Variant report

Variant	rs2595381
Chromosome Location	chr2:187627567-187627568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187626591..187628970-chr2:187631316..187633889,2	K562	blood:
2	chr2:187627243..187630051-chr2:187634032..187636877,3	MCF-7	breast:
3	chr2:187623050..187625745-chr2:187626685..187628956,3	K562	blood:
4	chr2:187623638..187625745-chr2:187626685..187628956,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10178617	0.80[CEU][hapmap];1.00[ASN][1000 genomes]
rs10205569	1.00[YRI][hapmap]
rs10211436	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13395234	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13407063	1.00[ASN][1000 genomes]
rs13413716	0.80[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13422838	0.80[CEU][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs13430921	1.00[ASN][1000 genomes]
rs17406098	0.80[CEU][hapmap];1.00[ASN][1000 genomes]
rs2122176	1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2442317	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2594700	0.80[CEU][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs2594701	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595380	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[LWK][hapmap];0.94[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595382	0.89[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595391	1.00[ASN][1000 genomes]
rs2595392	1.00[ASN][1000 genomes]
rs2595394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595398	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682849	1.00[YRI][hapmap]
rs2682850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682851	0.89[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682855	1.00[ASN][1000 genomes]
rs2682857	1.00[ASN][1000 genomes]
rs2682862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682875	0.88[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28616716	1.00[ASN][1000 genomes]
rs3114944	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55666589	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62196179	1.00[ASN][1000 genomes]
rs62197740	1.00[ASN][1000 genomes]
rs7424602	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7564965	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581547	0.94[AMR][1000 genomes];0.89[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	nsv428069	chr2:187575692-187766209	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187599600-187631000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:187611000-187628800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:187611000-187628800	Weak transcription	HSMM	muscle
4	chr2:187612000-187636200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:187612400-187628800	Weak transcription	Fetal Kidney	kidney
6	chr2:187613200-187630000	Weak transcription	Spleen	Spleen
7	chr2:187613800-187634000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:187617600-187627800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:187618400-187629200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:187621800-187628800	Weak transcription	HSMMtube	muscle
11	chr2:187622000-187628600	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:187622600-187629000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:187622600-187636200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:187622800-187628400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:187622800-187629200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:187622800-187629400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:187623000-187628800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:187623000-187636200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:187624200-187628600	Weak transcription	Psoas Muscle	Psoas
20	chr2:187625400-187627800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:187625400-187627800	Weak transcription	Fetal Intestine Large	intestine
22	chr2:187625600-187627800	Strong transcription	Brain Hippocampus Middle	brain
23	chr2:187625800-187627600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:187626000-187627600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:187626000-187627800	Weak transcription	Fetal Intestine Small	intestine
26	chr2:187626200-187627600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:187626200-187627600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:187626200-187627600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:187626200-187627600	Strong transcription	Brain Anterior Caudate	brain
30	chr2:187626400-187627600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:187626400-187627600	Strong transcription	Primary hematopoietic stem cells	blood
32	chr2:187626400-187627600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:187626400-187627600	Strong transcription	Brain Angular Gyrus	brain
34	chr2:187626400-187627600	Strong transcription	Brain Germinal Matrix	brain
35	chr2:187626400-187627600	Strong transcription	Brain Substantia Nigra	brain
36	chr2:187626400-187627600	Strong transcription	Fetal Muscle Trunk	muscle
37	chr2:187626400-187627600	Strong transcription	Placenta	Placenta
38	chr2:187626400-187627800	Strong transcription	Brain Cingulate Gyrus	brain
39	chr2:187626400-187628000	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr2:187626600-187627600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:187626600-187627600	Strong transcription	Fetal Stomach	stomach
42	chr2:187626600-187627600	ZNF genes & repeats	Lung	lung
43	chr2:187626600-187627800	Strong transcription	Fetal Brain Female	brain
44	chr2:187626600-187629000	Weak transcription	NHDF-Ad	bronchial
45	chr2:187627000-187627800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:187627000-187628600	Weak transcription	Fetal Brain Male	brain
47	chr2:187627200-187627600	Weak transcription	Aorta	Aorta
48	chr2:187627200-187627800	Weak transcription	Gastric	stomach
49	chr2:187627200-187628800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:187627200-187628800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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