Variant report

Variant	rs1123176
Chromosome Location	chr2:187607471-187607472
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187605948..187608819-chr2:187609356..187611446,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10931252	1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10931254	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11678136	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11683459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11684356	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs11684434	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11684626	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11695399	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11885414	0.88[ASN][1000 genomes]
rs11885416	0.88[ASN][1000 genomes]
rs11886619	0.88[ASN][1000 genomes]
rs11891192	0.88[ASN][1000 genomes]
rs11891461	0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11902171	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12612335	0.86[CHB][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12614008	0.88[ASN][1000 genomes]
rs12617531	0.86[ASN][1000 genomes]
rs12619357	0.88[ASN][1000 genomes]
rs12621915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16828148	1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs16828163	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs16828175	0.88[ASN][1000 genomes]
rs16828182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16828214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595389	1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[YRI][hapmap];0.84[ASN][1000 genomes]
rs2887831	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs3213963	0.83[ASN][1000 genomes]
rs36079004	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3738919	1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs3768784	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs3768787	1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs3795865	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs3886170	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs58757504	0.83[ASN][1000 genomes]
rs61764186	0.86[ASN][1000 genomes]
rs61764188	0.86[ASN][1000 genomes]
rs61764575	0.86[ASN][1000 genomes]
rs61764576	0.88[ASN][1000 genomes]
rs61764580	0.88[ASN][1000 genomes]
rs6723908	0.93[YRI][hapmap]
rs72905143	0.88[ASN][1000 genomes]
rs72905150	0.88[ASN][1000 genomes]
rs72905152	0.88[ASN][1000 genomes]
rs72905160	0.88[ASN][1000 genomes]
rs72905169	0.90[ASN][1000 genomes]
rs7584329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7589682	0.81[ASN][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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187592200-187618600	Weak transcription	Osteobl	bone
2	chr2:187596600-187611400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:187596600-187626200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:187598600-187621200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:187599600-187631000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:187600000-187613200	Weak transcription	Pancreas	Pancrea
7	chr2:187600200-187611000	Weak transcription	Brain Angular Gyrus	brain
8	chr2:187603000-187612800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:187603200-187626400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:187603200-187626600	Weak transcription	Fetal Stomach	stomach
11	chr2:187603400-187612600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:187603400-187612800	Weak transcription	Brain Anterior Caudate	brain
13	chr2:187603400-187613000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:187603400-187626400	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:187603600-187626600	Weak transcription	Left Ventricle	heart
16	chr2:187603800-187611800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:187603800-187612800	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:187603800-187621200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:187604000-187609800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:187604000-187613200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:187604000-187618600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:187604800-187613000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:187605000-187626200	Weak transcription	NHDF-Ad	bronchial
24	chr2:187605000-187626400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:187605400-187611400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:187605400-187612800	Weak transcription	Fetal Brain Female	brain
27	chr2:187605600-187608600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:187605600-187619200	Weak transcription	Ovary	ovary
29	chr2:187606000-187612800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:187606200-187612400	Weak transcription	Brain Germinal Matrix	brain
31	chr2:187607000-187619600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:187607400-187626200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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