Variant report

Variant	rs5743130
Chromosome Location	chr2:190717628-190717629
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190713621..190715990-chr2:190716646..190719108,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10178729	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1046196	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs1233267	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs1233270	0.82[EUR][1000 genomes]
rs1233273	0.82[EUR][1000 genomes]
rs1233274	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs1233286	0.82[EUR][1000 genomes]
rs13404927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256571	1.00[JPT][hapmap]
rs41561515	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs55795880	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5742924	0.82[EUR][1000 genomes]
rs5742949	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs5742955	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs5742962	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs5742965	0.82[EUR][1000 genomes]
rs5742976	0.82[EUR][1000 genomes]
rs5742991	0.82[EUR][1000 genomes]
rs5742993	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs5742997	0.82[EUR][1000 genomes]
rs5743003	0.82[EUR][1000 genomes]
rs5743048	0.82[EUR][1000 genomes]
rs5743067	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5743090	1.00[EUR][1000 genomes]
rs5743102	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs5743161	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5743164	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs5743169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5743175	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs5743187	0.87[ASN][1000 genomes]
rs5743189	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs5743204	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58147864	0.82[EUR][1000 genomes]
rs58856396	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs59846629	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs60386871	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6750293	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs73042330	0.82[EUR][1000 genomes]
rs73042348	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73042354	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73042369	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73044242	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73044270	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73044272	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73044274	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73054335	0.82[EUR][1000 genomes]
rs73054336	0.82[EUR][1000 genomes]
rs73054342	0.82[EUR][1000 genomes]
rs735558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7579156	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875617	chr2:190701869-190724141	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190656800-190721000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:190658200-190743800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:190659800-190743600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:190661400-190717800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:190662800-190719000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:190664800-190741800	Weak transcription	Brain Angular Gyrus	brain
7	chr2:190669400-190743800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:190671000-190719600	Weak transcription	NH-A	brain
9	chr2:190681000-190743000	Weak transcription	Brain Germinal Matrix	brain
10	chr2:190684000-190743600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:190685000-190736400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:190685400-190739400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr2:190685400-190741800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:190687000-190724400	Weak transcription	Esophagus	oesophagus
15	chr2:190687000-190738400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:190687000-190738400	Weak transcription	Lung	lung
17	chr2:190691000-190744200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:190691400-190719000	Weak transcription	HUVEC	blood vessel
19	chr2:190701200-190743200	Weak transcription	Fetal Brain Male	brain
20	chr2:190701400-190744000	Weak transcription	Fetal Brain Female	brain
21	chr2:190701600-190727400	Weak transcription	HSMMtube	muscle
22	chr2:190701600-190743200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:190701600-190744800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:190701800-190745200	Weak transcription	Fetal Kidney	kidney
25	chr2:190702400-190745600	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:190703600-190719600	Weak transcription	NHLF	lung
27	chr2:190705200-190740000	Weak transcription	Right Ventricle	heart
28	chr2:190705400-190721400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:190706800-190742800	Weak transcription	Fetal Heart	heart
30	chr2:190707000-190738200	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:190707000-190741400	Weak transcription	Brain Anterior Caudate	brain
32	chr2:190707400-190741200	Weak transcription	Brain Substantia Nigra	brain
33	chr2:190707600-190746000	Weak transcription	Left Ventricle	heart
34	chr2:190708400-190743400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:190708800-190744400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:190709200-190719200	Weak transcription	Osteobl	bone
37	chr2:190709200-190727200	Weak transcription	A549	lung
38	chr2:190709600-190744000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:190710600-190741800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:190710800-190719000	Weak transcription	HMEC	breast
41	chr2:190711000-190726800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:190711800-190717800	Weak transcription	Fetal Intestine Small	intestine
43	chr2:190711800-190733000	Weak transcription	Spleen	Spleen
44	chr2:190713000-190719400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:190713200-190717800	Weak transcription	Liver	Liver
46	chr2:190713200-190743400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:190713200-190743800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr2:190713200-190745600	Weak transcription	Pancreas	Pancrea
49	chr2:190713600-190720600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr2:190713800-190718600	Weak transcription	NHDF-Ad	bronchial

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