Variant report

Variant	nsv536618
Chromosome Location	chr3:85246185-85426996
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:85401815..85404016-chr3:85405205..85407101,2	K562	blood:
2	chr3:85277464..85279349-chr3:85282954..85285645,2	MCF-7	breast:
3	chr3:85353354..85354461-chr3:85391496..85392792,4	MCF-7	breast:
4	chr3:84992684..84993232-chr3:85391799..85392321,2	MCF-7	breast:
5	chr3:85277464..85279349-chr3:85282954..85285645,2	MCF-7	breast:
6	chr3:85353254..85353869-chr3:85625261..85626043,2	MCF-7	breast:
7	chr3:85425596..85428443-chr3:85428590..85430282,2	K562	blood:
8	chr3:85409636..85410536-chr3:85624933..85625875,2	MCF-7	breast:
9	chr3:85353291..85354669-chr3:85409554..85410988,3	K562	blood:
10	chr3:85353354..85354461-chr3:85391496..85392792,4	MCF-7	breast:
11	chr3:85364029..85366181-chr3:85371658..85373734,2	K562	blood:
12	chr3:85353629..85354290-chr3:85624959..85625479,2	K562	blood:
13	chr3:85401815..85404016-chr3:85405205..85407101,2	K562	blood:
14	chr3:84597130..84597691-chr3:85409635..85410581,3	MCF-7	breast:
15	chr3:85353497..85354172-chr3:85624891..85625399,2	MCF-7	breast:
16	chr3:85364029..85366181-chr3:85371658..85373734,2	K562	blood:
17	chr3:85353413..85354226-chr3:85409666..85410591,2	MCF-7	breast:
18	chr3:85023240..85023756-chr3:85409642..85410352,2	MCF-7	breast:
19	chr3:85353413..85354226-chr3:85409666..85410591,2	MCF-7	breast:
20	chr3:85353291..85354669-chr3:85409554..85410988,3	K562	blood:

No data

Extended variants
information (count: 4040 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:4040 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547857902	chr3:85251206-85251207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs191291002	chr3:85251215-85251216	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs60282795	chr3:85251229-85251230	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs76023970	chr3:85251231-85251232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs397990405	chr3:85251249-85251250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs138553664	chr3:85251250-85251251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs553419383	chr3:85251251-85251252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs149168261	chr3:85251264-85251265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs142262764	chr3:85251270-85251271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs564454744	chr3:85251285-85251286	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs183725503	chr3:85251299-85251300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs543678577	chr3:85251375-85251376	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs561845570	chr3:85251376-85251377	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs529073078	chr3:85251391-85251392	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs541545092	chr3:85251433-85251434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs146798243	chr3:85251475-85251476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs34531862	chr3:85251525-85251526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs533407966	chr3:85251562-85251563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs4557168	chr3:85251603-85251604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs551472280	chr3:85251609-85251610	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs570361003	chr3:85251631-85251632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs531088155	chr3:85251672-85251673	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs4635720	chr3:85251688-85251689	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs74666324	chr3:85251689-85251690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs549393977	chr3:85251697-85251698	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs367933589	chr3:85251699-85251700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs372002692	chr3:85251788-85251789	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs553454521	chr3:85251794-85251795	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs188797358	chr3:85251810-85251811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs369328489	chr3:85251840-85251841	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs539459787	chr3:85251850-85251851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs557455961	chr3:85251883-85251884	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs181365330	chr3:85251888-85251889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs373144749	chr3:85251973-85251974	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs376152184	chr3:85252019-85252020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs114698686	chr3:85252022-85252023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs79953206	chr3:85252049-85252050	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs573882016	chr3:85252067-85252068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs535888030	chr3:85252083-85252084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs76633736	chr3:85252121-85252122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs140713457	chr3:85252159-85252160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs533250289	chr3:85252179-85252180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs114713398	chr3:85252180-85252181	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs183950945	chr3:85256067-85256068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs76190088	chr3:85256118-85256119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543920111	chr3:85256123-85256124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576434624	chr3:85256154-85256155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543803759	chr3:85256184-85256185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs5850679	chr3:85256200-85256201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34022096	chr3:85256201-85256202	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:319 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85251200-85252200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:85251800-85252200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
3	chr3:85256000-85257400	Enhancers	Fetal Brain Female	brain
4	chr3:85256200-85257600	Enhancers	Fetal Brain Male	brain
5	chr3:85263400-85265800	Weak transcription	Brain Angular Gyrus	brain
6	chr3:85273200-85273400	ZNF genes & repeats	Brain Hippocampus Middle	brain
7	chr3:85273400-85278200	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:85277800-85278600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:85277800-85278800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:85278000-85278400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:85278000-85279400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:85278200-85278400	Enhancers	Brain Hippocampus Middle	brain
13	chr3:85278200-85278600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr3:85278200-85278600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:85278200-85278600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr3:85278200-85278600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr3:85278400-85279200	Weak transcription	Brain Hippocampus Middle	brain
18	chr3:85278400-85279600	Enhancers	Brain Substantia Nigra	brain
19	chr3:85279200-85279800	Enhancers	Brain Hippocampus Middle	brain
20	chr3:85288200-85288400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:85288400-85289600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:85288400-85307600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:85289600-85291200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:85292400-85295800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:85302600-85302800	Enhancers	Brain Cingulate Gyrus	brain
26	chr3:85302600-85303000	Enhancers	Brain Germinal Matrix	brain
27	chr3:85302800-85303800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr3:85303000-85308200	Weak transcription	Brain Germinal Matrix	brain
29	chr3:85303600-85303800	Enhancers	Brain Anterior Caudate	brain
30	chr3:85303600-85304600	Enhancers	Brain Angular Gyrus	brain
31	chr3:85303600-85305400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr3:85303800-85304000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr3:85303800-85304400	Enhancers	Brain Cingulate Gyrus	brain
34	chr3:85304000-85304200	Enhancers	Brain Substantia Nigra	brain
35	chr3:85304200-85305200	Enhancers	Brain Hippocampus Middle	brain
36	chr3:85304200-85305200	Weak transcription	Brain Substantia Nigra	brain
37	chr3:85304200-85307200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr3:85304400-85307600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr3:85304600-85307200	Weak transcription	Brain Angular Gyrus	brain
40	chr3:85305000-85305400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr3:85305000-85307200	Weak transcription	Brain Anterior Caudate	brain
42	chr3:85305200-85305600	Enhancers	Brain Substantia Nigra	brain
43	chr3:85305200-85307000	Weak transcription	Brain Hippocampus Middle	brain
44	chr3:85305400-85307200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr3:85305600-85307200	Weak transcription	Brain Substantia Nigra	brain
46	chr3:85307000-85307400	Enhancers	Brain Hippocampus Middle	brain
47	chr3:85307200-85307400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr3:85307200-85307400	Enhancers	Brain Anterior Caudate	brain
49	chr3:85307200-85307600	Enhancers	Brain Angular Gyrus	brain
50	chr3:85307200-85307600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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