Variant report

Variant	nsv870153
Chromosome Location	chr3:85326695-85426936
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:85353291..85354669-chr3:85409554..85410988,3	K562	blood:
2	chr3:85353413..85354226-chr3:85409666..85410591,2	MCF-7	breast:
3	chr3:85023240..85023756-chr3:85409642..85410352,2	MCF-7	breast:
4	chr3:85353354..85354461-chr3:85391496..85392792,4	MCF-7	breast:
5	chr3:85401815..85404016-chr3:85405205..85407101,2	K562	blood:
6	chr3:84597130..84597691-chr3:85409635..85410581,3	MCF-7	breast:
7	chr3:85401815..85404016-chr3:85405205..85407101,2	K562	blood:
8	chr3:85353354..85354461-chr3:85391496..85392792,4	MCF-7	breast:
9	chr3:85425596..85428443-chr3:85428590..85430282,2	K562	blood:
10	chr3:85364029..85366181-chr3:85371658..85373734,2	K562	blood:
11	chr3:85364029..85366181-chr3:85371658..85373734,2	K562	blood:
12	chr3:85353497..85354172-chr3:85624891..85625399,2	MCF-7	breast:
13	chr3:85353254..85353869-chr3:85625261..85626043,2	MCF-7	breast:
14	chr3:85409636..85410536-chr3:85624933..85625875,2	MCF-7	breast:
15	chr3:84992684..84993232-chr3:85391799..85392321,2	MCF-7	breast:
16	chr3:85353413..85354226-chr3:85409666..85410591,2	MCF-7	breast:
17	chr3:85353629..85354290-chr3:85624959..85625479,2	K562	blood:
18	chr3:85353291..85354669-chr3:85409554..85410988,3	K562	blood:

No data

Extended variants
information (count: 2587 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:2587 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147219987	chr3:85335331-85335332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571750751	chr3:85335346-85335347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183744323	chr3:85335511-85335512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557445372	chr3:85335517-85335518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12374196	chr3:85335526-85335527	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs140464270	chr3:85335553-85335554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188973868	chr3:85335614-85335615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573540864	chr3:85335628-85335629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540970723	chr3:85335634-85335635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192460098	chr3:85335658-85335659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577780785	chr3:85335683-85335684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144427573	chr3:85335754-85335755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555548206	chr3:85345842-85345843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183613223	chr3:85345852-85345853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541553173	chr3:85345884-85345885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559868653	chr3:85345908-85345909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533391471	chr3:85345909-85345910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370603265	chr3:85345910-85345911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545381021	chr3:85345941-85345942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563865103	chr3:85345964-85345965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531242230	chr3:85346020-85346021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549367865	chr3:85346048-85346049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs72919301	chr3:85346068-85346069	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs560209711	chr3:85346072-85346073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34059255	chr3:85346115-85346116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371072615	chr3:85346117-85346118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189585996	chr3:85346133-85346134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149753821	chr3:85346167-85346168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528630318	chr3:85346172-85346173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547126591	chr3:85346216-85346217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181118842	chr3:85346234-85346235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539108782	chr3:85346306-85346307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557725472	chr3:85346307-85346308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186808565	chr3:85346330-85346331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548495426	chr3:85346335-85346336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143685125	chr3:85346336-85346337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371442926	chr3:85346349-85346350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569509640	chr3:85346397-85346398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537373551	chr3:85346402-85346403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1452123	chr3:85346439-85346440	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs191720408	chr3:85346440-85346441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6773353	chr3:85346504-85346505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186533693	chr3:85346511-85346512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553548971	chr3:85346534-85346535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369389031	chr3:85346558-85346559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190983626	chr3:85346576-85346577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553802133	chr3:85346599-85346600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs578041227	chr3:85346649-85346650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376335156	chr3:85346657-85346658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114440505	chr3:85346663-85346664	Enhancers	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:224 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85335200-85335800	Enhancers	Brain Hippocampus Middle	brain
2	chr3:85345800-85347600	Enhancers	Brain Angular Gyrus	brain
3	chr3:85346200-85346800	Enhancers	Brain Anterior Caudate	brain
4	chr3:85346200-85347400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr3:85346400-85346800	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr3:85346400-85349800	Enhancers	Brain Substantia Nigra	brain
7	chr3:85346600-85347000	Enhancers	Brain Germinal Matrix	brain
8	chr3:85346600-85347600	Enhancers	Brain Hippocampus Middle	brain
9	chr3:85346800-85347200	Weak transcription	Brain Anterior Caudate	brain
10	chr3:85346800-85347200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:85346800-85348000	Enhancers	Brain Cingulate Gyrus	brain
12	chr3:85347000-85351000	Weak transcription	Brain Germinal Matrix	brain
13	chr3:85347200-85347400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr3:85347200-85347600	Enhancers	Brain Anterior Caudate	brain
15	chr3:85347400-85347600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:85347400-85349800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr3:85347400-85349800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr3:85347600-85348600	Weak transcription	Brain Angular Gyrus	brain
19	chr3:85347600-85348600	Weak transcription	Brain Anterior Caudate	brain
20	chr3:85347600-85348600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:85347600-85349800	Weak transcription	Brain Hippocampus Middle	brain
22	chr3:85348000-85348400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr3:85348400-85350200	Enhancers	Brain Cingulate Gyrus	brain
24	chr3:85348600-85349200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr3:85348600-85349800	Enhancers	Brain Angular Gyrus	brain
26	chr3:85348600-85349800	Enhancers	Brain Anterior Caudate	brain
27	chr3:85349200-85349600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:85349600-85349800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:85349800-85350000	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr3:85349800-85350000	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr3:85349800-85350200	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr3:85349800-85350200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr3:85349800-85350600	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr3:85349800-85350600	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr3:85349800-85352200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr3:85350000-85350200	Enhancers	Brain Anterior Caudate	brain
37	chr3:85350000-85350400	Active TSS	Brain Angular Gyrus	brain
38	chr3:85350200-85350600	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr3:85350200-85350600	Flanking Active TSS	Brain Cingulate Gyrus	brain
40	chr3:85350200-85350600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:85350200-85351000	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr3:85350400-85351400	Weak transcription	Brain Angular Gyrus	brain
43	chr3:85350400-85352000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr3:85350600-85351400	Enhancers	Brain Substantia Nigra	brain
45	chr3:85350600-85351600	Enhancers	Brain Anterior Caudate	brain
46	chr3:85350600-85352000	Enhancers	Brain Cingulate Gyrus	brain
47	chr3:85350600-85352000	Enhancers	Brain Hippocampus Middle	brain
48	chr3:85350600-85352200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr3:85351000-85352200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr3:85351000-85352600	Enhancers	Brain Germinal Matrix	brain

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