Variant report

Variant	rs11168318
Chromosome Location	chr12:48332529-48332530
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	chr12:48321390..48323315-chr12:48331086..48332682,3	MCF-7	breast:
2	chr12:48212555..48214576-chr12:48330977..48333958,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000061273	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10783221	1.00[CEU][hapmap];0.91[JPT][hapmap];0.85[TSI][hapmap];0.93[EUR][1000 genomes]
rs10875697	0.84[EUR][1000 genomes]
rs10875700	0.87[CEU][hapmap];0.82[CHD][hapmap];0.83[GIH][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs10875701	0.84[EUR][1000 genomes]
rs10875702	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs10875703	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10875704	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.94[GIH][hapmap];0.86[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10875705	0.81[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10875706	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10875707	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10875708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10875709	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168307	0.91[EUR][1000 genomes]
rs11168308	0.92[EUR][1000 genomes]
rs11168310	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11168311	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11168313	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11168314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168315	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168319	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168320	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11568820	0.87[CEU][hapmap];0.81[CHD][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs11829292	0.84[EUR][1000 genomes]
rs12306963	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12316950	0.93[EUR][1000 genomes]
rs12831006	0.81[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34381446	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4254129	0.84[EUR][1000 genomes]
rs4334089	0.82[CHB][hapmap]
rs4402365	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs4411326	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4442605	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs4454781	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs61920869	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61920870	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71439418	0.84[EUR][1000 genomes]
rs7300088	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7300301	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7303966	0.87[CEU][hapmap];0.90[CHD][hapmap];0.80[MEX][hapmap];0.91[TSI][hapmap];0.90[EUR][1000 genomes]
rs7305180	0.84[CHD][hapmap]
rs7308216	0.91[EUR][1000 genomes]
rs7975675	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7976091	0.82[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	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11168318	ASB8	cis	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48328400-48337800	Enhancers	Fetal Heart	heart
2	chr12:48329400-48335200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:48329800-48332800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr12:48331200-48332600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:48331200-48333000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:48331200-48333800	Enhancers	Hela-S3	cervix
7	chr12:48331600-48332600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:48331600-48332600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr12:48331600-48332600	Enhancers	NHDF-Ad	bronchial
10	chr12:48331800-48332600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:48331800-48332600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:48331800-48332800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:48331800-48332800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:48331800-48333000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:48331800-48334600	Enhancers	Duodenum Mucosa	Duodenum
16	chr12:48332000-48332800	Enhancers	NHEK	skin
17	chr12:48332000-48334200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr12:48332000-48334200	Enhancers	HSMMtube	muscle
19	chr12:48332200-48332800	Enhancers	HMEC	breast
20	chr12:48332200-48333000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:48332200-48333400	Enhancers	Placenta	Placenta
22	chr12:48332200-48333400	Enhancers	Left Ventricle	heart
23	chr12:48332200-48333600	Enhancers	Small Intestine	intestine
24	chr12:48332400-48332600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:48332400-48332600	Enhancers	Colonic Mucosa	Colon
26	chr12:48332400-48332600	Flanking Active TSS	HSMM	muscle
27	chr12:48332400-48332800	Enhancers	Right Atrium	heart
28	chr12:48332400-48332800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr12:48332400-48333000	Enhancers	Right Ventricle	heart
30	chr12:48332400-48333400	Enhancers	Fetal Muscle Trunk	muscle
31	chr12:48332400-48333400	Enhancers	Fetal Muscle Leg	muscle
32	chr12:48332400-48333400	Enhancers	Spleen	Spleen
33	chr12:48332400-48334200	Enhancers	Rectal Mucosa Donor 29	rectum

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