Variant report

Variant	nsv877103
Chromosome Location	chr3:85639455-85702868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:85691376..85694166-chr3:85695879..85697418,2	K562	blood:
2	chr16:62102334..62103232-chr3:85670335..85671139,2	MCF-7	breast:
3	chr3:85657188..85659401-chr3:85663146..85665310,2	MCF-7	breast:
4	chr3:85691376..85694166-chr3:85695879..85697418,2	K562	blood:
5	chr3:85689296..85692115-chr3:85697978..85700192,2	K562	blood:
6	chr3:85657188..85659401-chr3:85663146..85665310,2	MCF-7	breast:
7	chr3:85689296..85692115-chr3:85697978..85700192,2	K562	blood:

Extended variants
information (count: 1266 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1266 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6794759	chr3:85639455-85639456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552798845	chr3:85639546-85639547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6794866	chr3:85639548-85639549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs547091894	chr3:85639568-85639569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565931397	chr3:85639569-85639570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539685295	chr3:85639575-85639576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184392397	chr3:85639582-85639583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570352617	chr3:85639592-85639593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6782190	chr3:85639672-85639673	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs147945926	chr3:85639709-85639710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368019031	chr3:85639737-85639738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141752189	chr3:85639743-85639744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577898087	chr3:85639760-85639761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556342351	chr3:85639794-85639795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147100140	chr3:85639797-85639798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553548666	chr3:85639800-85639801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572256215	chr3:85639840-85639841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371710607	chr3:85639842-85639843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530892720	chr3:85639855-85639856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564148877	chr3:85639905-85639906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144075169	chr3:85640077-85640078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369014971	chr3:85640086-85640087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201539256	chr3:85640088-85640089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563877623	chr3:85640111-85640112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs67955391	chr3:85640136-85640137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs543362212	chr3:85640264-85640265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550775902	chr3:85640282-85640283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549415413	chr3:85640346-85640347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561677421	chr3:85640357-85640358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188780443	chr3:85640369-85640370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547079870	chr3:85640377-85640378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181887799	chr3:85640402-85640403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187370752	chr3:85640416-85640417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs68001049	chr3:85640418-85640419	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs528644265	chr3:85640471-85640472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572376371	chr3:85640485-85640486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189328123	chr3:85640510-85640511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76940567	chr3:85640548-85640549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111873105	chr3:85640568-85640569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs62793760	chr3:85640569-85640570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372385054	chr3:85640570-85640571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs398071879	chr3:85640571-85640572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555835181	chr3:85640647-85640648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs180823925	chr3:85640649-85640650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535055888	chr3:85640653-85640654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553485351	chr3:85640657-85640658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73843681	chr3:85640658-85640659	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs539151898	chr3:85640697-85640698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557894833	chr3:85640721-85640722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs151086787	chr3:85640726-85640727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85634400-85640800	Weak transcription	Brain Anterior Caudate	brain
2	chr3:85638400-85640200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:85638400-85642800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:85639200-85643200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr3:85640200-85641000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:85640600-85640800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:85640600-85641000	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr3:85640800-85641000	Enhancers	Brain Anterior Caudate	brain
9	chr3:85641000-85641400	Weak transcription	Brain Anterior Caudate	brain
10	chr3:85641000-85643800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:85641400-85641600	Enhancers	Brain Anterior Caudate	brain
12	chr3:85641600-85643600	Weak transcription	Brain Anterior Caudate	brain
13	chr3:85642800-85643200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:85643200-85644600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:85643600-85643800	Enhancers	Brain Anterior Caudate	brain
16	chr3:85643600-85644000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:85643800-85644000	Enhancers	Fetal Brain Male	brain
18	chr3:85643800-85644200	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr3:85643800-85644400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr3:85643800-85644400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:85643800-85644600	Enhancers	Brain Hippocampus Middle	brain
22	chr3:85643800-85644600	Enhancers	Hela-S3	cervix
23	chr3:85644000-85644600	Enhancers	Brain Cingulate Gyrus	brain
24	chr3:85644000-85652200	Weak transcription	Fetal Brain Male	brain
25	chr3:85648400-85648800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr3:85651200-85651400	Enhancers	Brain Anterior Caudate	brain
27	chr3:85651400-85653000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:85651400-85653400	Weak transcription	Brain Anterior Caudate	brain
29	chr3:85651800-85652000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
30	chr3:85652000-85652400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr3:85652000-85652600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:85652000-85652800	Enhancers	Brain Substantia Nigra	brain
33	chr3:85652000-85653000	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr3:85652200-85652400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
35	chr3:85652200-85652400	Enhancers	Fetal Brain Male	brain
36	chr3:85652200-85652600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr3:85652200-85652800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:85652400-85652600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr3:85652800-85654000	Weak transcription	Brain Substantia Nigra	brain
40	chr3:85653000-85653400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:85653400-85654000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:85653400-85654000	Enhancers	Brain Anterior Caudate	brain
43	chr3:85654000-85654200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:85654000-85654200	Enhancers	Brain Substantia Nigra	brain
45	chr3:85654200-85654600	Weak transcription	Brain Substantia Nigra	brain
46	chr3:85654600-85655000	Enhancers	Brain Substantia Nigra	brain
47	chr3:85657800-85658000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr3:85666200-85666600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:85671200-85671400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:85671600-85672200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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