Variant report

Variant	nsv971981
Chromosome Location	chr11:4608014-4615942
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	CTCF	chr11:4608647-4608714	ProgFib	skin:	n/a	n/a
2	CTCF	chr11:4612260-4612410	Caco-2	colon:	n/a	n/a
3	E2F4	chr11:4612646-4612846	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr11:4612550-4612879	MCF10A-Er-Src	breast:	n/a	chr11:4612718-4612730 chr11:4612719-4612729 chr11:4612719-4612729 chr11:4612719-4612729 chr11:4612719-4612728 chr11:4612719-4612729
5	FOS	chr11:4612546-4612901	MCF10A-Er-Src	breast:	n/a	chr11:4612718-4612730 chr11:4612719-4612729 chr11:4612719-4612729 chr11:4612719-4612729 chr11:4612719-4612728 chr11:4612719-4612729
6	FOS	chr11:4612544-4612862	MCF10A-Er-Src	breast:	n/a	chr11:4612718-4612730 chr11:4612719-4612729 chr11:4612719-4612729 chr11:4612719-4612729 chr11:4612719-4612728 chr11:4612719-4612729
7	FOS	chr11:4612547-4612891	MCF10A-Er-Src	breast:	n/a	chr11:4612718-4612730 chr11:4612719-4612729 chr11:4612719-4612729 chr11:4612719-4612729 chr11:4612719-4612728 chr11:4612719-4612729
8	JUND	chr11:4612617-4612839	HepG2	liver:	n/a	chr11:4612718-4612729 chr11:4612718-4612730 chr11:4612719-4612729 chr11:4612719-4612729 chr11:4612719-4612729 chr11:4612719-4612728 chr11:4612719-4612729
9	JUND	chr11:4608584-4608684	HepG2	liver:	n/a	chr11:4608617-4608628
10	MAFK	chr11:4614603-4614770	HepG2	liver:	n/a	chr11:4614708-4614719 chr11:4614708-4614719
11	MYC	chr11:4608320-4608338	H1-hESC	embryonic stem cell:	n/a	n/a
12	MYC	chr11:4608164-4608317	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:4608624-4608662	K562	blood:	n/a	n/a
14	POLR2A	chr11:4615113-4615241	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr11:4615305-4615332	K562	blood:	n/a	n/a
16	POLR2A	chr11:4613534-4613681	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr11:4611280-4611310	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr11:4615671-4615865	Gliobla	brain:	n/a	n/a
19	POLR2A	chr11:4608055-4608221	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:4615038-4615206	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr11:4615530-4615810	K562	blood:	n/a	n/a
22	POLR2A	chr11:4612643-4612759	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr11:4608461-4608473	K562	blood:	n/a	n/a
24	POLR2A	chr11:4613815-4614140	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr11:4615228-4615291	K562	blood:	n/a	n/a
26	POLR2A	chr11:4608498-4608552	K562	blood:	n/a	n/a
27	POLR2A	chr11:4615334-4615452	K562	blood:	n/a	n/a
28	POLR2A	chr11:4610715-4610847	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:4615540-4615590	GM06990	blood:	n/a
2	chr11:4615063-4615113	Hepatocyte	liver:	n/a
3	chr11:4608359-4608409	MCF10A-Er-Src	breast:	n/a
4	chr11:4608359-4608409	SK-N-SH	brain:	n/a
5	chr11:4615540-4615590	ECC-1	luminal epithelium:	n/a
6	chr11:4615063-4615113	IMR90	lung:	fetal
7	chr11:4615063-4615113	T-47D	breast:	n/a
8	chr11:4608359-4608409	GM12878	blood:	n/a
9	chr11:4615540-4615590	HL-60	blood:	n/a
10	chr11:4615540-4615590	HRCEpiC	kidney:	n/a
11	chr11:4608359-4608409	T-47D	breast:	n/a
12	chr11:4615063-4615113	MCF-7	breast:	n/a
13	chr11:4615063-4615113	HCPEpiC	choroid plexus:	n/a
14	chr11:4615063-4615113	NB4	blood:	n/a
15	chr11:4608359-4608409	HUVEC	blood vessel:	n/a
16	chr11:4608359-4608409	Jurkat	blood:	n/a
17	chr11:4615063-4615113	H1-hESC	embryonic stem cell:	embryo
18	chr11:4615540-4615590	AG04450	lung:	fetal
19	chr11:4615540-4615590	HCPEpiC	choroid plexus:	n/a
20	chr11:4608359-4608409	AoSMC	blood vessel:	n/a
21	chr11:4615540-4615590	HEK293	kidney:	embryo
22	chr11:4615063-4615113	HRE	kidney:	n/a
23	chr11:4615540-4615590	MCF-7	breast:	n/a
24	chr11:4608359-4608409	Hepatocyte	liver:	n/a
25	chr11:4608359-4608409	GM12892	blood:	n/a
26	chr11:4608359-4608409	A549	lung:	n/a
27	chr11:4608359-4608409	AG09319	gingival:	n/a
28	chr11:4608359-4608409	HEEpiC	esophagus:	n/a
29	chr11:4608359-4608409	GM06990	blood:	n/a
30	chr11:4608359-4608409	IMR90	lung:	fetal
31	chr11:4615063-4615113	BE2_C	brain:	n/a
32	chr11:4615540-4615590	BE2_C	brain:	n/a
33	chr11:4615063-4615113	HAEpiC	amniotic membrane:	n/a
34	chr11:4615063-4615113	HL-60	blood:	n/a
35	chr11:4615063-4615113	MCF10A-Er-Src	breast:	n/a
36	chr11:4608359-4608409	PFSK-1	brain:	n/a
37	chr11:4615063-4615113	HNPCEpiC	eye:	n/a
38	chr11:4615063-4615113	PFSK-1	brain:	n/a
39	chr11:4615063-4615113	Caco-2	colon:	n/a
40	chr11:4615540-4615590	HRPEpiC	eye:	n/a
41	chr11:4608359-4608409	GM12891	blood:	n/a
42	chr11:4615540-4615590	AG04449	skin:	fetal
43	chr11:4615063-4615113	NH-A	brain:	n/a
44	chr11:4615540-4615590	NH-A	brain:	n/a
45	chr11:4615540-4615590	SK-N-SH	brain:	n/a
46	chr11:4615063-4615113	PANC-1	pancreas:	n/a
47	chr11:4608359-4608409	ECC-1	luminal epithelium:	n/a
48	chr11:4615063-4615113	HRCEpiC	kidney:	n/a
49	chr11:4615063-4615113	HepG2	liver:	n/a
50	chr11:4615063-4615113	HCF	heart:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4604767..4606458-chr11:4610235..4612075,2	K562	blood:
2	chr11:4598261..4600650-chr11:4609395..4611487,2	K562	blood:

Variant related genes	Relation type
OR52I2	TF binding region
OR52I1	TF binding region
OR52I2	CpG island
OR52I1	CpG island
ENSG00000171987	chromatin interactions

Extended variants
information (count: 319 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:319 , 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	rs114476243	chr11:4609463-4609464	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs16917170	chr11:4609465-4609466	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551320098	chr11:4609498-4609499	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs138593642	chr11:4609516-4609517	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs527977017	chr11:4609535-4609536	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs116084071	chr11:4609550-4609551	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs548935034	chr11:4609557-4609558	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs182958655	chr11:4609601-4609602	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs538087037	chr11:4609675-4609676	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188764541	chr11:4609706-4609707	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs114297435	chr11:4609711-4609712	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs193293834	chr11:4609729-4609730	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs184382966	chr11:4609753-4609754	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572110807	chr11:4609754-4609755	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs536528552	chr11:4609768-4609769	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs371207280	chr11:4609772-4609773	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs576306506	chr11:4609781-4609782	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs543218773	chr11:4609812-4609813	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557365453	chr11:4609821-4609822	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs189093539	chr11:4609871-4609872	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs117799889	chr11:4609878-4609879	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs11032949	chr11:4609885-4609886	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs560106905	chr11:4609913-4609914	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs539903794	chr11:4609919-4609920	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs549630269	chr11:4609920-4609921	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs56337348	chr11:4609976-4609977	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532049744	chr11:4610008-4610009	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs550068751	chr11:4610010-4610011	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs191686214	chr11:4610016-4610017	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs538725943	chr11:4610017-4610018	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs10836325	chr11:4610041-4610042	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs72854943	chr11:4610067-4610068	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs535844576	chr11:4610073-4610074	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs141593675	chr11:4610093-4610094	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs368747326	chr11:4610101-4610102	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs576216195	chr11:4610114-4610115	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs375761292	chr11:4610122-4610123	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs79776300	chr11:4610135-4610136	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs376960090	chr11:4610181-4610182	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs146135649	chr11:4610197-4610198	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs74469593	chr11:4610216-4610217	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs76994102	chr11:4610229-4610230	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs114881680	chr11:4610254-4610255	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs572232436	chr11:4610289-4610290	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs150901159	chr11:4610338-4610339	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs184246277	chr11:4610376-4610377	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs563697358	chr11:4610393-4610394	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs73397801	chr11:4610416-4610417	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs550489013	chr11:4610469-4610470	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs565461662	chr11:4610529-4610530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	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

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4609800-4610000	Enhancers	Left Ventricle	heart
2	chr11:4610000-4619600	Weak transcription	Left Ventricle	heart
3	chr11:4611000-4616800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr11:4611400-4611600	Enhancers	Stomach Mucosa	stomach
5	chr11:4611600-4621400	Weak transcription	Stomach Mucosa	stomach
6	chr11:4611800-4612000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:4611800-4612000	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr11:4612000-4618600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:4612000-4622400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:4612400-4620800	Weak transcription	Brain Substantia Nigra	brain
11	chr11:4612400-4621400	Weak transcription	Small Intestine	intestine
12	chr11:4612600-4616200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:4612600-4616600	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:4612600-4620800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:4612800-4615800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:4612800-4616000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:4612800-4616400	Weak transcription	Ovary	ovary
18	chr11:4612800-4618000	Weak transcription	Primary B cells from cord blood	blood
19	chr11:4612800-4621000	Weak transcription	A549	lung
20	chr11:4613000-4615200	Weak transcription	Primary T cells from cord blood	blood
21	chr11:4613000-4619600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr11:4613400-4619600	Weak transcription	Psoas Muscle	Psoas
23	chr11:4613600-4618600	Weak transcription	Aorta	Aorta
24	chr11:4613600-4619600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:4613600-4621000	Weak transcription	Fetal Kidney	kidney
26	chr11:4613800-4616200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr11:4613800-4618000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:4613800-4618600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:4613800-4619400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:4614000-4619800	Weak transcription	Fetal Lung	lung
31	chr11:4614200-4618400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr11:4614200-4619800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:4614200-4620000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr11:4614400-4616000	Weak transcription	Adipose Nuclei	Adipose
35	chr11:4614400-4618800	Weak transcription	Gastric	stomach
36	chr11:4614600-4616200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:4614600-4618600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr11:4614600-4618600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:4614600-4618600	Weak transcription	Fetal Stomach	stomach
40	chr11:4614600-4620600	Weak transcription	Lung	lung
41	chr11:4614600-4621200	Weak transcription	NHDF-Ad	bronchial
42	chr11:4614600-4622200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:4614800-4618000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr11:4614800-4618600	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr11:4614800-4618600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr11:4614800-4618800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr11:4614800-4619000	Weak transcription	Brain Angular Gyrus	brain
48	chr11:4614800-4619200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr11:4614800-4621400	Weak transcription	HMEC	breast
50	chr11:4615000-4619800	Weak transcription	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links