Variant report

Variant	rs7978026
Chromosome Location	chr12:29581702-29581703
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	chr12:29581032..29583088-chr12:29583675..29586348,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10161540	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10219521	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10219541	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050231	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11050232	0.94[EUR][1000 genomes]
rs11050234	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11050237	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050242	0.93[CEU][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes]
rs11050243	0.93[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes]
rs11050247	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11609415	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11610542	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11610605	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611065	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11611499	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11614232	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11614288	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11614744	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11829375	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11831164	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11831165	0.93[CEU][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes]
rs11833098	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838057	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1369899	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1436314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2042512	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288127	0.88[CHB][hapmap]
rs2350531	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs28560462	0.82[ASN][1000 genomes]
rs34137040	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35198374	0.82[ASN][1000 genomes]
rs35494573	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3741751	0.86[JPT][hapmap];0.91[EUR][1000 genomes]
rs3764951	0.88[CHB][hapmap]
rs3782512	0.86[CHB][hapmap]
rs4280037	0.86[CHB][hapmap]
rs56179940	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56241141	0.82[ASN][1000 genomes]
rs56808425	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs58171188	0.91[EUR][1000 genomes]
rs58359809	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59273552	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6487820	0.95[ASN][1000 genomes]
rs6487826	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6487827	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7138160	0.86[CHB][hapmap]
rs7138552	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7294517	0.88[CHB][hapmap]
rs7295922	0.87[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7296302	0.93[CEU][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes]
rs7296554	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7297234	0.82[ASN][1000 genomes]
rs7297659	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301354	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302425	0.93[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7302549	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7302700	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7306407	0.93[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes]
rs7309876	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7311051	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7311329	0.89[EUR][1000 genomes]
rs7312547	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7312776	1.00[ASN][1000 genomes]
rs7313103	0.91[EUR][1000 genomes]
rs7313307	0.82[ASN][1000 genomes]
rs73276833	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73278706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73278726	0.93[EUR][1000 genomes]
rs73278734	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73278736	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73278740	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7489238	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7953181	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7953237	0.93[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes]
rs7954043	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7963197	0.92[EUR][1000 genomes]
rs7964648	0.93[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes]
rs7964728	0.93[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes]
rs7964979	0.93[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap];0.91[EUR][1000 genomes]
rs7965132	0.93[CEU][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes]
rs7965185	0.92[CEU][hapmap];0.82[JPT][hapmap];0.91[EUR][1000 genomes]
rs7975356	0.93[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.89[EUR][1000 genomes]
rs7977826	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs878837	0.93[CEU][hapmap];0.88[CHB][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes]
rs880267	0.85[JPT][hapmap];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv898952	chr12:29565537-29617550	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv525100	chr12:29576517-29585955	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29571000-29583400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:29578000-29583200	Enhancers	Hela-S3	cervix
3	chr12:29579800-29583800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:29580000-29583400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr12:29580400-29582000	Enhancers	GM12878-XiMat	blood
6	chr12:29580800-29581800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:29580800-29582200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr12:29581200-29581800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:29581200-29581800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr12:29581200-29582400	Enhancers	HMEC	breast
11	chr12:29581200-29583800	Enhancers	Duodenum Mucosa	Duodenum
12	chr12:29581400-29581800	Enhancers	HUVEC	blood vessel
13	chr12:29581400-29582000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:29581400-29582400	Enhancers	NHEK	skin
15	chr12:29581400-29582600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:29581400-29584000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:29581600-29581800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:29581600-29581800	Enhancers	Liver	Liver
19	chr12:29581600-29583200	Weak transcription	K562	blood
20	chr12:29581600-29604200	Weak transcription	HSMMtube	muscle

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