Variant report

Variant	rs10771174
Chromosome Location	chr12:25307571-25307572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:25102240..25104571-chr12:25306808..25309937,3	K562	blood:

Variant related genes	Relation type
ENSG00000060982	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10505959	0.89[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.80[AFR][1000 genomes]
rs10505960	0.89[ASN][1000 genomes]
rs10771175	0.89[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs10771176	0.89[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs10771177	0.92[ASN][1000 genomes]
rs10842467	0.80[AFR][1000 genomes]
rs10842468	0.90[JPT][hapmap];0.80[AFR][1000 genomes]
rs10842470	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs10842472	0.80[AFR][1000 genomes]
rs10842473	0.89[ASN][1000 genomes]
rs10842475	0.89[ASN][1000 genomes]
rs10842476	0.87[AFR][1000 genomes]
rs10842483	0.85[AFR][1000 genomes]
rs10842490	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs10842492	0.94[ASN][1000 genomes]
rs10842493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842494	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842495	0.93[AFR][1000 genomes]
rs10842496	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842515	0.81[JPT][hapmap]
rs11047825	0.83[YRI][hapmap];0.82[AFR][1000 genomes]
rs11047843	0.80[AFR][1000 genomes]
rs11047849	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11047854	0.88[ASN][1000 genomes]
rs11047855	0.89[ASN][1000 genomes]
rs11047856	0.89[ASN][1000 genomes]
rs11047858	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs11047862	0.83[AFR][1000 genomes]
rs11047865	0.93[ASN][1000 genomes]
rs11047868	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11047870	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11047885	0.86[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap]
rs11047912	0.81[JPT][hapmap]
rs11513449	0.89[ASN][1000 genomes]
rs12227966	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs12228638	0.89[CHB][hapmap]
rs12367971	0.89[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs12424685	0.88[ASN][1000 genomes]
rs12425900	1.00[JPT][hapmap]
rs12581134	0.85[ASN][1000 genomes]
rs12581706	0.80[ASN][1000 genomes]
rs12814442	0.92[ASN][1000 genomes]
rs12818169	0.89[ASN][1000 genomes]
rs12828609	0.89[ASN][1000 genomes]
rs12830058	0.94[ASN][1000 genomes]
rs12830336	0.94[ASN][1000 genomes]
rs1497253	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs17386824	0.80[AFR][1000 genomes]
rs17388587	0.81[JPT][hapmap]
rs17389103	0.81[JPT][hapmap]
rs2220196	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2291365	0.90[ASN][1000 genomes]
rs2352782	0.89[ASN][1000 genomes]
rs2352784	0.87[ASN][1000 genomes]
rs2883030	0.87[AFR][1000 genomes]
rs34898174	0.83[ASN][1000 genomes]
rs3924650	0.89[CHB][hapmap];0.92[YRI][hapmap]
rs4313666	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs4368021	0.81[JPT][hapmap]
rs4559767	0.88[ASN][1000 genomes]
rs4963850	0.88[ASN][1000 genomes]
rs4963859	0.82[JPT][hapmap]
rs61020746	0.87[ASN][1000 genomes]
rs6487456	0.81[ASN][1000 genomes]
rs6487458	0.80[AFR][1000 genomes]
rs7134616	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs7135130	0.87[AFR][1000 genomes]
rs7297103	0.81[ASN][1000 genomes]
rs7298636	0.83[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7303094	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7303373	0.90[CHB][hapmap];0.83[JPT][hapmap];0.81[YRI][hapmap]
rs7303669	0.89[CHB][hapmap]
rs7306769	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7308865	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7309124	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7315339	0.81[JPT][hapmap]
rs7956818	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs7960428	0.91[YRI][hapmap];0.82[AFR][1000 genomes]
rs7960917	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs7971288	0.89[CHB][hapmap]
rs7973365	0.87[AFR][1000 genomes]
rs7973450	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs7973623	1.00[YRI][hapmap]
rs7975271	0.89[CHB][hapmap]
rs7976145	0.80[AFR][1000 genomes]
rs7976254	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs7976355	0.80[AFR][1000 genomes]
rs7980769	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs9634100	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
7	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
8	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25304600-25315600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:25305000-25308000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:25305200-25307600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:25305200-25307800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:25305200-25307800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:25305200-25307800	Weak transcription	NHDF-Ad	bronchial
7	chr12:25305200-25308000	Weak transcription	A549	lung
8	chr12:25305200-25308200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:25305400-25307800	Weak transcription	NHEK	skin
10	chr12:25305400-25308000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr12:25305400-25308000	Weak transcription	Fetal Lung	lung
12	chr12:25305400-25308000	Weak transcription	Hela-S3	cervix
13	chr12:25305600-25308000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:25305800-25307800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:25305800-25308000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:25305800-25308000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:25306800-25307600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:25307000-25307600	Enhancers	GM12878-XiMat	blood
19	chr12:25307200-25311600	Enhancers	Primary B cells from cord blood	blood
20	chr12:25307200-25312200	Enhancers	Primary B cells from peripheral blood	blood
21	chr12:25307400-25308600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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