Variant report

Variant	rs10189756
Chromosome Location	chr2:11503081-11503082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11498130..11500885-chr2:11501118..11503134,2	MCF-7	breast:
2	chr2:11500952..11503816-chr2:11504452..11506520,2	MCF-7	breast:
3	chr2:11502724..11505633-chr2:11505790..11508071,2	K562	blood:

Variant related genes	Relation type
ENSG00000230952	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10187981	0.82[JPT][hapmap]
rs10929727	0.82[JPT][hapmap]
rs10929728	0.82[JPT][hapmap]
rs11891012	0.85[CEU][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs13393192	0.82[JPT][hapmap]
rs13404430	0.80[GIH][hapmap];0.82[JPT][hapmap]
rs13423864	0.82[JPT][hapmap]
rs1868585	0.82[JPT][hapmap]
rs4669700	0.82[JPT][hapmap]
rs4669702	0.82[JPT][hapmap]
rs55859780	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs6705170	0.88[ASW][hapmap];0.85[CEU][hapmap];0.82[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.96[LWK][hapmap];0.91[MEX][hapmap];0.99[MKK][hapmap];0.87[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6736194	0.82[CEU][hapmap];0.87[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap]
rs6739310	0.85[CEU][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6743710	0.96[CEU][hapmap];0.80[JPT][hapmap];0.97[EUR][1000 genomes]
rs6744083	0.84[AMR][1000 genomes]
rs6744332	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6759032	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6759164	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6759299	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7589459	0.81[AFR][1000 genomes]
rs7598032	0.80[GIH][hapmap];0.82[JPT][hapmap]
rs7605784	0.82[EUR][1000 genomes]
rs7605793	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10189756	ROCK2	cis	cerebellum	SCAN
rs10189756	ROCK2	Cis_1M	lymphoblastoid	RTeQTL
rs10189756	IAH1	cis	cerebellum	SCAN
rs10189756	ROCK2	cis	parietal	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11497600-11507400	Weak transcription	Fetal Brain Female	brain
2	chr2:11498000-11504400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:11498200-11505200	Weak transcription	Spleen	Spleen
4	chr2:11498200-11505400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:11498200-11505400	Weak transcription	Liver	Liver
6	chr2:11498200-11505600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:11498200-11507400	Weak transcription	Small Intestine	intestine
8	chr2:11498200-11508000	Weak transcription	Right Atrium	heart
9	chr2:11498800-11505400	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:11498800-11505400	Weak transcription	Placenta	Placenta
11	chr2:11498800-11505600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:11500000-11505200	Weak transcription	Fetal Stomach	stomach
13	chr2:11500000-11505400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:11500000-11505600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:11500000-11507600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:11500200-11505600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:11500200-11507600	Weak transcription	Brain Germinal Matrix	brain
18	chr2:11500400-11503800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:11500400-11507400	Weak transcription	Fetal Lung	lung
20	chr2:11502000-11504400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:11502400-11504200	Enhancers	Fetal Intestine Large	intestine
22	chr2:11502600-11503400	Enhancers	K562	blood
23	chr2:11502600-11504200	Enhancers	Fetal Intestine Small	intestine
24	chr2:11502800-11503200	Enhancers	Osteobl	bone
25	chr2:11502800-11503400	Enhancers	A549	lung
26	chr2:11502800-11503400	Enhancers	NHEK	skin
27	chr2:11503000-11503400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:11503000-11503400	Enhancers	Hela-S3	cervix
29	chr2:11503000-11503400	Flanking Bivalent TSS/Enh	HepG2	liver

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