Variant report

Variant	nsv876602
Chromosome Location	chr3:20443549-20493568
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 746 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:746 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9830371	chr3:20443549-20443550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545917136	chr3:20443617-20443618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564502165	chr3:20443622-20443623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528784336	chr3:20443628-20443629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182044151	chr3:20443756-20443757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547237701	chr3:20443766-20443767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529783912	chr3:20443767-20443768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529541377	chr3:20443852-20443853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549454506	chr3:20443925-20443926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111608337	chr3:20443960-20443961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527500764	chr3:20443965-20443966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187245214	chr3:20443986-20443987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192038893	chr3:20444057-20444058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551891273	chr3:20444067-20444068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570389551	chr3:20444083-20444084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547222464	chr3:20444085-20444086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534626016	chr3:20444114-20444115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75647307	chr3:20444134-20444135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182619524	chr3:20444140-20444141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186685302	chr3:20444146-20444147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79305027	chr3:20444174-20444175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114362246	chr3:20444176-20444177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575696680	chr3:20444224-20444225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79471787	chr3:20444456-20444457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28446398	chr3:20444471-20444472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs190063179	chr3:20444496-20444497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540608929	chr3:20444509-20444510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534880317	chr3:20444517-20444518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182699971	chr3:20444525-20444526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369005774	chr3:20444563-20444564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372875021	chr3:20444575-20444576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9835656	chr3:20444590-20444591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs139236289	chr3:20444595-20444596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563021997	chr3:20444646-20444647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112420473	chr3:20444651-20444652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552219075	chr3:20444674-20444675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570378476	chr3:20444686-20444687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528119433	chr3:20444721-20444722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577338990	chr3:20444792-20444793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546174655	chr3:20444805-20444806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568055294	chr3:20444806-20444807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535360162	chr3:20444842-20444843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574993889	chr3:20444853-20444854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200442480	chr3:20444854-20444855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59676970	chr3:20444865-20444866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544407101	chr3:20444894-20444895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs386659101	chr3:20444899-20444900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556741540	chr3:20444900-20444901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568992921	chr3:20444901-20444902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539571048	chr3:20445012-20445013	Weak transcription	n/a	n/a	Overlapped CNVs	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:63 , 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	chr3:20443200-20446800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:20445200-20446200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:20445200-20446200	Enhancers	Small Intestine	intestine
8	chr3:20445200-20447200	Enhancers	Duodenum Mucosa	Duodenum
9	chr3:20445200-20449000	Enhancers	Fetal Intestine Large	intestine
10	chr3:20445200-20450000	Enhancers	Fetal Intestine Small	intestine
11	chr3:20445200-20450000	Enhancers	Fetal Stomach	stomach
12	chr3:20445400-20445600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:20445600-20445800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr3:20445600-20448800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:20445800-20446000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr3:20445800-20446000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:20445800-20448400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:20446000-20446800	Enhancers	Fetal Brain Male	brain
19	chr3:20446000-20447400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:20446200-20448200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr3:20446800-20448200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:20447000-20447400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:20447000-20448400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:20447000-20448400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:20447200-20447600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:20447200-20447800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr3:20447200-20448400	Enhancers	NH-A	brain
28	chr3:20447200-20448400	Enhancers	NHDF-Ad	bronchial
29	chr3:20447400-20447800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:20447400-20448400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:20447800-20448400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr3:20448000-20448800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr3:20448000-20448800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr3:20448200-20448800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr3:20448200-20448800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr3:20448200-20448800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr3:20448200-20448800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr3:20448200-20448800	Enhancers	Fetal Muscle Leg	muscle
39	chr3:20448200-20449000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr3:20448200-20449800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:20448400-20448600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr3:20448400-20448800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr3:20448400-20449000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:20449000-20450600	Weak transcription	Fetal Intestine Large	intestine
45	chr3:20449000-20451000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:20449800-20450400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:20450000-20451000	Weak transcription	Fetal Intestine Small	intestine
48	chr3:20450000-20451000	Weak transcription	Fetal Stomach	stomach
49	chr3:20450600-20451200	Enhancers	Fetal Intestine Large	intestine
50	chr3:20451000-20451200	Enhancers	Fetal Stomach	stomach

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