Variant report

Variant	nsv967206
Chromosome Location	chr3:158149860-158176292
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:158168004..158169712-chr3:158171871..158174520,2	K562	blood:
2	chr3:157809115..157809977-chr3:158151874..158152457,2	K562	blood:
3	chr3:158168004..158169712-chr3:158171871..158174520,2	K562	blood:
4	chr3:158151947..158152666-chr3:158249618..158250586,2	MCF-7	breast:
5	chr15:72523089..72524657-chr3:158169373..158172267,2	MCF-7	breast:
6	chr3:158165380..158167229-chr3:158167720..158170600,2	MCF-7	breast:
7	chr3:157582834..157583782-chr3:158151875..158152396,2	K562	blood:
8	chr3:157809105..157810341-chr3:158151834..158152745,6	MCF-7	breast:
9	chr3:158165380..158167229-chr3:158167720..158170600,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000067225	chromatin interactions

Extended variants
information (count: 946 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:946 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544695022	chr3:158149861-158149862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191683947	chr3:158149867-158149868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142681698	chr3:158149887-158149888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563571692	chr3:158149895-158149896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201650302	chr3:158149907-158149908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569685041	chr3:158149968-158149969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537362303	chr3:158149990-158149991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73028779	chr3:158149996-158149997	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs183356465	chr3:158150012-158150013	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs147353118	chr3:158150083-158150084	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs535267825	chr3:158150167-158150168	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs553281193	chr3:158150209-158150210	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs73877207	chr3:158150236-158150237	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs535521355	chr3:158150271-158150272	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs140181525	chr3:158150298-158150299	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs575279592	chr3:158150306-158150307	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs116567282	chr3:158150349-158150350	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs564361184	chr3:158150396-158150397	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs187265562	chr3:158150408-158150409	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191777447	chr3:158150419-158150420	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183949705	chr3:158150431-158150432	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115890218	chr3:158150474-158150475	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553154720	chr3:158150488-158150489	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530153681	chr3:158150502-158150503	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144147423	chr3:158150506-158150507	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561057023	chr3:158150553-158150554	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150661717	chr3:158150572-158150573	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186640553	chr3:158150588-158150589	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139919915	chr3:158150608-158150609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73877209	chr3:158150615-158150616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs193103490	chr3:158150633-158150634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547200492	chr3:158150649-158150650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149829780	chr3:158150668-158150669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147816856	chr3:158150680-158150681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547887164	chr3:158150721-158150722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7610691	chr3:158150843-158150844	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs77733161	chr3:158150865-158150866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568876080	chr3:158150900-158150901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77298999	chr3:158150917-158150918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201295151	chr3:158150946-158150947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145747794	chr3:158150949-158150950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139627353	chr3:158150971-158150972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535099695	chr3:158150999-158151000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185575224	chr3:158151002-158151003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144179602	chr3:158151003-158151004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541922420	chr3:158151042-158151043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75311161	chr3:158151067-158151068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530901513	chr3:158151137-158151138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546212560	chr3:158151233-158151234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559518731	chr3:158151263-158151264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158145600-158164600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:158148600-158150000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:158149000-158150800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:158149600-158150000	Enhancers	Brain Hippocampus Middle	brain
5	chr3:158149800-158150200	Enhancers	Fetal Intestine Large	intestine
6	chr3:158149800-158150400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:158149800-158150400	Enhancers	Liver	Liver
8	chr3:158149800-158150400	Enhancers	Fetal Intestine Small	intestine
9	chr3:158149800-158150600	Enhancers	A549	lung
10	chr3:158149800-158150600	Enhancers	HepG2	liver
11	chr3:158150000-158150200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:158150200-158150600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:158150600-158150800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:158150600-158151000	Weak transcription	A549	lung
15	chr3:158150800-158151200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:158150800-158151400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:158151000-158151400	Enhancers	A549	lung
18	chr3:158152000-158152200	Enhancers	Liver	Liver
19	chr3:158156400-158176200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:158159600-158163200	Weak transcription	Left Ventricle	heart
21	chr3:158161000-158161800	Enhancers	GM12878-XiMat	blood
22	chr3:158161400-158161800	Enhancers	Colonic Mucosa	Colon
23	chr3:158161800-158171800	Weak transcription	GM12878-XiMat	blood
24	chr3:158164600-158165000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:158164600-158165600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:158164800-158165600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:158165600-158169600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:158165600-158172600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:158169200-158169600	Enhancers	Primary B cells from cord blood	blood
30	chr3:158169200-158176000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:158169400-158170000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr3:158169400-158170000	Enhancers	HepG2	liver
33	chr3:158169400-158171400	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr3:158169600-158171200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:158169600-158182400	Weak transcription	Primary B cells from cord blood	blood
36	chr3:158170400-158170600	Enhancers	NHLF	lung
37	chr3:158171400-158177800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr3:158171800-158172000	Enhancers	GM12878-XiMat	blood
39	chr3:158172400-158173400	Enhancers	NHDF-Ad	bronchial
40	chr3:158172600-158172800	Enhancers	Gastric	stomach
41	chr3:158172600-158172800	Enhancers	Pancreas	Pancrea
42	chr3:158172600-158173200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:158173200-158178200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:158173400-158174200	Enhancers	HSMM	muscle
45	chr3:158175800-158176400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr3:158176000-158176400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:158176200-158176600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:158176200-158176600	Enhancers	HMEC	breast
49	chr3:158176200-158176600	Enhancers	NHEK	skin

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