Variant report

Variant	nsv961426
Chromosome Location	chr2:86970416-86974654
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	CEBPB	chr2:86974010-86974291	HepG2	liver:	n/a	chr2:86974163-86974174
2	CEBPB	chr2:86974052-86974262	Hela-S3	cervix:	n/a	chr2:86974163-86974174
3	CEBPB	chr2:86974002-86974311	A549	lung:	n/a	chr2:86974163-86974174
4	CTCF	chr2:86973000-86973150	RPTEC	kidney:	n/a	n/a
5	CTCF	chr2:86973123-86973148	GM12878	blood:	n/a	n/a
6	CTCF	chr2:86973000-86973150	A549	lung:	n/a	n/a
7	CTCF	chr2:86973200-86973350	HMEC	breast:	n/a	n/a
8	CTCF	chr2:86973060-86973210	HPAF	blood vessel:	n/a	n/a
9	CTCF	chr2:86973040-86973190	HPF	lung:	n/a	n/a
10	CTCF	chr2:86973094-86973189	K562	blood:	n/a	n/a
11	CTCF	chr2:86973080-86973230	HCPEpiC	choroid plexus:	n/a	n/a
12	GATA3	chr2:86974041-86974413	T-47D	breast:	n/a	n/a
13	JUN	chr2:86970792-86970934	H1-hESC	embryonic stem cell:	n/a	n/a
14	MYC	chr2:86970626-86970687	GM12878	blood:	n/a	n/a
15	STAT3	chr2:86974130-86974183	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr2:86972259-86972260	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:86850257..86852408-chr2:86970682..86973822,3	MCF-7	breast:
2	chr2:86970428..86972701-chr2:86973505..86975478,2	MCF-7	breast:
3	chr2:86972255..86973795-chr2:86976969..86979051,2	K562	blood:
4	chr2:86850136..86852379-chr2:86973884..86976847,2	K562	blood:

Variant related genes	Relation type
RMND5A	TF binding region
ENSG00000153561	chromatin interactions
ENSG00000249884	chromatin interactions
ENSG00000239305	chromatin interactions

Extended variants
information (count: 158 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:158 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568530751	chr2:86970425-86970426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188466632	chr2:86970432-86970433	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs548163412	chr2:86970447-86970448	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567089896	chr2:86970484-86970485	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs563035324	chr2:86970487-86970488	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs201954475	chr2:86970488-86970489	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs377215268	chr2:86970500-86970501	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534463267	chr2:86970511-86970512	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs141078043	chr2:86970582-86970583	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs201105432	chr2:86970619-86970620	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs35434581	chr2:86970622-86970623	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs398080428	chr2:86970625-86970626	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs397873773	chr2:86970626-86970627	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs202149191	chr2:86970627-86970628	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs559198472	chr2:86970634-86970635	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs181312881	chr2:86970654-86970655	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs538356930	chr2:86970679-86970680	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs184846746	chr2:86970690-86970691	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs560893046	chr2:86970698-86970699	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs541905708	chr2:86970727-86970728	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs377041224	chr2:86970800-86970801	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs573067301	chr2:86970804-86970805	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs578060211	chr2:86970826-86970827	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs371547937	chr2:86970830-86970831	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs140193509	chr2:86970833-86970834	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs149819712	chr2:86970838-86970839	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs543979003	chr2:86970871-86970872	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs562287610	chr2:86970873-86970874	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs190142068	chr2:86970883-86970884	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs144805791	chr2:86970907-86970908	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs551875958	chr2:86971008-86971009	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs199772794	chr2:86971009-86971010	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs71377097	chr2:86971076-86971077	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs181742651	chr2:86971087-86971088	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs11313907	chr2:86971101-86971102	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs187338067	chr2:86971106-86971107	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs527997533	chr2:86971135-86971136	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs552868589	chr2:86971242-86971243	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs191206784	chr2:86971245-86971246	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs538469518	chr2:86971258-86971259	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs528306684	chr2:86971288-86971289	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs148532409	chr2:86971296-86971297	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs571543663	chr2:86971311-86971312	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs142897284	chr2:86971332-86971333	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs539836775	chr2:86971333-86971334	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs73947251	chr2:86971347-86971348	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs74807421	chr2:86971369-86971370	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs376547044	chr2:86971385-86971386	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs572379839	chr2:86971447-86971448	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs540154102	chr2:86971453-86971454	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16272173	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86948800-86972600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr2:86949000-86979600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr2:86956800-86971200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:86961600-86971200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:86962200-86975400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:86962200-86977000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:86963600-86972400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:86965200-86978800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:86966800-86970800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:86966800-86977200	Weak transcription	Osteobl	bone
11	chr2:86967000-86971200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr2:86967600-86971400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:86967800-86970600	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:86968000-86971200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:86968200-86971200	Weak transcription	Liver	Liver
16	chr2:86968600-86970800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:86968600-86971000	Weak transcription	Primary B cells from cord blood	blood
18	chr2:86968600-86972600	Weak transcription	Primary T cells from cord blood	blood
19	chr2:86968600-86974800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:86968600-86993000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:86968600-86997600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:86968800-86970600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:86968800-86971200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:86968800-86971400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:86968800-86975000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:86968800-86977000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:86968800-86977000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:86968800-86978600	Weak transcription	Placenta	Placenta
29	chr2:86968800-86980400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:86969000-86970600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:86969000-86970600	Weak transcription	Adipose Nuclei	Adipose
32	chr2:86969000-86970800	Weak transcription	Brain Germinal Matrix	brain
33	chr2:86969000-86971200	Weak transcription	Lung	lung
34	chr2:86969000-86971200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:86969000-86974400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:86969000-86974600	Weak transcription	NHEK	skin
37	chr2:86969200-86971000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:86969200-86971400	Weak transcription	Pancreas	Pancrea
39	chr2:86969200-86975000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:86969200-86977400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:86969200-86986400	Strong transcription	Fetal Thymus	thymus
42	chr2:86969200-86997800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:86969400-86971000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:86969400-86971200	Weak transcription	Spleen	Spleen
45	chr2:86969400-86971200	Weak transcription	GM12878-XiMat	blood
46	chr2:86969400-86971800	Weak transcription	Left Ventricle	heart
47	chr2:86969400-86979000	Weak transcription	Ovary	ovary
48	chr2:86969400-86984400	Weak transcription	Fetal Heart	heart
49	chr2:86969400-86997800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr2:86969600-86972400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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