Variant report

Variant	nsv997546
Chromosome Location	chr3:161866223-161955660
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:34833062..34833562-chr3:161876754..161877328,2	MCF-7	breast:
2	chr3:161947338..161948971-chr3:161949500..161951526,2	MCF-7	breast:
3	chr3:161880353..161883134-chr3:161894070..161896334,2	K562	blood:
4	chr3:161912205..161913851-chr3:161915372..161917962,2	K562	blood:
5	chr3:161947338..161948971-chr3:161949500..161951526,2	MCF-7	breast:
6	chr3:161913261..161915799-chr3:161918135..161919894,2	K562	blood:
7	chr3:161880353..161883134-chr3:161894070..161896334,2	K562	blood:
8	chr3:161912205..161913851-chr3:161915372..161917962,2	K562	blood:
9	chr3:161913261..161915799-chr3:161918135..161919894,2	K562	blood:
10	chr18:46065653..46068289-chr3:161888180..161889783,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134030	chromatin interactions

Extended variants
information (count: 1776 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1776 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9842248	chr3:161866223-161866224	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527963275	chr3:161866229-161866230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13096521	chr3:161866241-161866242	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs569665377	chr3:161866260-161866261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75230547	chr3:161866279-161866280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573328807	chr3:161866305-161866306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549053486	chr3:161866326-161866327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568818557	chr3:161866340-161866341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs59835533	chr3:161866344-161866345	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs145718429	chr3:161866356-161866357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577530036	chr3:161866376-161866377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558684592	chr3:161866452-161866453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533819173	chr3:161866519-161866520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553575189	chr3:161866547-161866548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115947430	chr3:161866566-161866567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542756004	chr3:161866606-161866607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541470018	chr3:161866612-161866613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138388188	chr3:161866679-161866680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545409142	chr3:161866711-161866712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565100636	chr3:161866731-161866732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7648209	chr3:161866740-161866741	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs541723571	chr3:161866741-161866742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561513781	chr3:161866759-161866760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544425700	chr3:161866882-161866883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111688583	chr3:161866918-161866919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562639848	chr3:161866952-161866953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544921979	chr3:161869850-161869851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188785989	chr3:161869852-161869853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189813962	chr3:161869890-161869891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149784083	chr3:161869895-161869896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182479058	chr3:161869899-161869900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535656827	chr3:161869901-161869902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115946809	chr3:161869917-161869918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574481792	chr3:161870058-161870059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73878554	chr3:161870137-161870138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187088093	chr3:161870176-161870177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576895635	chr3:161870181-161870182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545441130	chr3:161870225-161870226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191893539	chr3:161870232-161870233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144720857	chr3:161870234-161870235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34267733	chr3:161870302-161870303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs398062978	chr3:161870313-161870314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs397711682	chr3:161870314-161870315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528364421	chr3:161870325-161870326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372017953	chr3:161870362-161870363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575021317	chr3:161870399-161870400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557739389	chr3:161870425-161870426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148538491	chr3:161870438-161870439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184846651	chr3:161870441-161870442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530939309	chr3:161870485-161870486	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161865600-161867000	Enhancers	Dnd41	blood
2	chr3:161869800-161871400	Enhancers	Fetal Intestine Large	intestine
3	chr3:161870400-161870800	Enhancers	Fetal Intestine Small	intestine
4	chr3:161874000-161874400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:161882400-161884200	Enhancers	Dnd41	blood
6	chr3:161882400-161884600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:161882800-161884600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr3:161883200-161883400	Active TSS	Osteobl	bone
9	chr3:161883200-161883600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:161883400-161883800	Enhancers	Brain Cingulate Gyrus	brain
11	chr3:161883400-161883800	Flanking Active TSS	Osteobl	bone
12	chr3:161883400-161884600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:161883600-161883800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:161883600-161884000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:161883600-161884000	Enhancers	NHDF-Ad	bronchial
16	chr3:161883600-161884200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:161883600-161884200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:161883600-161884200	Enhancers	NHLF	lung
19	chr3:161883800-161884200	Enhancers	A549	lung
20	chr3:161883800-161884400	Enhancers	Osteobl	bone
21	chr3:161883800-161884600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:161884200-161885000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:161884600-161885600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:161884600-161886400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:161884600-161888400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr3:161885000-161885200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:161885600-161886400	Enhancers	Adipose Nuclei	Adipose
28	chr3:161885600-161886800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:161886400-161886800	Weak transcription	Adipose Nuclei	Adipose
30	chr3:161886400-161887000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:161886800-161887200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:161886800-161887800	Enhancers	Adipose Nuclei	Adipose
33	chr3:161887000-161888000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:161887200-161888200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:161887800-161888800	Enhancers	NH-A	brain
36	chr3:161888000-161888200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:161888200-161889800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:161888400-161888800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr3:161889800-161890000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:161893000-161894000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:161893800-161894600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr3:161894600-161895000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:161910200-161910400	Enhancers	Psoas Muscle	Psoas
44	chr3:161910400-161911600	Enhancers	Fetal Heart	heart
45	chr3:161910600-161911000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr3:161910800-161911400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr3:161911000-161911800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:161911000-161912400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr3:161911000-161919000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr3:161911600-161913400	Weak transcription	Fetal Heart	heart

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