Variant report

Variant	nsv961920
Chromosome Location	chr2:191081112-191084662
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	chr2:191081597-191081686	MCF-7	breast:	n/a	chr2:191081647-191081656
2	CTCF	chr2:191081580-191081730	HRPEpiC	eye:	n/a	chr2:191081647-191081656
3	CTCF	chr2:191081620-191081770	HCPEpiC	choroid plexus:	n/a	chr2:191081647-191081656
4	CTCF	chr2:191081540-191081690	SK-N-SH_RA	brain:	n/a	chr2:191081647-191081656
5	CTCF	chr2:191081560-191081710	BE2_C	brain:	n/a	chr2:191081647-191081656
6	CTCF	chr2:191081576-191081722	H1-hESC	embryonic stem cell:	n/a	chr2:191081647-191081656
7	CTCF	chr2:191081580-191081730	HEK293	kidney:	n/a	chr2:191081647-191081656
8	CTCF	chr2:191081660-191081950	HCFaa	heart:	n/a	chr2:191081899-191081917 chr2:191081902-191081911 chr2:191081901-191081922
9	CTCF	chr2:191081560-191081710	HCT-116	colon:	n/a	chr2:191081647-191081656
10	CTCF	chr2:191081580-191081730	HepG2	liver:	n/a	chr2:191081647-191081656
11	CTCF	chr2:191081600-191081750	HCPEpiC	choroid plexus:	n/a	chr2:191081647-191081656
12	CTCF	chr2:191081560-191081710	HA-sp	spinal cord:	n/a	chr2:191081647-191081656
13	CTCF	chr2:191081580-191081730	BE2_C	brain:	n/a	chr2:191081647-191081656
14	CTCF	chr2:191081580-191081730	GM12872	blood:	n/a	chr2:191081647-191081656
15	CTCF	chr2:191081620-191081770	HAc	cerebellar:	n/a	chr2:191081647-191081656
16	CTCF	chr2:191081640-191081790	HBMEC	blood vessel:	n/a	chr2:191081647-191081656
17	EBF1	chr2:191081685-191081894	GM12878	blood:	n/a	n/a
18	ELF1	chr2:191081619-191081880	K562	blood:	n/a	chr2:191081722-191081735
19	MAFF	chr2:191083990-191084146	HepG2	liver:	n/a	n/a
20	MAFK	chr2:191083919-191084245	HepG2	liver:	n/a	chr2:191084089-191084104
21	MAFK	chr2:191083972-191084235	HepG2	liver:	n/a	chr2:191084089-191084104
22	NANOG	chr2:191081555-191081782	H1-hESC	embryonic stem cell:	n/a	n/a
23	NFIC	chr2:191081463-191082055	ECC-1	luminal epithelium:	n/a	chr2:191081819-191081836 chr2:191081819-191081835
24	NFIC	chr2:191081639-191081991	SK-N-SH	brain:	n/a	chr2:191081819-191081836 chr2:191081819-191081835
25	NFIC	chr2:191081503-191082010	ECC-1	luminal epithelium:	n/a	chr2:191081819-191081836 chr2:191081819-191081835
26	POLR2A	chr2:191081123-191081300	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr2:191081722-191081748	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr2:191081615-191081718	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr2:191083005-191083020	K562	blood:	n/a	n/a
30	POLR2A	chr2:191081749-191081829	H1-hESC	embryonic stem cell:	n/a	n/a
31	RAD21	chr2:191081569-191081858	H1-hESC	embryonic stem cell:	n/a	n/a
32	RAD21	chr2:191081475-191081864	H1-hESC	embryonic stem cell:	n/a	n/a
33	SIN3A	chr2:191081641-191081860	H1-hESC	embryonic stem cell:	n/a	n/a
34	SPI1	chr2:191081497-191081973	HL-60	blood:	n/a	chr2:191081722-191081735 chr2:191081723-191081736 chr2:191081725-191081734
35	SPI1	chr2:191081656-191081805	K562	blood:	n/a	chr2:191081722-191081735 chr2:191081723-191081736 chr2:191081725-191081734
36	YY1	chr2:191081553-191081897	H1-hESC	embryonic stem cell:	n/a	n/a
37	YY1	chr2:191081497-191081900	H1-hESC	embryonic stem cell:	n/a	n/a
38	ZNF143	chr2:191081471-191081851	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
HIBCH	TF binding region

Extended variants
information (count: 129 )
Associated
traits (count: 48 )

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	rs573612534	chr2:191081131-191081132	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs112141738	chr2:191081193-191081194	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs142028945	chr2:191081211-191081212	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs546973241	chr2:191081218-191081219	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs577328252	chr2:191081234-191081235	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs544657652	chr2:191081381-191081382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564386796	chr2:191081395-191081396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150414298	chr2:191081449-191081450	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547298417	chr2:191081470-191081471	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs180794628	chr2:191081478-191081479	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs572217441	chr2:191081489-191081490	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs79649169	chr2:191081502-191081503	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs550707809	chr2:191081576-191081577	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs71434688	chr2:191081610-191081611	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs185982930	chr2:191081611-191081612	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs56742312	chr2:191081687-191081688	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs566705624	chr2:191081701-191081702	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs371494853	chr2:191081714-191081715	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs556711149	chr2:191081725-191081726	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs138131708	chr2:191081780-191081781	Enhancers Weak transcription Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs371256072	chr2:191081802-191081803	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs573870496	chr2:191081832-191081833	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs531718204	chr2:191081877-191081878	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs538103814	chr2:191081890-191081891	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs113451088	chr2:191081898-191081899	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs549845744	chr2:191081923-191081924	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs115063950	chr2:191081927-191081928	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs561784177	chr2:191081953-191081954	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs544747733	chr2:191081984-191081985	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs559802325	chr2:191082077-191082078	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572077292	chr2:191082082-191082083	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529267001	chr2:191082110-191082111	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540484040	chr2:191082113-191082114	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144398739	chr2:191082117-191082118	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192021496	chr2:191082124-191082125	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551252168	chr2:191082132-191082133	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368534538	chr2:191082187-191082188	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6751238	chr2:191082194-191082195	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs533348002	chr2:191082195-191082196	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533586852	chr2:191082196-191082197	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373272910	chr2:191082197-191082198	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116705890	chr2:191082221-191082222	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534265259	chr2:191082310-191082311	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548914763	chr2:191082383-191082384	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567411584	chr2:191082414-191082415	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10173651	chr2:191082421-191082422	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs577254265	chr2:191082427-191082428	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs74407425	chr2:191082470-191082471	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553315459	chr2:191082477-191082478	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6751588	chr2:191082481-191082482	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:48)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:234 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191046000-191088400	Weak transcription	HSMMtube	muscle
2	chr2:191046600-191086400	Weak transcription	Colonic Mucosa	Colon
3	chr2:191052000-191108800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:191056800-191124600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:191056800-191131800	Weak transcription	NHEK	skin
6	chr2:191057800-191087800	Weak transcription	Fetal Brain Female	brain
7	chr2:191060000-191107000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:191060200-191090600	Weak transcription	A549	lung
9	chr2:191060600-191084000	Weak transcription	HUVEC	blood vessel
10	chr2:191060600-191087800	Weak transcription	Brain Germinal Matrix	brain
11	chr2:191060800-191180000	Weak transcription	Small Intestine	intestine
12	chr2:191061000-191089200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:191062400-191081600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:191062400-191081600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:191062400-191107800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:191062600-191081200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:191062800-191081400	Weak transcription	Placenta	Placenta
18	chr2:191062800-191088000	Weak transcription	Fetal Brain Male	brain
19	chr2:191062800-191088600	Weak transcription	Spleen	Spleen
20	chr2:191063200-191083400	Weak transcription	Lung	lung
21	chr2:191064600-191084400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:191065000-191081400	Weak transcription	Pancreas	Pancrea
23	chr2:191065000-191084400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:191065000-191086600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:191065000-191087800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:191065000-191088600	Weak transcription	Esophagus	oesophagus
27	chr2:191065000-191088800	Weak transcription	Gastric	stomach
28	chr2:191065200-191086400	Weak transcription	Brain Angular Gyrus	brain
29	chr2:191065600-191088200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:191067400-191085600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr2:191067400-191086400	Weak transcription	Stomach Mucosa	stomach
32	chr2:191067600-191109200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:191069800-191087600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:191070800-191083600	Weak transcription	Adipose Nuclei	Adipose
35	chr2:191071000-191085800	Weak transcription	NHDF-Ad	bronchial
36	chr2:191071200-191088000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:191072600-191081600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr2:191073200-191109000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:191074600-191082400	Weak transcription	Fetal Intestine Large	intestine
40	chr2:191075600-191088000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:191076200-191107200	Weak transcription	GM12878-XiMat	blood
42	chr2:191077000-191083200	Weak transcription	Brain Hippocampus Middle	brain
43	chr2:191077000-191083200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr2:191077000-191083600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr2:191077000-191084000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr2:191077000-191085200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr2:191077000-191088800	Weak transcription	Brain Substantia Nigra	brain
48	chr2:191077000-191106800	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr2:191077200-191100200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:191077400-191081400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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