Variant report

Variant	nsv872967
Chromosome Location	chr1:196643762-196652834
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	EP300	chr1:196647429-196648169	SK-N-SH	brain:	n/a	n/a
2	EP300	chr1:196649087-196649874	SK-N-SH	brain:	n/a	n/a
3	EP300	chr1:196649290-196649536	SK-N-SH_RA	brain:	n/a	n/a
4	EP300	chr1:196647637-196648015	T-47D	breast:	n/a	n/a
5	EP300	chr1:196643861-196644549	T-47D	breast:	n/a	n/a
6	FOS	chr1:196649242-196649598	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr1:196649235-196649590	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr1:196649271-196649591	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr1:196649228-196649612	HUVEC	blood vessel:	n/a	n/a
10	FOS	chr1:196649220-196649594	MCF10A-Er-Src	breast:	n/a	n/a
11	FOSL2	chr1:196649119-196649682	SK-N-SH	brain:	n/a	n/a
12	FOXA1	chr1:196643833-196644378	T-47D	breast:	n/a	n/a
13	GATA2	chr1:196647688-196648145	HUVEC	blood vessel:	n/a	n/a
14	GATA3	chr1:196647631-196648125	T-47D	breast:	n/a	n/a
15	GATA3	chr1:196646818-196648223	SK-N-SH	brain:	n/a	n/a
16	GATA3	chr1:196643845-196644355	SK-N-SH	brain:	n/a	chr1:196644161-196644178 chr1:196644297-196644305 chr1:196644287-196644304
17	GATA3	chr1:196646864-196648273	SK-N-SH	brain:	n/a	n/a
18	GATA3	chr1:196643869-196644483	T-47D	breast:	n/a	chr1:196644161-196644178 chr1:196644297-196644305 chr1:196644287-196644304
19	GATA3	chr1:196647700-196647982	MCF-7	breast:	n/a	n/a
20	GATA3	chr1:196647625-196648071	T-47D	breast:	n/a	n/a
21	GATA3	chr1:196643849-196644677	MCF-7	breast:	n/a	chr1:196644161-196644178 chr1:196644297-196644305 chr1:196644287-196644304
22	GATA3	chr1:196644183-196644219	SH-SY5Y	brain:	n/a	n/a
23	GATA3	chr1:196643863-196644525	T-47D	breast:	n/a	chr1:196644161-196644178 chr1:196644297-196644305 chr1:196644287-196644304
24	GATA3	chr1:196647260-196647574	T-47D	breast:	n/a	n/a
25	GATA3	chr1:196649070-196649704	SK-N-SH	brain:	n/a	n/a
26	GATA3	chr1:196649073-196649779	SK-N-SH	brain:	n/a	n/a
27	GATA3	chr1:196643926-196644514	MCF-7	breast:	n/a	chr1:196644161-196644178 chr1:196644297-196644305 chr1:196644287-196644304
28	GATA3	chr1:196643849-196644466	SK-N-SH	brain:	n/a	chr1:196644161-196644178 chr1:196644297-196644305 chr1:196644287-196644304
29	JUND	chr1:196647265-196648081	T-47D	breast:	n/a	n/a
30	JUND	chr1:196643854-196644563	T-47D	breast:	n/a	chr1:196644462-196644473 chr1:196644096-196644106
31	MAFK	chr1:196646870-196647121	HepG2	liver:	n/a	chr1:196646992-196647007
32	MAFK	chr1:196646870-196647080	HepG2	liver:	n/a	chr1:196646992-196647007
33	NFIC	chr1:196649061-196649804	SK-N-SH	brain:	n/a	n/a
34	NFIC	chr1:196647465-196648164	SK-N-SH	brain:	n/a	n/a
35	PBX3	chr1:196649099-196649730	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr1:196649213-196649547	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr1:196652708-196652741	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr1:196648780-196653277	K562	blood:	n/a	n/a
39	POLR2A	chr1:196645685-196645761	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr1:196649658-196649830	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr1:196645081-196645120	GM12878	blood:	n/a	n/a
42	POLR2A	chr1:196647664-196647961	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr1:196649836-196649857	MCF10A-Er-Src	breast:	n/a	n/a
44	SIN3AK20	chr1:196643925-196644696	MCF-7	breast:	n/a	n/a
45	STAT3	chr1:196648204-196648638	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr1:196649386-196649472	MCF10A-Er-Src	breast:	n/a	n/a
47	TAF1	chr1:196649303-196649462	SK-N-SH	brain:	n/a	n/a
48	TAF1	chr1:196647673-196647884	SK-N-SH	brain:	n/a	n/a
49	TCF12	chr1:196649024-196649766	SK-N-SH	brain:	n/a	n/a
50	TCF12	chr1:196647473-196648165	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:196620544..196622948-chr1:196643117..196644938,2	K562	blood:
2	chr1:196594698..196597154-chr1:196642219..196645210,2	K562	blood:
3	chr1:196650074..196651729-chr1:196657061..196658986,2	K562	blood:
4	chr1:196650074..196651729-chr1:196657061..196659074,3	K562	blood:

Variant related genes	Relation type
CFH	TF binding region
ENSG00000000971	chromatin interactions

Extended variants
information (count: 365 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:365 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34181066	chr1:196643762-196643763	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs575839314	chr1:196643783-196643784	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs545970046	chr1:196643793-196643794	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs185574783	chr1:196643810-196643811	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs147204367	chr1:196643811-196643812	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs189543062	chr1:196643854-196643855	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs540202225	chr1:196643864-196643865	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs561757626	chr1:196643919-196643920	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs529893074	chr1:196643930-196643931	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs566267422	chr1:196643944-196643945	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs117464455	chr1:196643973-196643974	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs575344061	chr1:196644003-196644004	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs180685764	chr1:196644040-196644041	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs187436442	chr1:196644053-196644054	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs148446145	chr1:196644060-196644061	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs143650806	chr1:196644117-196644118	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs546577030	chr1:196644140-196644141	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs191944013	chr1:196644204-196644205	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs147206149	chr1:196644230-196644231	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs557672883	chr1:196644280-196644281	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs183058319	chr1:196644283-196644284	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs539997346	chr1:196644350-196644351	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs557948108	chr1:196644371-196644372	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs185791501	chr1:196644380-196644381	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs190233524	chr1:196644381-196644382	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs370202862	chr1:196644382-196644383	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs561745205	chr1:196644449-196644450	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs182576862	chr1:196644497-196644498	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs541742425	chr1:196644599-196644600	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs535565916	chr1:196644617-196644618	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs140687268	chr1:196644784-196644785	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs55874457	chr1:196644785-196644786	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs536407592	chr1:196644813-196644814	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs540488532	chr1:196644828-196644829	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs192715337	chr1:196644848-196644849	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs182386164	chr1:196644859-196644860	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs564280628	chr1:196644925-196644926	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs528144204	chr1:196644940-196644941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369487905	chr1:196644941-196644942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374445009	chr1:196644942-196644943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56237321	chr1:196644945-196644946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546762242	chr1:196644961-196644962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568051993	chr1:196645009-196645010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112026050	chr1:196645013-196645014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140618003	chr1:196645051-196645052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550967449	chr1:196645058-196645059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369221218	chr1:196645073-196645074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373036907	chr1:196645095-196645096	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs113004102	chr1:196645117-196645118	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs376321145	chr1:196645122-196645123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196628800-196679400	Weak transcription	Psoas Muscle	Psoas
2	chr1:196629200-196672600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:196630200-196646400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:196637200-196646800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:196639200-196647800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:196639200-196647800	Weak transcription	Ovary	ovary
7	chr1:196639200-196650000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:196639200-196657800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:196639600-196647800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:196639600-196662400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:196639800-196654200	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:196639800-196670400	Weak transcription	Adipose Nuclei	Adipose
13	chr1:196640000-196644400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:196640000-196676800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:196640200-196657000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:196640800-196647000	Weak transcription	NH-A	brain
17	chr1:196641000-196650400	Strong transcription	Dnd41	blood
18	chr1:196641400-196665800	Strong transcription	Liver	Liver
19	chr1:196641800-196654800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:196642000-196652400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:196642000-196675200	Weak transcription	Fetal Stomach	stomach
22	chr1:196642200-196647000	Strong transcription	HSMM	muscle
23	chr1:196642600-196647000	Weak transcription	Osteobl	bone
24	chr1:196643200-196643800	Strong transcription	Hela-S3	cervix
25	chr1:196643400-196644400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr1:196643400-196646800	Weak transcription	NHLF	lung
27	chr1:196643800-196645400	Weak transcription	Hela-S3	cervix
28	chr1:196644400-196645600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:196644400-196647800	Weak transcription	HUVEC	blood vessel
30	chr1:196644400-196648200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:196645600-196647000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr1:196646000-196678400	Weak transcription	K562	blood
33	chr1:196646200-196654800	Weak transcription	Esophagus	oesophagus
34	chr1:196646600-196648200	Enhancers	NHDF-Ad	bronchial
35	chr1:196646600-196648400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:196646800-196648200	Enhancers	NHLF	lung
37	chr1:196646800-196648400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:196647000-196647200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr1:196647000-196647800	Enhancers	NH-A	brain
40	chr1:196647000-196648200	Genic enhancers	HSMM	muscle
41	chr1:196647000-196648200	Enhancers	Osteobl	bone
42	chr1:196647000-196649600	Enhancers	HMEC	breast
43	chr1:196647200-196649000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:196647200-196650000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr1:196647800-196648000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:196647800-196648200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:196647800-196648200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:196647800-196648200	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr1:196647800-196648200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:196647800-196648200	Strong transcription	Ovary	ovary

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