Variant report

Variant	nsv875574
Chromosome Location	chr2:188333064-188341047
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:188332292..188334574-chr2:188338658..188340896,2	K562	blood:
2	chr2:188327729..188329305-chr2:188335653..188337277,2	K562	blood:
3	chr2:188330316..188331975-chr2:188335329..188337023,2	K562	blood:
4	chr2:188340694..188341382-chr6:117319233..117320186,2	MCF-7	breast:
5	chr2:188338540..188341601-chr2:188345636..188349487,3	K562	blood:
6	chr2:188332292..188334574-chr2:188338658..188340896,2	K562	blood:
7	chr2:188325986..188328358-chr2:188338477..188341086,2	K562	blood:
8	chr2:188340883..188342702-chr2:188345303..188347630,2	K562	blood:

No data

Extended variants
information (count: 301 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4140885	chr2:188333064-188333065	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs534325994	chr2:188333095-188333096	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113663088	chr2:188333127-188333128	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555572200	chr2:188333226-188333227	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574027558	chr2:188333256-188333257	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs5837040	chr2:188333260-188333261	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs8176591	chr2:188333261-188333262	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs397843727	chr2:188333268-188333269	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149263901	chr2:188333366-188333367	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557231692	chr2:188333407-188333408	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575167606	chr2:188333431-188333432	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545670354	chr2:188333476-188333477	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs8176590	chr2:188333518-188333519	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs386653570	chr2:188333529-188333530	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs3836093	chr2:188333531-188333532	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs397843726	chr2:188333533-188333534	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540367329	chr2:188333561-188333562	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538723529	chr2:188333574-188333575	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34731219	chr2:188333585-188333586	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs137872142	chr2:188333628-188333629	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528888511	chr2:188333630-188333631	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186132168	chr2:188333731-188333732	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569595783	chr2:188333738-188333739	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533700395	chr2:188333739-188333740	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550833636	chr2:188333767-188333768	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190120391	chr2:188333794-188333795	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs8176588	chr2:188333817-188333818	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs397843725	chr2:188333825-188333826	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs3836092	chr2:188333832-188333833	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs8176587	chr2:188333837-188333838	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs8176586	chr2:188333898-188333899	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs576133631	chr2:188333904-188333905	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534390456	chr2:188333922-188333923	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150587428	chr2:188334032-188334033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs8176585	chr2:188334132-188334133	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs568954274	chr2:188334173-188334174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567613784	chr2:188334177-188334178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538260075	chr2:188334212-188334213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556311239	chr2:188334215-188334216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs763684	chr2:188334223-188334224	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs8176584	chr2:188334241-188334242	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs183027594	chr2:188334277-188334278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572703068	chr2:188334323-188334324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540010399	chr2:188334354-188334355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187542557	chr2:188334356-188334357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192525835	chr2:188334363-188334364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184210727	chr2:188334369-188334370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540875524	chr2:188334374-188334375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562504087	chr2:188334378-188334379	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371414119	chr2:188334395-188334396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188313400-188340000	Weak transcription	Fetal Brain Male	brain
2	chr2:188325400-188334200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:188326800-188341800	Weak transcription	Adipose Nuclei	Adipose
4	chr2:188326800-188353600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:188326800-188357600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:188326800-188357800	Weak transcription	Lung	lung
7	chr2:188327000-188337400	Weak transcription	Pancreas	Pancrea
8	chr2:188327000-188339200	Weak transcription	Fetal Intestine Small	intestine
9	chr2:188327000-188357800	Weak transcription	Left Ventricle	heart
10	chr2:188327200-188357600	Weak transcription	Fetal Intestine Large	intestine
11	chr2:188327400-188339000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:188327600-188341200	Weak transcription	NHDF-Ad	bronchial
13	chr2:188328200-188342200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:188328200-188357600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:188328200-188360000	Weak transcription	Psoas Muscle	Psoas
16	chr2:188328400-188341800	Weak transcription	NHLF	lung
17	chr2:188328400-188343400	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:188328400-188365400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:188328600-188357200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr2:188328800-188342000	Weak transcription	HSMMtube	muscle
21	chr2:188328800-188343000	Weak transcription	Fetal Stomach	stomach
22	chr2:188329000-188341800	Strong transcription	HSMM	muscle
23	chr2:188329000-188358000	Weak transcription	K562	blood
24	chr2:188329200-188340200	Weak transcription	Hela-S3	cervix
25	chr2:188329200-188347800	Strong transcription	Liver	Liver
26	chr2:188329400-188333600	Strong transcription	Osteobl	bone
27	chr2:188329800-188338600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:188330200-188337400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:188330400-188333200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:188330400-188333600	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr2:188330600-188344400	Weak transcription	Fetal Lung	lung
32	chr2:188330800-188335200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:188331200-188334800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:188331200-188336200	Strong transcription	HepG2	liver
35	chr2:188331800-188333600	Strong transcription	NH-A	brain
36	chr2:188332000-188340200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:188332400-188333600	Strong transcription	Placenta	Placenta
38	chr2:188332400-188334000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:188332400-188336000	Strong transcription	HUVEC	blood vessel
40	chr2:188332800-188357600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:188333000-188333800	Enhancers	NHEK	skin
42	chr2:188333000-188335200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:188333000-188337000	Weak transcription	Aorta	Aorta
44	chr2:188333200-188333400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:188333200-188333600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:188333200-188334800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:188333400-188333600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:188333600-188334200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr2:188333600-188334800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:188333600-188335000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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