Variant report

Variant	nsv872896
Chromosome Location	chr1:195058871-195164692
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	ATF2	chr1:195164239-195165053	GM12878	blood:	n/a	n/a
2	ATF2	chr1:195164308-195165083	GM12878	blood:	n/a	n/a
3	BACH1	chr1:195122285-195122583	K562	blood:	n/a	n/a
4	BACH1	chr1:195122356-195122540	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr1:195164462-195165019	GM12878	blood:	n/a	n/a
6	BATF	chr1:195164439-195165066	GM12878	blood:	n/a	n/a
7	BCL11A	chr1:195164392-195165066	GM12878	blood:	n/a	n/a
8	BCL11A	chr1:195164332-195165095	GM12878	blood:	n/a	n/a
9	BCL3	chr1:195164564-195164876	GM12878	blood:	n/a	n/a
10	BCL3	chr1:195164566-195164924	GM12878	blood:	n/a	n/a
11	BCLAF1	chr1:195164321-195165003	GM12878	blood:	n/a	n/a
12	BCLAF1	chr1:195164254-195165079	GM12878	blood:	n/a	n/a
13	BHLHE40	chr1:195164335-195165128	GM12878	blood:	n/a	n/a
14	CBX3	chr1:195066317-195066989	HCT-116	colon:	n/a	n/a
15	CBX3	chr1:195066119-195066969	HCT-116	colon:	n/a	n/a
16	CCNT2	chr1:195082155-195082271	K562	blood:	n/a	n/a
17	CEBPB	chr1:195156773-195157427	HepG2	liver:	n/a	chr1:195157261-195157272
18	CEBPB	chr1:195164512-195164921	GM12878	blood:	n/a	n/a
19	CEBPB	chr1:195162289-195162607	K562	blood:	n/a	chr1:195162449-195162460
20	CEBPB	chr1:195162289-195162624	IMR90	lung:	n/a	chr1:195162449-195162460
21	CEBPB	chr1:195162286-195162586	A549	lung:	n/a	chr1:195162449-195162460
22	CEBPB	chr1:195162301-195162522	H1-hESC	embryonic stem cell:	n/a	chr1:195162449-195162460
23	CEBPB	chr1:195156777-195157417	IMR90	lung:	n/a	chr1:195157261-195157272
24	CEBPB	chr1:195162288-195162620	HepG2	liver:	n/a	chr1:195162449-195162460
25	CEBPB	chr1:195164233-195165111	GM12878	blood:	n/a	n/a
26	CEBPB	chr1:195155506-195155683	A549	lung:	n/a	n/a
27	CEBPB	chr1:195085449-195085677	HepG2	liver:	n/a	chr1:195085517-195085528 chr1:195085516-195085529 chr1:195085564-195085575 chr1:195085564-195085575
28	CEBPB	chr1:195128391-195128567	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr1:195104306-195104383	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr1:195128405-195128660	IMR90	lung:	n/a	n/a
31	CEBPB	chr1:195138686-195138889	HepG2	liver:	n/a	chr1:195138791-195138802 chr1:195138790-195138801 chr1:195138790-195138803
32	CEBPB	chr1:195065089-195065188	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr1:195164408-195165021	GM12878	blood:	n/a	n/a
34	CREB1	chr1:195164327-195165176	GM12878	blood:	n/a	n/a
35	CREB1	chr1:195164430-195165056	GM12878	blood:	n/a	n/a
36	CTCF	chr1:195143034-195143110	MCF-7	breast:	n/a	n/a
37	CTCF	chr1:195074552-195074668	Gliobla	brain:	n/a	n/a
38	CTCF	chr1:195142940-195143090	GM12872	blood:	n/a	n/a
39	CTCF	chr1:195074527-195074708	GM19239	blood:	n/a	n/a
40	CTCF	chr1:195074524-195074707	GM19240	blood:	n/a	n/a
41	CTCF	chr1:195074560-195074710	GM12870	blood:	n/a	n/a
42	CTCF	chr1:195154400-195154550	K562	blood:	n/a	n/a
43	CTCF	chr1:195083780-195083930	MCF-7	breast:	n/a	n/a
44	CTCF	chr1:195143020-195143170	GM12866	blood:	n/a	n/a
45	CTCF	chr1:195143020-195143170	GM12864	blood:	n/a	n/a
46	CTCF	chr1:195072100-195072250	MCF-7	breast:	n/a	n/a
47	CTCF	chr1:195143020-195143170	HMEC	breast:	n/a	n/a
48	CTCF	chr1:195142920-195143070	GM12865	blood:	n/a	n/a
49	CTCF	chr1:195074529-195074720	GM12878	blood:	n/a	n/a
50	CTCF	chr1:195143038-195143154	GM10248	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:195130839..195132878-chr1:195138252..195140071,2	K562	blood:
2	chr1:195130839..195132878-chr1:195138252..195140071,2	K562	blood:
3	chr1:195076488..195078314-chr16:29816661..29818822,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265108	TF binding region
ENSG00000103495	chromatin interactions

Extended variants
information (count: 662 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:662 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368979065	chr1:195063086-195063087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35236785	chr1:195063088-195063089	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs530419310	chr1:195063094-195063095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548629131	chr1:195063118-195063119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs67928178	chr1:195063122-195063123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs183476643	chr1:195063125-195063126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552827979	chr1:195063126-195063127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10494722	chr1:195063150-195063151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs35459023	chr1:195063188-195063189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs547410502	chr1:195063189-195063190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7518089	chr1:195063243-195063244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs373966497	chr1:195063246-195063247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7518103	chr1:195063274-195063275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs554600441	chr1:195063275-195063276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576299975	chr1:195063306-195063307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571507682	chr1:195063311-195063312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536816254	chr1:195063315-195063316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34420016	chr1:195063326-195063327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558332383	chr1:195063359-195063360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188414766	chr1:195063363-195063364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142307953	chr1:195063387-195063388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7526195	chr1:195063390-195063391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs574775240	chr1:195063397-195063398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138629158	chr1:195063412-195063413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191290698	chr1:195063439-195063440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs397864323	chr1:195063448-195063449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74930880	chr1:195063471-195063472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144030371	chr1:195063474-195063475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7549422	chr1:195063481-195063482	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs2171977	chr1:195063524-195063525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148881029	chr1:195063528-195063529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183099903	chr1:195063530-195063531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547556743	chr1:195063537-195063538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143530422	chr1:195063560-195063561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs137939524	chr1:195063562-195063563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116392881	chr1:195063565-195063566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142393587	chr1:195063581-195063582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535836666	chr1:195063591-195063592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548189832	chr1:195063617-195063618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527783658	chr1:195063636-195063637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376049348	chr1:195063684-195063685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7549617	chr1:195063694-195063695	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs7526472	chr1:195063701-195063702	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs186586072	chr1:195063731-195063732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191426675	chr1:195063738-195063739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184680501	chr1:195063754-195063755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs710158	chr1:195063774-195063775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7526559	chr1:195063785-195063786	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs566054646	chr1:195063798-195063799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550462252	chr1:195063799-195063800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Melanoma	20688739	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
Breast cancer	21364760	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Maculopathy	22355348	CNVD
Schizophrenia	21346763	CNVD
early-passage human iPS cells	21368824	CNVD
Recurrent pregnancy loss	19789632	CNVD
Autism	21865298	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
small cell lung cancer	20016488	CNVD
Ollier disease	21235737	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Maculopathy	21850184	CNVD
Schizophrenia	20967226	CNVD
Oral cancer	21386901	CNVD
Maculopathy	22022419	CNVD
Breast cancer	22522925	CNVD
Asthma	20841430	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195063000-195065400	Weak transcription	Right Atrium	heart
2	chr1:195063600-195064000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:195064000-195066200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:195065200-195065600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:195065200-195065600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:195065400-195065600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr1:195065400-195065600	ZNF genes & repeats	Right Atrium	heart
8	chr1:195066200-195067200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:195066200-195067200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:195066200-195067600	Enhancers	HMEC	breast
11	chr1:195066400-195066800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:195066400-195067000	Enhancers	NHEK	skin
13	chr1:195066400-195067200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:195128600-195129200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr1:195128800-195130200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr1:195128800-195130400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr1:195129200-195129600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:195129200-195130200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:195129600-195130400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:195130000-195130400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr1:195130000-195130400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:195130200-195130600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr1:195135800-195136200	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr1:195154600-195155800	Enhancers	Fetal Brain Female	brain
25	chr1:195157200-195157800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:195157200-195157800	Enhancers	Colon Smooth Muscle	Colon
27	chr1:195157600-195158000	Enhancers	Rectal Smooth Muscle	rectum
28	chr1:195157800-195159000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:195159000-195160000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:195163800-195164000	Enhancers	GM12878-XiMat	blood
31	chr1:195164000-195164600	Weak transcription	GM12878-XiMat	blood
32	chr1:195164400-195165000	Active TSS	Primary T cells from cord blood	blood
33	chr1:195164400-195165000	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr1:195164400-195165000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:195164400-195165000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:195164400-195165000	Active TSS	NHDF-Ad	bronchial
37	chr1:195164400-195165200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr1:195164400-195165200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr1:195164600-195164800	Enhancers	GM12878-XiMat	blood
40	chr1:195164600-195165000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:195164600-195165000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:195164600-195165000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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