Variant report

Variant	rs6743710
Chromosome Location	chr2:11501680-11501681
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	chr2:11493213..11495173-chr2:11500726..11502592,2	K562	blood:

Variant related genes	Relation type
ENSG00000230952	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10167277	0.94[JPT][hapmap]
rs10187981	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10189756	0.96[CEU][hapmap];0.80[JPT][hapmap];0.97[EUR][1000 genomes]
rs10192483	0.83[CHB][hapmap]
rs10198045	0.81[CHB][hapmap]
rs10495582	0.82[CHB][hapmap]
rs10754958	0.82[CHB][hapmap]
rs10929727	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10929728	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11676201	0.95[JPT][hapmap]
rs11680818	0.83[CHB][hapmap]
rs11890858	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11890982	0.96[ASN][1000 genomes]
rs11891012	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12463700	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12467795	0.92[ASN][1000 genomes]
rs12470004	0.83[CHB][hapmap]
rs12475086	0.82[CHB][hapmap]
rs12478098	0.82[CHB][hapmap]
rs12622447	0.95[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs12996399	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs13018466	0.87[CHB][hapmap]
rs13022598	0.83[CHB][hapmap]
rs13393192	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs13397757	0.95[JPT][hapmap]
rs13404430	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs13423864	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs13424069	0.83[CHB][hapmap]
rs1515219	0.82[CHB][hapmap]
rs1546597	0.83[CHB][hapmap]
rs1546598	0.83[CHB][hapmap]
rs17366643	0.82[CHB][hapmap]
rs17366657	0.82[CHB][hapmap]
rs17463896	0.82[CHB][hapmap]
rs1868585	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1901010	0.82[CHB][hapmap]
rs2011812	0.82[CHB][hapmap]
rs2056103	0.83[CHB][hapmap]
rs2122383	0.83[CHB][hapmap]
rs2290156	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs3732103	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs3771106	0.83[CHB][hapmap]
rs4669700	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs4669702	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4669708	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs55859780	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6705170	0.82[CEU][hapmap];0.89[JPT][hapmap]
rs6728627	0.83[CHB][hapmap]
rs6736194	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6739310	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6744083	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6753921	0.82[CHB][hapmap]
rs6759032	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs726843	0.83[CHB][hapmap]
rs7589152	0.83[CHB][hapmap]
rs7589459	0.95[ASN][1000 genomes]
rs7598032	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs7605784	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7605793	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8996	0.82[CHB][hapmap]
rs978906	0.82[CHB][hapmap]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6743710	ROCK2	cis	multi-tissue	Pritchard
rs6743710	ROCK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 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	chr2:11498200-11502000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:11498200-11505200	Weak transcription	Spleen	Spleen
5	chr2:11498200-11505400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:11498200-11505400	Weak transcription	Liver	Liver
7	chr2:11498200-11505600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:11498200-11507400	Weak transcription	Small Intestine	intestine
9	chr2:11498200-11508000	Weak transcription	Right Atrium	heart
10	chr2:11498800-11505400	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:11498800-11505400	Weak transcription	Placenta	Placenta
12	chr2:11498800-11505600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:11499800-11502800	Weak transcription	A549	lung
14	chr2:11499800-11503000	Weak transcription	Hela-S3	cervix
15	chr2:11500000-11505200	Weak transcription	Fetal Stomach	stomach
16	chr2:11500000-11505400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:11500000-11505600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:11500000-11507600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:11500200-11502600	Weak transcription	Fetal Intestine Small	intestine
20	chr2:11500200-11503000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:11500200-11505600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:11500200-11507600	Weak transcription	Brain Germinal Matrix	brain
23	chr2:11500400-11503800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:11500400-11507400	Weak transcription	Fetal Lung	lung
25	chr2:11500600-11502200	Enhancers	HepG2	liver
26	chr2:11500600-11502400	Weak transcription	Fetal Intestine Large	intestine

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