Variant report

Variant	nsv876601
Chromosome Location	chr3:20441187-20493568
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:20451777..20453884-chr3:20476566..20478123,2	K562	blood:
2	chr3:20436330..20438604-chr3:20439437..20442062,2	MCF-7	breast:
3	chr3:20451777..20453884-chr3:20476566..20478123,2	K562	blood:
4	chr3:20447764..20450202-chr3:20450641..20452829,2	MCF-7	breast:
5	chr3:20460438..20462411-chr3:20516734..20518648,2	MCF-7	breast:
6	chr3:20447764..20450202-chr3:20450641..20452829,2	MCF-7	breast:

Extended variants
information (count: 834 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:834 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4858195	chr3:20441187-20441188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533793476	chr3:20441208-20441209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544729408	chr3:20441225-20441226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553737282	chr3:20441233-20441234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563635768	chr3:20441289-20441290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571909828	chr3:20441292-20441293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542963973	chr3:20441357-20441358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561193633	chr3:20441396-20441397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370827103	chr3:20441423-20441424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531620872	chr3:20441429-20441430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543682486	chr3:20441460-20441461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564883961	chr3:20441467-20441468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184196012	chr3:20441536-20441537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141172655	chr3:20441575-20441576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566088669	chr3:20441587-20441588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187508293	chr3:20441592-20441593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532859920	chr3:20441609-20441610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78979619	chr3:20441618-20441619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559938690	chr3:20441629-20441630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528663503	chr3:20441640-20441641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150297266	chr3:20441734-20441735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537348179	chr3:20441760-20441761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs137860468	chr3:20441781-20441782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570914977	chr3:20441794-20441795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566312860	chr3:20441816-20441817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34584550	chr3:20441904-20441905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4857946	chr3:20441973-20441974	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs149434556	chr3:20442000-20442001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572085195	chr3:20442004-20442005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542678020	chr3:20442016-20442017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554595787	chr3:20442032-20442033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74516038	chr3:20442059-20442060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377309401	chr3:20442160-20442161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535417268	chr3:20442185-20442186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562222208	chr3:20442202-20442203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113941563	chr3:20442208-20442209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192479949	chr3:20442267-20442268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532182218	chr3:20442308-20442309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569305501	chr3:20442519-20442520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541200898	chr3:20442533-20442534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs386659100	chr3:20442587-20442588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185794867	chr3:20442588-20442589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548227385	chr3:20442618-20442619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565892267	chr3:20442621-20442622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs56896248	chr3:20442629-20442630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs77870809	chr3:20442631-20442632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531117127	chr3:20442664-20442665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189100576	chr3:20442674-20442675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs180724933	chr3:20442702-20442703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6793121	chr3:20442705-20442706	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20436000-20448200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:20436200-20445200	Weak transcription	Fetal Intestine Small	intestine
3	chr3:20436200-20445800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:20436200-20453400	Weak transcription	Pancreas	Pancrea
5	chr3:20441400-20442000	Enhancers	Aorta	Aorta
6	chr3:20442200-20443200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:20442800-20443400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:20443200-20443400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:20443200-20446800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:20445200-20446200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:20445200-20446200	Enhancers	Small Intestine	intestine
12	chr3:20445200-20447200	Enhancers	Duodenum Mucosa	Duodenum
13	chr3:20445200-20449000	Enhancers	Fetal Intestine Large	intestine
14	chr3:20445200-20450000	Enhancers	Fetal Intestine Small	intestine
15	chr3:20445200-20450000	Enhancers	Fetal Stomach	stomach
16	chr3:20445400-20445600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:20445600-20445800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr3:20445600-20448800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:20445800-20446000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr3:20445800-20446000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:20445800-20448400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:20446000-20446800	Enhancers	Fetal Brain Male	brain
23	chr3:20446000-20447400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:20446200-20448200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr3:20446800-20448200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:20447000-20447400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:20447000-20448400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:20447000-20448400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:20447200-20447600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:20447200-20447800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr3:20447200-20448400	Enhancers	NH-A	brain
32	chr3:20447200-20448400	Enhancers	NHDF-Ad	bronchial
33	chr3:20447400-20447800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr3:20447400-20448400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:20447800-20448400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:20448000-20448800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr3:20448000-20448800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr3:20448200-20448800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr3:20448200-20448800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr3:20448200-20448800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr3:20448200-20448800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr3:20448200-20448800	Enhancers	Fetal Muscle Leg	muscle
43	chr3:20448200-20449000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr3:20448200-20449800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:20448400-20448600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr3:20448400-20448800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr3:20448400-20449000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:20449000-20450600	Weak transcription	Fetal Intestine Large	intestine
49	chr3:20449000-20451000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:20449800-20450400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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