Variant report

Variant	nsv963492
Chromosome Location	chr3:156822431-156829339
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:156816993..156818537-chr3:156821537..156823684,2	K562	blood:
2	chr3:156810131..156811992-chr3:156822075..156824896,2	MCF-7	breast:
3	chr3:156807605..156809199-chr3:156827246..156830042,2	K562	blood:
4	chr3:156805364..156807403-chr3:156827263..156830005,3	K562	blood:
5	chr3:156814290..156816114-chr3:156822905..156825348,2	K562	blood:
6	chr3:156799325..156801188-chr3:156826039..156828817,3	K562	blood:
7	chr3:156826801..156832803-chr3:156862347..156866322,5	K562	blood:
8	chr3:156817717..156819504-chr3:156822917..156824835,2	MCF-7	breast:
9	chr3:156813189..156821079-chr3:156821537..156824673,9	K562	blood:
10	chr3:156824335..156826980-chr3:156889845..156891844,2	K562	blood:
11	chr3:156393308..156395155-chr3:156824794..156827365,2	K562	blood:
12	chr3:156820330..156823175-chr3:156828764..156831277,2	K562	blood:
13	chr3:156822578..156824586-chr3:156833143..156834899,2	K562	blood:
14	chr3:156820330..156823175-chr3:156828764..156831277,2	K562	blood:
15	chr3:156825505..156827069-chr3:156837725..156839801,2	K562	blood:
16	chr3:156820447..156822637-chr3:156825725..156827377,2	K562	blood:
17	chr3:156805423..156808063-chr3:156820673..156822516,2	MCF-7	breast:
18	chr3:156393308..156394867-chr3:156824794..156827171,2	K562	blood:
19	chr3:156807801..156810830-chr3:156820273..156823963,3	K562	blood:
20	chr3:156392229..156393793-chr3:156828346..156831162,2	K562	blood:
21	chr3:156814840..156817807-chr3:156824843..156827146,2	K562	blood:
22	chr3:156818057..156820688-chr3:156823276..156825045,2	MCF-7	breast:
23	chr3:156813972..156815695-chr3:156823705..156826230,2	MCF-7	breast:
24	chr3:156829037..156830772-chr3:156842709..156844752,2	K562	blood:
25	chr3:156819177..156820973-chr3:156821393..156823022,2	MCF-7	breast:
26	chr3:156804281..156807670-chr3:156825990..156830438,8	K562	blood:
27	chr3:156820447..156822637-chr3:156825725..156827377,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163659	chromatin interactions
ENSG00000241135	chromatin interactions
ENSG00000222675	chromatin interactions
ENSG00000241544	chromatin interactions

Extended variants
information (count: 296 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs36082571	chr3:156822466-156822467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs573170659	chr3:156822480-156822481	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs75265022	chr3:156822493-156822494	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555796422	chr3:156822499-156822500	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs569989584	chr3:156822502-156822503	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs11928575	chr3:156822506-156822507	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs544356283	chr3:156822565-156822566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562743576	chr3:156822598-156822599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370085407	chr3:156822669-156822670	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs191105718	chr3:156822672-156822673	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs555798183	chr3:156822680-156822681	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs368360441	chr3:156822795-156822796	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs545283405	chr3:156822824-156822825	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs75196513	chr3:156822891-156822892	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs527249847	chr3:156822998-156822999	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs548715812	chr3:156823009-156823010	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs78654526	chr3:156823026-156823027	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs142667581	chr3:156823105-156823106	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs376727307	chr3:156823157-156823158	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs549949298	chr3:156823162-156823163	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs571456706	chr3:156823197-156823198	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs13080377	chr3:156823204-156823205	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs547641933	chr3:156823213-156823214	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs565852751	chr3:156823217-156823218	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs79629116	chr3:156823255-156823256	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs183691408	chr3:156823256-156823257	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs567702317	chr3:156823280-156823281	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs545291737	chr3:156823282-156823283	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs189186792	chr3:156823356-156823357	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs191485808	chr3:156823357-156823358	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs577796665	chr3:156823363-156823364	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs529389909	chr3:156823374-156823375	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs576129230	chr3:156823404-156823405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545216217	chr3:156823423-156823424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554409506	chr3:156823466-156823467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376639429	chr3:156823577-156823578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369077982	chr3:156823618-156823619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560717770	chr3:156823623-156823624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77421548	chr3:156823651-156823652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373867999	chr3:156823689-156823690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530482831	chr3:156823719-156823720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76447570	chr3:156823742-156823743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138659453	chr3:156823768-156823769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532313316	chr3:156823784-156823785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375991072	chr3:156823838-156823839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183047112	chr3:156823839-156823840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565920196	chr3:156823892-156823893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561008221	chr3:156823908-156823909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529945286	chr3:156823947-156823948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548507485	chr3:156823969-156823970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Esophageal squamous carcinoma	17470683	CNVD
Cancer	17440070	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21611746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156810600-156832000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:156811000-156823000	Weak transcription	Spleen	Spleen
3	chr3:156813200-156838000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:156817800-156825600	Weak transcription	Colonic Mucosa	Colon
5	chr3:156817800-156828600	Weak transcription	Pancreas	Pancrea
6	chr3:156818600-156828800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr3:156819000-156825400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr3:156819200-156827600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:156819600-156846400	Weak transcription	Fetal Kidney	kidney
10	chr3:156820800-156824000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr3:156820800-156824200	Enhancers	Primary B cells from peripheral blood	blood
12	chr3:156821000-156823000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:156821000-156823000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:156821000-156823000	Enhancers	K562	blood
15	chr3:156821000-156823200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:156821000-156823200	Enhancers	Ovary	ovary
17	chr3:156821000-156823400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr3:156821000-156823400	Enhancers	Left Ventricle	heart
19	chr3:156821000-156823600	Enhancers	HepG2	liver
20	chr3:156821000-156823800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr3:156821000-156823800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr3:156821000-156826000	Enhancers	Fetal Heart	heart
23	chr3:156821200-156822600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr3:156821200-156822600	Enhancers	HSMMtube	muscle
25	chr3:156821200-156822800	Enhancers	NHDF-Ad	bronchial
26	chr3:156821200-156823000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:156821200-156823000	Enhancers	Duodenum Mucosa	Duodenum
28	chr3:156821200-156823200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr3:156821200-156823600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:156821200-156823600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr3:156821400-156822800	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr3:156821400-156823000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:156821400-156823000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr3:156821400-156823000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:156821400-156823200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:156821400-156823400	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr3:156821400-156823800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr3:156821600-156823000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:156821600-156823400	Enhancers	Rectal Smooth Muscle	rectum
40	chr3:156821600-156824000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:156821600-156828600	Weak transcription	Brain Angular Gyrus	brain
42	chr3:156821600-156828600	Weak transcription	Brain Anterior Caudate	brain
43	chr3:156821800-156822800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr3:156821800-156823000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr3:156821800-156823000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr3:156821800-156823000	Enhancers	NHEK	skin
47	chr3:156821800-156823200	Enhancers	HMEC	breast
48	chr3:156821800-156823600	Enhancers	Right Ventricle	heart
49	chr3:156821800-156824000	Enhancers	Fetal Stomach	stomach
50	chr3:156821800-156824000	Enhancers	Fetal Thymus	thymus

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