Variant report

Variant	rs6736194
Chromosome Location	chr2:11500058-11500059
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11483149..11486489-chr2:11497401..11501170,3	MCF-7	breast:
2	chr2:11498130..11500885-chr2:11501118..11503134,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10167277	0.89[CHD][hapmap];0.95[JPT][hapmap]
rs10187981	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10189756	0.82[CEU][hapmap];0.87[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap]
rs10192483	0.83[CHB][hapmap]
rs10198045	0.82[CHB][hapmap]
rs10495582	0.83[CHB][hapmap]
rs10754958	0.83[CHB][hapmap]
rs10929727	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10929728	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap]
rs11676201	0.95[JPT][hapmap]
rs11680818	0.83[CHB][hapmap]
rs11890858	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11890982	0.97[ASN][1000 genomes]
rs11891012	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12463700	0.95[ASN][1000 genomes]
rs12467795	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12470004	0.83[CHB][hapmap]
rs12475086	0.83[CHB][hapmap]
rs12478098	0.83[CHB][hapmap]
rs12622447	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs12996399	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs13018466	0.82[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];0.98[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs13423864	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs13424069	0.83[CHB][hapmap]
rs1515219	0.83[CHB][hapmap]
rs1546597	0.83[CHB][hapmap]
rs1546598	0.83[CHB][hapmap]
rs17366643	0.83[CHB][hapmap]
rs17366657	0.82[CHB][hapmap]
rs17463896	0.83[CHB][hapmap]
rs1868585	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1901010	0.83[CHB][hapmap]
rs2011812	0.83[CHB][hapmap];0.80[GIH][hapmap]
rs2056103	0.83[CHB][hapmap]
rs2122383	0.83[CHB][hapmap]
rs2290156	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap]
rs3732103	0.81[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];0.81[JPT][hapmap]
rs3771106	0.83[CHB][hapmap]
rs4669700	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs4669702	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4669708	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs55859780	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705170	0.96[CEU][hapmap];0.80[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6728627	0.83[CHB][hapmap]
rs6739310	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6743710	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6744083	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6744332	0.80[EUR][1000 genomes]
rs6753921	0.83[CHB][hapmap]
rs6759032	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6759164	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6759299	0.80[EUR][1000 genomes]
rs726843	0.83[CHB][hapmap]
rs7589152	0.83[CHB][hapmap]
rs7589459	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7598032	0.95[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap]
rs7605784	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7605793	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8996	0.83[CHB][hapmap]
rs978906	0.83[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6736194	ROCK2	cis	parietal	SCAN
rs6736194	ROCK2	cis	cerebellum	SCAN
rs6736194	IAH1	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11492600-11500600	Enhancers	Fetal Intestine Large	intestine
2	chr2:11497600-11507400	Weak transcription	Fetal Brain Female	brain
3	chr2:11498000-11504400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:11498200-11502000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:11498200-11505200	Weak transcription	Spleen	Spleen
6	chr2:11498200-11505400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:11498200-11505400	Weak transcription	Liver	Liver
8	chr2:11498200-11505600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:11498200-11507400	Weak transcription	Small Intestine	intestine
10	chr2:11498200-11508000	Weak transcription	Right Atrium	heart
11	chr2:11498800-11500200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:11498800-11505400	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:11498800-11505400	Weak transcription	Placenta	Placenta
14	chr2:11498800-11505600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:11499400-11500200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:11499400-11500200	Enhancers	Adipose Nuclei	Adipose
17	chr2:11499400-11500200	Enhancers	Brain Germinal Matrix	brain
18	chr2:11499400-11500400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr2:11499600-11500200	Enhancers	Colon Smooth Muscle	Colon
20	chr2:11499600-11500400	Enhancers	Fetal Lung	lung
21	chr2:11499800-11502800	Weak transcription	A549	lung
22	chr2:11499800-11503000	Weak transcription	Hela-S3	cervix
23	chr2:11500000-11500200	Enhancers	Fetal Intestine Small	intestine
24	chr2:11500000-11500400	Transcr. at gene 5' and 3'	HepG2	liver
25	chr2:11500000-11505200	Weak transcription	Fetal Stomach	stomach
26	chr2:11500000-11505400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:11500000-11505600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:11500000-11507600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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