Variant report

Variant	nsv875586
Chromosome Location	chr2:188452524-188508011
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:188473583..188475657-chr2:188480041..188481763,2	K562	blood:
2	chr2:188478254..188481614-chr2:188483978..188486883,3	K562	blood:
3	chr2:188478443..188481336-chr2:188482033..188484662,2	K562	blood:
4	chr2:188478254..188481614-chr2:188483978..188486883,3	K562	blood:
5	chr2:188506449..188508323-chr2:188511407..188513734,2	K562	blood:
6	chr2:188449920..188452608-chr2:188452638..188454975,2	K562	blood:
7	chr2:188478443..188481336-chr2:188482033..188484662,2	K562	blood:
8	chr2:188473165..188475172-chr2:188477640..188480014,2	K562	blood:
9	chr2:188480221..188482587-chr2:188496790..188498507,2	K562	blood:
10	chr2:188480199..188482146-chr2:188486058..188487606,2	K562	blood:
11	chr2:188467603..188470192-chr2:188473529..188476139,3	K562	blood:
12	chr2:188459276..188460160-chr2:189841055..189841647,2	MCF-7	breast:
13	chr2:188445350..188448050-chr2:188450278..188452976,4	K562	blood:
14	chr2:188506973..188509886-chr2:188511524..188513522,2	MCF-7	breast:
15	chr2:188473583..188475657-chr2:188480041..188481763,2	K562	blood:
16	chr2:188449920..188452608-chr2:188452638..188454975,2	K562	blood:
17	chr2:188480221..188482587-chr2:188496790..188498507,2	K562	blood:
18	chr2:188467603..188470192-chr2:188473529..188476139,3	K562	blood:
19	chr2:188460269..188463083-chr2:188643990..188646491,2	K562	blood:
20	chr2:188480199..188482146-chr2:188486058..188487606,2	K562	blood:
21	chr2:188458841..188460185-chr2:189376734..189377597,3	MCF-7	breast:
22	chr2:188473165..188475172-chr2:188477640..188480014,2	K562	blood:
23	chr2:188443788..188447797-chr2:188450278..188454059,4	K562	blood:

No data

Extended variants
information (count: 1234 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:1234 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12990547	chr2:188453612-188453613	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528237992	chr2:188453655-188453656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551719573	chr2:188453676-188453677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570678753	chr2:188453713-188453714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547647092	chr2:188453714-188453715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566149072	chr2:188453744-188453745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143638780	chr2:188453797-188453798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552761108	chr2:188453800-188453801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6743417	chr2:188453801-188453802	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs35659372	chr2:188453837-188453838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186284273	chr2:188453857-188453858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556617543	chr2:188453860-188453861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575230823	chr2:188453879-188453880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372717255	chr2:188453915-188453916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551884033	chr2:188453918-188453919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545502040	chr2:188453929-188453930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191629724	chr2:188453967-188453968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556018947	chr2:188454083-188454084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111317458	chr2:188454093-188454094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540918542	chr2:188454096-188454097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562315166	chr2:188454157-188454158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529487042	chr2:188454203-188454204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183609196	chr2:188454236-188454237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562859201	chr2:188454303-188454304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533439289	chr2:188454310-188454311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577643637	chr2:188454312-188454313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551488554	chr2:188454327-188454328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186457798	chr2:188454370-188454371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570196495	chr2:188454449-188454450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537685575	chr2:188454529-188454530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528414085	chr2:188454543-188454544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369341248	chr2:188454545-188454546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546488650	chr2:188454552-188454553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567943897	chr2:188454562-188454563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556321161	chr2:188454590-188454591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191307509	chr2:188454592-188454593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142284961	chr2:188454610-188454611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568861271	chr2:188454613-188454614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375954275	chr2:188454620-188454621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77667702	chr2:188454662-188454663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557505283	chr2:188454713-188454714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568120218	chr2:188454736-188454737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182762313	chr2:188454745-188454746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534524454	chr2:188454746-188454747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10193778	chr2:188454772-188454773	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs574348216	chr2:188454786-188454787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186661311	chr2:188454792-188454793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114757167	chr2:188454837-188454838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558321679	chr2:188454838-188454839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs207462741	chr2:188454857-188454858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
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
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
Urothelial carcinoma	21177765	CNVD
Intellectual disability	22102821	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188453600-188454400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:188453800-188454200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:188453800-188454200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:188454000-188454400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:188454400-188458400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:188456200-188464000	Weak transcription	Aorta	Aorta
7	chr2:188458000-188458800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:188458200-188458800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:188458200-188458800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:188458400-188458600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:188458400-188458800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:188458400-188459000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:188460400-188460600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:188464000-188464200	Enhancers	Aorta	Aorta
15	chr2:188467400-188467800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:188478000-188478200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:188478200-188479400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:188478800-188479200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:188479200-188482800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:188479400-188480000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:188479400-188480000	Enhancers	Fetal Lung	lung
22	chr2:188479400-188480200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:188479400-188480400	Enhancers	HSMM	muscle
24	chr2:188479400-188480600	Enhancers	HSMMtube	muscle
25	chr2:188479400-188484200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:188479400-188485200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:188479400-188485400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:188479600-188480200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:188479600-188480400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr2:188479800-188480200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:188479800-188480600	Enhancers	Fetal Kidney	kidney
32	chr2:188479800-188483600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr2:188480000-188480400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:188480000-188480400	Enhancers	Ovary	ovary
35	chr2:188480000-188480800	Enhancers	H9 Cell Line	embryonic stem cell
36	chr2:188480000-188480800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:188480000-188481000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr2:188480000-188482600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr2:188480200-188481000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:188480200-188481200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr2:188480200-188483400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:188480200-188484200	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr2:188480400-188480600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr2:188480400-188482000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:188480400-188482200	Weak transcription	HSMM	muscle
46	chr2:188480400-188482600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:188480400-188483200	Weak transcription	Ovary	ovary
48	chr2:188480400-188484400	Enhancers	Brain Germinal Matrix	brain
49	chr2:188480600-188482600	Weak transcription	HSMMtube	muscle
50	chr2:188480600-188483800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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