Variant report

Variant	nsv875480
Chromosome Location	chr2:183442443-183489249
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:183484463..183486734-chr2:183489147..183491693,3	K562	blood:
2	chr2:183165936..183166478-chr2:183451147..183451888,2	MCF-7	breast:
3	chr2:183105303..183105848-chr2:183450937..183451448,2	MCF-7	breast:
4	chr2:183444746..183446283-chr2:183447847..183449772,2	K562	blood:
5	chr2:183410632..183412807-chr2:183450091..183453006,2	K562	blood:
6	chr2:183444746..183446283-chr2:183447847..183449772,2	K562	blood:
7	chr2:183462276..183465034-chr2:183470042..183471619,2	K562	blood:
8	chr2:183485234..183486908-chr2:183488749..183490647,2	K562	blood:
9	chr2:183472950..183474900-chr2:183475047..183476914,2	K562	blood:
10	chr2:183485446..183488008-chr2:183493899..183496895,2	K562	blood:
11	chr2:183472950..183474900-chr2:183475047..183476914,2	K562	blood:
12	chr2:183462276..183465034-chr2:183470042..183471619,2	K562	blood:
13	chr2:183485234..183486908-chr2:183488749..183490647,2	K562	blood:
14	chr2:183484463..183486734-chr2:183489147..183491693,3	K562	blood:

No data

Extended variants
information (count: 1640 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:1640 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6758080	chr2:183442443-183442444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs13423096	chr2:183442449-183442450	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs555794409	chr2:183442482-183442483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372793224	chr2:183442487-183442488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184213982	chr2:183442518-183442519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189525891	chr2:183442584-183442585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181134472	chr2:183442645-183442646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533212497	chr2:183442658-183442659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528767393	chr2:183442659-183442660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543722140	chr2:183442687-183442688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186572146	chr2:183442713-183442714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6433980	chr2:183442717-183442718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112912141	chr2:183442719-183442720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71008231	chr2:183442720-183442721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189065575	chr2:183442822-183442823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146408010	chr2:183442892-183442893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181730041	chr2:183442931-183442932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373200096	chr2:183442945-183442946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534407046	chr2:183443013-183443014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139754462	chr2:183443030-183443031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143179207	chr2:183443061-183443062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186391027	chr2:183443133-183443134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7570144	chr2:183443136-183443137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs369003085	chr2:183443153-183443154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558493221	chr2:183443170-183443171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191145535	chr2:183443264-183443265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184126029	chr2:183443321-183443322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76761827	chr2:183443342-183443343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572529112	chr2:183443375-183443376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541526372	chr2:183443377-183443378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558315326	chr2:183443424-183443425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs59060920	chr2:183443443-183443444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs112356951	chr2:183443507-183443508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543270134	chr2:183443527-183443528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556547588	chr2:183443543-183443544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563571883	chr2:183443600-183443601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573857972	chr2:183443683-183443684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72892790	chr2:183443743-183443744	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs376352381	chr2:183443747-183443748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs57267003	chr2:183443902-183443903	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs528122583	chr2:183443927-183443928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368515110	chr2:183443931-183443932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539190835	chr2:183443939-183443940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10173815	chr2:183443945-183443946	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs370425429	chr2:183443972-183443973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531008119	chr2:183444009-183444010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564672424	chr2:183444043-183444044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182777725	chr2:183444195-183444196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559555163	chr2:183444206-183444207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188441396	chr2:183444285-183444286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183442400-183447000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:183443800-183444200	Enhancers	Fetal Intestine Small	intestine
3	chr2:183445400-183447000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:183445600-183446400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:183445600-183446800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:183445600-183447000	Enhancers	Osteobl	bone
7	chr2:183445800-183447000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:183446200-183446400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:183446400-183451000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:183446800-183451200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:183446800-183451800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:183447000-183447200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:183447000-183447400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:183447000-183451400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:183447000-183451800	Weak transcription	Osteobl	bone
16	chr2:183449200-183449400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr2:183449200-183449600	Enhancers	Fetal Muscle Leg	muscle
18	chr2:183449200-183449600	Enhancers	Left Ventricle	heart
19	chr2:183449200-183449600	Enhancers	NHLF	lung
20	chr2:183449200-183449800	Enhancers	Fetal Heart	heart
21	chr2:183449600-183451600	Weak transcription	NHLF	lung
22	chr2:183449800-183452600	Weak transcription	Fetal Heart	heart
23	chr2:183451000-183451200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:183451000-183451400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:183451000-183451400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:183451000-183451400	Enhancers	Brain Angular Gyrus	brain
27	chr2:183451000-183451400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr2:183451000-183452000	Enhancers	Brain Cingulate Gyrus	brain
29	chr2:183451000-183453000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:183451000-183453200	Enhancers	HSMMtube	muscle
31	chr2:183451000-183453400	Enhancers	NHDF-Ad	bronchial
32	chr2:183451200-183451800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:183451200-183452200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:183451200-183453000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr2:183451200-183453000	Enhancers	HSMM	muscle
36	chr2:183451200-183453400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:183451400-183451600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:183451400-183451800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:183451400-183452000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr2:183451400-183452200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr2:183451400-183452400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:183451600-183452200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:183451600-183453200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:183451600-183453400	Enhancers	NHLF	lung
45	chr2:183451800-183452000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:183451800-183452000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:183451800-183452200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:183451800-183452400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr2:183451800-183453400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:183451800-183453400	Enhancers	NH-A	brain

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