
41	CTCF	chr11:9628620-9628850	HFF	foreskin:	n/a	n/a
42	CTCF	chr11:9628760-9628910	K562	blood:	n/a	n/a
43	CTCF	chr11:9628680-9628830	GM12864	blood:	n/a	n/a
44	CTCF	chr11:9628760-9628910	Caco-2	colon:	n/a	n/a
45	CTCF	chr11:9628568-9628924	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr11:9628731-9628858	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr11:9628800-9628950	GM12872	blood:	n/a	n/a
48	CTCF	chr11:9628540-9628690	GM12864	blood:	n/a	n/a
49	CTCF	chr11:9628760-9628910	GM12864	blood:	n/a	n/a
50	CTCF	chr11:9628671-9629011	MCF-7	breast:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9602719..9605077-chr11:9625885..9628580,3	K562	blood:
2	chr11:9625163..9627064-chr11:9628384..9630291,2	MCF-7	breast:
3	chr11:9479980..9482925-chr11:9627285..9628824,2	MCF-7	breast:
4	chr11:9628848..9631872-chr11:9634232..9636277,3	MCF-7	breast:
5	chr11:9628308..9628896-chr11:9770047..9770638,2	MCF-7	breast:
6	chr11:9593380..9601954-chr11:9626466..9639393,32	K562	blood:
7	chr11:9628381..9630279-chr11:9630483..9632846,2	K562	blood:
8	chr11:9625163..9627064-chr11:9628384..9630291,2	MCF-7	breast:
9	chr11:9628715..9629243-chr11:9769841..9770445,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000243964	TF binding region
ENSG00000238387	chromatin interactions
ENSG00000166478	chromatin interactions
ENSG00000166483	chromatin interactions
ENSG00000268403	chromatin interactions

Extended variants
information (count: 129 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569094386	chr11:9625830-9625831	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs11601647	chr11:9625840-9625841	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs554236371	chr11:9625856-9625857	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs188719189	chr11:9625878-9625879	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs149902685	chr11:9625890-9625891	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs28673334	chr11:9625897-9625898	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs376114570	chr11:9625898-9625899	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs575589165	chr11:9625908-9625909	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs35564118	chr11:9625913-9625914	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs192023611	chr11:9625963-9625964	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs185380320	chr11:9625964-9625965	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs566606060	chr11:9625988-9625989	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs190106639	chr11:9625990-9625991	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs542755127	chr11:9626011-9626012	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs537093609	chr11:9626119-9626120	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs7123221	chr11:9626149-9626150	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs561391499	chr11:9626152-9626153	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs544840037	chr11:9626229-9626230	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs543126401	chr11:9626233-9626234	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs558163045	chr11:9626253-9626254	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs578224750	chr11:9626281-9626282	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs539830207	chr11:9626349-9626350	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs560217817	chr11:9626369-9626370	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs528968312	chr11:9626480-9626481	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs550400275	chr11:9626502-9626503	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs55818048	chr11:9626509-9626510	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs201962641	chr11:9626520-9626521	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs562626306	chr11:9626521-9626522	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs144926551	chr11:9626528-9626529	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs187393398	chr11:9626590-9626591	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs573515028	chr11:9626621-9626622	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs149034047	chr11:9626635-9626636	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs371026692	chr11:9626658-9626659	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs143013977	chr11:9626697-9626698	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs36084509	chr11:9626699-9626700	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs12805920	chr11:9626764-9626765	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs71034724	chr11:9626790-9626791	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs559133112	chr11:9626807-9626808	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs549066710	chr11:9626813-9626814	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs58502841	chr11:9626814-9626815	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs538044545	chr11:9626825-9626826	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs111630425	chr11:9626834-9626835	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs558364404	chr11:9626852-9626853	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs187955717	chr11:9626863-9626864	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs141412946	chr11:9626879-9626880	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs377423907	chr11:9626885-9626886	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs180864860	chr11:9626948-9626949	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs10840268	chr11:9626950-9626951	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs185325093	chr11:9626952-9626953	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs562562817	chr11:9626955-9626956	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9597200-9635000	Weak transcription	Pancreas	Pancrea
2	chr11:9610600-9627200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:9610600-9635000	Weak transcription	Aorta	Aorta
4	chr11:9623200-9628200	Weak transcription	Fetal Intestine Large	intestine
5	chr11:9623400-9627600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:9623400-9628400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:9623400-9628600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:9623400-9631600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:9623400-9634600	Weak transcription	Thymus	Thymus
10	chr11:9623600-9625800	Enhancers	Primary B cells from peripheral blood	blood
11	chr11:9623600-9628200	Weak transcription	Fetal Intestine Small	intestine
12	chr11:9623600-9628400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:9623600-9628600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:9623600-9628800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:9623600-9630400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:9623600-9631400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:9623600-9631600	Weak transcription	Placenta	Placenta
18	chr11:9623600-9633600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:9623600-9634200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:9623600-9634600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:9623600-9634800	Weak transcription	Esophagus	oesophagus
22	chr11:9623600-9635000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:9624000-9628800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:9624200-9626600	Enhancers	GM12878-XiMat	blood
25	chr11:9624200-9628400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:9624200-9628400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:9624200-9628800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:9624200-9634800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:9624400-9628800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:9624400-9634200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:9624400-9634200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:9624400-9635000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:9625000-9626600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr11:9625000-9626600	Enhancers	Dnd41	blood
35	chr11:9625400-9625800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr11:9625400-9625800	Enhancers	NH-A	brain
37	chr11:9625600-9625800	Enhancers	K562	blood
38	chr11:9625600-9625800	Enhancers	NHLF	lung
39	chr11:9625600-9626000	Enhancers	Fetal Thymus	thymus
40	chr11:9625600-9628200	Weak transcription	HepG2	liver
41	chr11:9625800-9626000	Weak transcription	NHLF	lung
42	chr11:9625800-9626400	Weak transcription	K562	blood
43	chr11:9625800-9628400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr11:9625800-9630000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr11:9626400-9629200	Enhancers	K562	blood
46	chr11:9626600-9630400	Weak transcription	GM12878-XiMat	blood
47	chr11:9626600-9632400	Weak transcription	Dnd41	blood
48	chr11:9627600-9627800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:9627800-9628600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:9628200-9628400	Enhancers	HepG2	liver

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