Variant report

Variant	nsv536628
Chromosome Location	chr3:85561009-85631527
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:85569919..85571559-chr3:85571800..85574471,2	K562	blood:
2	chr3:85582405..85584379-chr3:85589105..85591498,2	K562	blood:
3	chr3:85616525..85619382-chr3:85621735..85623491,2	K562	blood:
4	chr3:85353497..85354172-chr3:85624891..85625399,2	MCF-7	breast:
5	chr22:22050906..22053807-chr3:85561046..85562647,2	K562	blood:
6	chr3:85353254..85353869-chr3:85625261..85626043,2	MCF-7	breast:
7	chr3:85569919..85571559-chr3:85571800..85574471,2	K562	blood:
8	chr3:85582405..85584379-chr3:85589105..85591498,2	K562	blood:
9	chr3:85554458..85559025-chr3:85559659..85564098,6	K562	blood:
10	chr3:85489023..85491028-chr3:85614972..85617090,2	K562	blood:
11	chr3:85561871..85565321-chr3:85567956..85571007,5	K562	blood:
12	chr3:85353629..85354290-chr3:85624959..85625479,2	K562	blood:
13	chr3:85409636..85410536-chr3:85624933..85625875,2	MCF-7	breast:
14	chr3:85561871..85565321-chr3:85567956..85571007,5	K562	blood:
15	chr3:85549675..85551954-chr3:85625697..85627676,2	K562	blood:
16	chr3:85550792..85552939-chr3:85620775..85622757,2	K562	blood:
17	chr3:85571729..85574723-chr3:85578667..85580600,2	K562	blood:
18	chr3:85551480..85554348-chr3:85623401..85624978,2	K562	blood:
19	chr3:85550694..85553715-chr3:85562655..85565189,4	K562	blood:
20	chr3:85571729..85574723-chr3:85578667..85580600,2	K562	blood:
21	chr3:85616525..85619382-chr3:85621735..85623491,2	K562	blood:

No data

Extended variants
information (count: 1895 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1895 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375292199	chr3:85561042-85561043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531097649	chr3:85561077-85561078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543257477	chr3:85561088-85561089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs151124369	chr3:85561095-85561096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139865876	chr3:85561169-85561170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553272863	chr3:85561178-85561179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74685127	chr3:85561241-85561242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547022917	chr3:85561267-85561268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571603586	chr3:85561312-85561313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532382863	chr3:85561331-85561332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550616371	chr3:85561333-85561334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184687185	chr3:85561398-85561399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569033393	chr3:85561412-85561413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114935441	chr3:85561465-85561466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559057831	chr3:85561559-85561560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73128361	chr3:85561565-85561566	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs371228252	chr3:85561582-85561583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534913967	chr3:85561779-85561780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11127897	chr3:85561808-85561809	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs577518836	chr3:85561811-85561812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs58418795	chr3:85561837-85561838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555009748	chr3:85561838-85561839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574815922	chr3:85561866-85561867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545043673	chr3:85561915-85561916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34740808	chr3:85561943-85561944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs397877117	chr3:85561947-85561948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557057065	chr3:85562014-85562015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563725256	chr3:85562025-85562026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575393926	chr3:85562045-85562046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530936099	chr3:85562070-85562071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186077865	chr3:85562079-85562080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545843553	chr3:85562120-85562121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561527450	chr3:85562126-85562127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573395930	chr3:85562137-85562138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540884160	chr3:85562164-85562165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565444605	chr3:85562175-85562176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532345600	chr3:85562205-85562206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550579295	chr3:85562341-85562342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562578721	chr3:85562343-85562344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143843364	chr3:85562411-85562412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190991167	chr3:85562424-85562425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183212160	chr3:85562499-85562500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534521042	chr3:85562530-85562531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564426575	chr3:85562537-85562538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554061927	chr3:85562567-85562568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576944721	chr3:85562577-85562578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545617019	chr3:85562579-85562580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146695193	chr3:85562594-85562595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575742953	chr3:85562673-85562674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556972867	chr3:85562674-85562675	Weak transcription	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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85545000-85569000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:85558200-85566800	Weak transcription	K562	blood
3	chr3:85561200-85561600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr3:85569000-85569200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr3:85570800-85571200	Active TSS	A549	lung
6	chr3:85574000-85574800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr3:85574000-85574800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr3:85574800-85575400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr3:85574800-85576000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr3:85575400-85575600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr3:85576200-85576400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr3:85583000-85585400	Enhancers	Fetal Brain Male	brain
13	chr3:85583800-85585200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr3:85584200-85584800	Enhancers	Brain Anterior Caudate	brain
15	chr3:85584400-85585000	Enhancers	Brain Cingulate Gyrus	brain
16	chr3:85584400-85585200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr3:85584400-85585400	Enhancers	Brain Substantia Nigra	brain
18	chr3:85584600-85585000	Enhancers	Adipose Nuclei	Adipose
19	chr3:85584600-85585200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:85584600-85585200	Enhancers	Brain Angular Gyrus	brain
21	chr3:85584600-85585200	Enhancers	Brain Hippocampus Middle	brain
22	chr3:85584600-85585200	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr3:85584800-85585000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr3:85584800-85585000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:85584800-85585200	Enhancers	Brain Germinal Matrix	brain
26	chr3:85584800-85587400	Weak transcription	Brain Anterior Caudate	brain
27	chr3:85585000-85588000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr3:85585200-85587200	Weak transcription	Brain Angular Gyrus	brain
29	chr3:85585200-85587400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:85585200-85587600	Weak transcription	Brain Hippocampus Middle	brain
31	chr3:85585400-85591000	Weak transcription	Brain Substantia Nigra	brain
32	chr3:85587200-85588000	Enhancers	Brain Angular Gyrus	brain
33	chr3:85587400-85587800	Enhancers	Brain Anterior Caudate	brain
34	chr3:85587400-85588000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:85587400-85588000	Enhancers	Psoas Muscle	Psoas
36	chr3:85587400-85589800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:85587600-85588200	Enhancers	Brain Hippocampus Middle	brain
38	chr3:85588000-85588600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr3:85591000-85597600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr3:85609000-85609400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr3:85609000-85610200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr3:85609000-85610400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:85609000-85610400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:85609200-85609800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:85609200-85609800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr3:85609200-85610200	Enhancers	Liver	Liver
47	chr3:85609200-85610400	Enhancers	Brain Angular Gyrus	brain
48	chr3:85609200-85610600	Enhancers	HepG2	liver
49	chr3:85609200-85611000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr3:85609400-85609600	Enhancers	Brain Cingulate Gyrus	brain

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