Variant report

Variant	nsv963284
Chromosome Location	chr3:157209628-157210772
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	CHD2	chr3:157209900-157209996	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr3:157210603-157213396	SK-N-SH	brain:	n/a	chr3:157211607-157211626 chr3:157211617-157211624

No.	Distal block	Cell Line	Cell type
1	chr3:157206521..157208283-chr3:157210267..157212147,2	K562	blood:
2	chr3:157191374..157193760-chr3:157210330..157212227,2	K562	blood:
3	chr3:157205290..157208283-chr3:157209694..157212147,2	K562	blood:
4	chr3:157001018..157003742-chr3:157209899..157211507,2	K562	blood:
5	chr3:156877680..156879425-chr3:157209675..157211718,2	MCF-7	breast:

Variant related genes	Relation type
VEPH1	TF binding region
ENSG00000163660	chromatin interactions
ENSG00000197415	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564267848	chr3:157209633-157209634	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142955749	chr3:157209682-157209683	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs546837561	chr3:157209689-157209690	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs180763581	chr3:157209694-157209695	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs146136139	chr3:157209716-157209717	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs530197916	chr3:157209721-157209722	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs548735226	chr3:157209741-157209742	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs4680372	chr3:157209768-157209769	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs538982829	chr3:157209783-157209784	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs140053616	chr3:157209825-157209826	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs552742844	chr3:157209847-157209848	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs571015414	chr3:157209853-157209854	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs4680373	chr3:157209880-157209881	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs7641247	chr3:157209947-157209948	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs149798891	chr3:157209948-157209949	Weak transcription ZNF genes & repeats Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs115976253	chr3:157210049-157210050	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs556818593	chr3:157210054-157210055	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs376586147	chr3:157210066-157210067	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs575391388	chr3:157210076-157210077	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs545641170	chr3:157210092-157210093	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs557950389	chr3:157210098-157210099	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs573149009	chr3:157210105-157210106	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs79475197	chr3:157210119-157210120	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs145693305	chr3:157210157-157210158	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs535876157	chr3:157210210-157210211	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs148511584	chr3:157210243-157210244	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs542341927	chr3:157210249-157210250	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs531210662	chr3:157210255-157210256	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs563586434	chr3:157210277-157210278	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs531042092	chr3:157210279-157210280	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs552459833	chr3:157210293-157210294	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs186200067	chr3:157210319-157210320	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs528737824	chr3:157210320-157210321	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs546921195	chr3:157210338-157210339	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs190328568	chr3:157210350-157210351	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs567705333	chr3:157210385-157210386	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs73158539	chr3:157210398-157210399	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs550552269	chr3:157210473-157210474	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs568826921	chr3:157210483-157210484	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs373424245	chr3:157210498-157210499	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs539543805	chr3:157210540-157210541	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs562967251	chr3:157210582-157210583	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs182568774	chr3:157210585-157210586	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs973207	chr3:157210703-157210704	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs540319505	chr3:157210730-157210731	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs368710989	chr3:157210737-157210738	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs555746547	chr3:157210759-157210760	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17142309	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157185600-157211400	Weak transcription	HSMM	muscle
2	chr3:157187600-157210600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr3:157194000-157212000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:157194400-157210200	Weak transcription	NH-A	brain
5	chr3:157194600-157217000	Weak transcription	Pancreas	Pancrea
6	chr3:157194800-157212000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:157198800-157210400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:157199000-157211600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:157206200-157211200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:157206200-157211200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:157206600-157211800	Weak transcription	NHLF	lung
12	chr3:157206800-157211200	Weak transcription	NHDF-Ad	bronchial
13	chr3:157207000-157211400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:157207200-157211400	Weak transcription	Fetal Kidney	kidney
15	chr3:157207400-157211000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:157208600-157210600	Strong transcription	Osteobl	bone
17	chr3:157209000-157211000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:157209000-157211400	Strong transcription	HUVEC	blood vessel
19	chr3:157209400-157209800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:157209400-157210200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:157209800-157210000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:157210000-157212400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:157210200-157210400	Strong transcription	NH-A	brain
24	chr3:157210200-157210600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr3:157210200-157210600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr3:157210200-157210800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr3:157210200-157214000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:157210400-157211000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:157210400-157211000	Weak transcription	NH-A	brain
30	chr3:157210400-157212800	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr3:157210600-157211000	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr3:157210600-157211200	Weak transcription	Osteobl	bone
33	chr3:157210600-157214000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr3:157210600-157217000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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