Variant report

Variant	rs7956818
Chromosome Location	chr12:25289010-25289011
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10505959	0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10771169	0.82[ASN][1000 genomes]
rs10771171	0.92[ASN][1000 genomes]
rs10771174	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs10771175	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10771176	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10842467	0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10842468	0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10842472	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842476	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10842478	0.87[ASN][1000 genomes]
rs10842483	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10842488	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10842490	0.84[ASN][1000 genomes]
rs10842491	0.84[ASN][1000 genomes]
rs10842493	0.87[AFR][1000 genomes]
rs10842495	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10842496	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs11047825	0.84[YRI][hapmap];0.88[AFR][1000 genomes]
rs11047843	0.93[AFR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11047849	0.92[AFR][1000 genomes]
rs11047852	0.92[ASN][1000 genomes]
rs11047858	0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11047862	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11047868	0.83[AFR][1000 genomes]
rs11047870	0.82[AFR][1000 genomes]
rs11047885	1.00[YRI][hapmap]
rs12227966	0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12228638	0.90[ASN][1000 genomes]
rs12367971	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17386824	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2220196	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2883030	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3924650	0.92[YRI][hapmap]
rs4313666	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4589388	0.90[ASN][1000 genomes]
rs55950027	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6487458	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133904	0.82[ASN][1000 genomes]
rs7134616	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7135130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298636	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs7303373	0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7308865	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs7309124	0.80[AFR][1000 genomes]
rs7960428	0.92[YRI][hapmap];0.88[AFR][1000 genomes]
rs7971062	0.90[ASN][1000 genomes]
rs7971288	0.90[ASN][1000 genomes]
rs7972632	0.81[ASN][1000 genomes]
rs7973365	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973623	1.00[YRI][hapmap]
rs7976145	0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7976254	0.81[ASN][1000 genomes]
rs7976355	0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs9634100	1.00[YRI][hapmap];0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469169	chr12:24692383-25357680	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv557775	chr12:24692383-25357680	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv932477	chr12:24705151-25346677	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1067577	chr12:24791283-25346677	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv529514	chr12:24791283-25346677	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv1041218	chr12:24972019-25304356	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv557796	chr12:25266203-25306458	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv515612	chr12:25272027-25341177	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv557797	chr12:25272027-25341177	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv898922	chr12:25274593-25408047	Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25286800-25304200	Weak transcription	Ovary	ovary
2	chr12:25288000-25289400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr12:25288000-25289400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:25288000-25289400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:25288000-25289600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:25288000-25289600	Enhancers	HMEC	breast
7	chr12:25288200-25289200	Enhancers	Esophagus	oesophagus
8	chr12:25288200-25289400	Enhancers	NHEK	skin
9	chr12:25288200-25289600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:25288400-25289200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:25288400-25289400	Enhancers	Placenta	Placenta
12	chr12:25288600-25289200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr12:25288800-25289400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr12:25288800-25289400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr12:25288800-25297400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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