Variant report

Variant	rs1014972
Chromosome Location	chr6:11815590-11815591
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	chr6:11810352..11813130-chr6:11814458..11816806,2	K562	blood:
2	chr6:11809930..11813130-chr6:11813713..11816806,3	K562	blood:

Variant related genes	Relation type
ENSG00000234427	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10947579	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs1569731	0.88[ASN][1000 genomes]
rs1569735	0.89[ASN][1000 genomes]
rs16871833	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs1883324	0.80[CEU][hapmap];0.81[CHB][hapmap];0.95[EUR][1000 genomes]
rs1883325	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs1883326	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2143715	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2179742	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3950186	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4308554	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4310046	0.88[ASN][1000 genomes]
rs4404760	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4557506	0.88[ASN][1000 genomes]
rs4634440	0.89[ASN][1000 genomes]
rs6899747	0.90[ASN][1000 genomes]
rs6910363	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6936286	0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6941812	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs6942235	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs7739256	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7743245	0.85[CEU][hapmap];0.81[CHB][hapmap]
rs7766152	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9470184	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470216	0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs978565	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	esv2758036	chr6:11679753-11822351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759407	chr6:11679753-11822351	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11807600-11816400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr6:11810800-11815600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:11812000-11815800	Enhancers	GM12878-XiMat	blood
4	chr6:11813400-11816400	Enhancers	Fetal Intestine Large	intestine
5	chr6:11814000-11816400	Enhancers	Fetal Intestine Small	intestine
6	chr6:11814200-11816400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:11814400-11815800	Enhancers	Duodenum Mucosa	Duodenum
8	chr6:11814800-11816200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:11815000-11816200	Flanking Active TSS	A549	lung
10	chr6:11815000-11816200	Enhancers	HMEC	breast
11	chr6:11815000-11816400	Enhancers	HSMMtube	muscle
12	chr6:11815000-11818000	Weak transcription	Fetal Thymus	thymus
13	chr6:11815200-11815600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:11815200-11815800	Enhancers	Hela-S3	cervix
15	chr6:11815200-11815800	Flanking Active TSS	NHEK	skin
16	chr6:11815200-11816400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:11815200-11816400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr6:11815200-11816400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:11815400-11815600	Enhancers	Pancreas	Pancrea
20	chr6:11815400-11816000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:11815400-11816200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:11815400-11816200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:11815400-11816200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:11815400-11816200	Enhancers	Fetal Stomach	stomach
25	chr6:11815400-11816200	Enhancers	NH-A	brain
26	chr6:11815400-11816200	Enhancers	NHDF-Ad	bronchial
27	chr6:11815400-11816400	Enhancers	HSMM	muscle
28	chr6:11815400-11816400	Enhancers	Osteobl	bone

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