Variant report

Variant	nsv877097
Chromosome Location	chr3:85177173-85290434
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:33567272..33568194-chr3:85240415..85241255,2	MCF-7	breast:
2	chr3:85209393..85211289-chr3:85214657..85216931,2	K562	blood:
3	chr3:85209393..85211289-chr3:85214657..85216931,2	K562	blood:
4	chr2:75010074..75010799-chr3:85210133..85210807,2	MCF-7	breast:
5	chr3:85277464..85279349-chr3:85282954..85285645,2	MCF-7	breast:
6	chr3:85243785..85244488-chr6:122933006..122933585,2	MCF-7	breast:
7	chr3:85277464..85279349-chr3:85282954..85285645,2	MCF-7	breast:

Extended variants
information (count: 2739 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:2739 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2326225	chr3:85177173-85177174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs9878043	chr3:85177191-85177192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532932041	chr3:85177192-85177193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139617054	chr3:85177226-85177227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72907106	chr3:85177227-85177228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs569565920	chr3:85177255-85177256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544749058	chr3:85177325-85177326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375740328	chr3:85177328-85177329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146287426	chr3:85177381-85177382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552884088	chr3:85177388-85177389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536856626	chr3:85177398-85177399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548740433	chr3:85177400-85177401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574369952	chr3:85177412-85177413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541667833	chr3:85177509-85177510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563328228	chr3:85177517-85177518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369249240	chr3:85177527-85177528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138018210	chr3:85177550-85177551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555035337	chr3:85177562-85177563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78491180	chr3:85177660-85177661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553423286	chr3:85177665-85177666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190250477	chr3:85177667-85177668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538979029	chr3:85177687-85177688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557381039	chr3:85177705-85177706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142520140	chr3:85177729-85177730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77397145	chr3:85177736-85177737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs80097549	chr3:85177741-85177742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573456541	chr3:85177752-85177753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560047483	chr3:85177762-85177763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540808986	chr3:85177798-85177799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559395767	chr3:85177802-85177803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532793408	chr3:85177824-85177825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551315409	chr3:85177876-85177877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563265184	chr3:85177878-85177879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72907107	chr3:85177953-85177954	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs548851695	chr3:85177965-85177966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372306930	chr3:85178021-85178022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567165044	chr3:85178024-85178025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78098400	chr3:85178079-85178080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113808796	chr3:85178121-85178122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146001565	chr3:85178160-85178161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139286989	chr3:85178164-85178165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192473277	chr3:85178188-85178189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557292959	chr3:85178192-85178193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116303233	chr3:85178250-85178251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536978967	chr3:85178274-85178275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62250630	chr3:85178282-85178283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560138785	chr3:85178295-85178296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573523803	chr3:85178305-85178306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112832568	chr3:85178329-85178330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552802635	chr3:85178374-85178375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Breast cancer	21858162	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
Autism	22102821	CNVD
Prostate cancer	21307934	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85168400-85177600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:85169200-85198600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr3:85189600-85190000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:85189800-85190600	Enhancers	Fetal Lung	lung
5	chr3:85191200-85191400	Enhancers	Brain Anterior Caudate	brain
6	chr3:85191400-85197200	Weak transcription	Brain Anterior Caudate	brain
7	chr3:85193000-85193400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr3:85193200-85193400	Enhancers	Brain Substantia Nigra	brain
9	chr3:85193400-85197200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr3:85193400-85197200	Weak transcription	Brain Substantia Nigra	brain
11	chr3:85195800-85196000	Enhancers	Brain Hippocampus Middle	brain
12	chr3:85196000-85197200	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:85197200-85197400	Enhancers	Brain Cingulate Gyrus	brain
14	chr3:85197200-85197400	Enhancers	Stomach Mucosa	stomach
15	chr3:85197200-85197600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:85197200-85197600	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr3:85197200-85197600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr3:85197200-85197800	Enhancers	Brain Angular Gyrus	brain
19	chr3:85197200-85198200	Enhancers	Brain Anterior Caudate	brain
20	chr3:85197200-85198200	Enhancers	Brain Hippocampus Middle	brain
21	chr3:85197200-85198200	Enhancers	Brain Substantia Nigra	brain
22	chr3:85197400-85197600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:85197400-85209600	Weak transcription	Stomach Mucosa	stomach
24	chr3:85197800-85199000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:85198200-85200200	Weak transcription	Brain Substantia Nigra	brain
26	chr3:85198600-85198800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr3:85198800-85199200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr3:85199000-85199400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:85199200-85199400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr3:85199400-85201400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr3:85199400-85201400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr3:85199400-85213400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:85200200-85200400	Enhancers	Brain Substantia Nigra	brain
34	chr3:85201400-85201600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
35	chr3:85201400-85202600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
36	chr3:85208400-85208600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:85208400-85208800	Enhancers	HMEC	breast
38	chr3:85208400-85209200	Enhancers	Fetal Intestine Small	intestine
39	chr3:85208600-85208800	Enhancers	A549	lung
40	chr3:85208600-85210200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:85208800-85210000	Weak transcription	HMEC	breast
42	chr3:85208800-85210400	Weak transcription	A549	lung
43	chr3:85209200-85210400	Weak transcription	Fetal Intestine Small	intestine
44	chr3:85209600-85209800	Enhancers	Stomach Mucosa	stomach
45	chr3:85209800-85210200	Weak transcription	Stomach Mucosa	stomach
46	chr3:85210000-85213800	Enhancers	HMEC	breast
47	chr3:85210000-85214000	Enhancers	NHEK	skin
48	chr3:85210200-85211200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr3:85210200-85211400	Enhancers	Stomach Mucosa	stomach
50	chr3:85210400-85210600	Flanking Active TSS	A549	lung

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