Variant report

Variant	nsv590907
Chromosome Location	chr3:85619451-85694987
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:85549675..85551954-chr3:85625697..85627676,2	K562	blood:
2	chr3:85353629..85354290-chr3:85624959..85625479,2	K562	blood:
3	chr3:85657188..85659401-chr3:85663146..85665310,2	MCF-7	breast:
4	chr16:62102334..62103232-chr3:85670335..85671139,2	MCF-7	breast:
5	chr3:85550792..85552939-chr3:85620775..85622757,2	K562	blood:
6	chr3:85551480..85554348-chr3:85623401..85624978,2	K562	blood:
7	chr3:85409636..85410536-chr3:85624933..85625875,2	MCF-7	breast:
8	chr3:85691376..85694166-chr3:85695879..85697418,2	K562	blood:
9	chr3:85689296..85692115-chr3:85697978..85700192,2	K562	blood:
10	chr3:85657188..85659401-chr3:85663146..85665310,2	MCF-7	breast:
11	chr3:85616525..85619382-chr3:85621735..85623491,2	K562	blood:
12	chr3:85353497..85354172-chr3:85624891..85625399,2	MCF-7	breast:
13	chr3:85353254..85353869-chr3:85625261..85626043,2	MCF-7	breast:

No data

Extended variants
information (count: 1763 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1763 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17460569	chr3:85619451-85619452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377478074	chr3:85619456-85619457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565803335	chr3:85619485-85619486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539523924	chr3:85619498-85619499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551615239	chr3:85619516-85619517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570614107	chr3:85619584-85619585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs59211082	chr3:85619644-85619645	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs556376253	chr3:85619669-85619670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553112464	chr3:85619703-85619704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535404919	chr3:85619720-85619721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553825982	chr3:85619747-85619748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572100626	chr3:85619760-85619761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545869321	chr3:85619770-85619771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12639564	chr3:85619783-85619784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs576579130	chr3:85619801-85619802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12634226	chr3:85619811-85619812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs61316596	chr3:85619857-85619858	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs187448819	chr3:85619869-85619870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547709831	chr3:85619889-85619890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533245176	chr3:85619901-85619902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559303853	chr3:85619914-85619915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374603743	chr3:85619980-85619981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192628531	chr3:85620053-85620054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570054751	chr3:85620054-85620055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538003395	chr3:85620068-85620069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183834530	chr3:85620091-85620092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574849958	chr3:85620098-85620099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376788069	chr3:85620186-85620187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145166303	chr3:85620188-85620189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535727109	chr3:85620201-85620202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554144126	chr3:85620212-85620213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572061554	chr3:85620218-85620219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528045948	chr3:85620237-85620238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539108672	chr3:85620393-85620394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372309234	chr3:85620398-85620399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557790615	chr3:85620449-85620450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77327017	chr3:85620466-85620467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562158888	chr3:85620481-85620482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543963640	chr3:85620494-85620495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561967835	chr3:85620498-85620499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138989942	chr3:85620502-85620503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368025378	chr3:85620525-85620526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79490877	chr3:85620529-85620530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569833454	chr3:85620559-85620560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77301011	chr3:85620560-85620561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541314861	chr3:85620561-85620562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559664900	chr3:85620593-85620594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62250496	chr3:85620621-85620622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs529521116	chr3:85620630-85620631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542984043	chr3:85620669-85620670	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:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85616400-85621400	Weak transcription	Brain Substantia Nigra	brain
2	chr3:85620800-85621800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:85621000-85621600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:85621200-85622000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr3:85621400-85621800	Enhancers	Brain Substantia Nigra	brain
6	chr3:85621600-85621800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr3:85621600-85622000	Enhancers	Adipose Nuclei	Adipose
8	chr3:85621600-85622000	Enhancers	Brain Hippocampus Middle	brain
9	chr3:85621600-85623000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:85621800-85623000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:85621800-85623000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:85621800-85626400	Weak transcription	Brain Substantia Nigra	brain
13	chr3:85622000-85623000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr3:85622000-85625600	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:85623000-85623600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:85623000-85624000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr3:85623000-85624200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:85623000-85624200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:85623000-85624200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr3:85623200-85623600	Active TSS	NH-A	brain
21	chr3:85623200-85623800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:85623200-85624400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:85623400-85624200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:85624000-85624200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr3:85624400-85625400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr3:85625400-85625600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:85625400-85625800	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr3:85625400-85625800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr3:85625400-85625800	Enhancers	Brain Anterior Caudate	brain
30	chr3:85625600-85625800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:85625600-85626200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr3:85625600-85627400	Enhancers	Brain Hippocampus Middle	brain
33	chr3:85625800-85626200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr3:85625800-85626400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:85625800-85627400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:85625800-85634200	Weak transcription	Brain Anterior Caudate	brain
37	chr3:85626200-85626400	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr3:85626400-85626600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr3:85626400-85626600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr3:85626400-85626600	Enhancers	Brain Substantia Nigra	brain
41	chr3:85627400-85627800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:85628400-85628600	Enhancers	Brain Substantia Nigra	brain
43	chr3:85633400-85633800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:85633600-85634000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr3:85633600-85634000	Enhancers	GM12878-XiMat	blood
46	chr3:85633800-85634200	Active TSS	Monocytes-CD14+_RO01746	blood
47	chr3:85633800-85634400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:85634000-85634400	Enhancers	HSMMtube	muscle
49	chr3:85634200-85634400	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr3:85634200-85634400	Enhancers	Aorta	Aorta

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