Variant report

Variant	rs12211611
Chromosome Location	chr6:57065443-57065444
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	chr6:57056646..57059928-chr6:57064718..57069003,5	K562	blood:
2	chr6:57063501..57066310-chr6:57079453..57081666,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1157713	0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs12190416	0.89[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs12190434	0.89[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12192711	1.00[ASN][1000 genomes]
rs12210597	0.82[CEU][hapmap];0.82[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2100305	0.80[ASN][1000 genomes]
rs2273921	0.89[CHB][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3734738	0.89[CHB][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3778515	0.89[CHB][hapmap];0.89[JPT][hapmap];1.00[ASN][1000 genomes]
rs3800019	0.80[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3996929	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3996933	0.80[ASN][1000 genomes]
rs3996937	0.82[ASN][1000 genomes]
rs4715646	0.80[ASN][1000 genomes]
rs6459180	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6913707	0.89[ASN][1000 genomes]
rs6926980	0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6928715	0.89[CHB][hapmap];0.89[JPT][hapmap];1.00[ASN][1000 genomes]
rs6929783	0.89[ASN][1000 genomes]
rs6936472	0.89[CHB][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs7743855	0.89[JPT][hapmap]
rs7744316	0.82[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7744824	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7753537	0.89[CHB][hapmap];0.89[JPT][hapmap];0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7753927	0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs7763570	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs8180538	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9349843	0.96[ASN][1000 genomes]
rs9367704	0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs9367708	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9370564	0.89[CHB][hapmap];0.89[JPT][hapmap];0.85[YRI][hapmap];0.96[ASN][1000 genomes]
rs9370565	0.90[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9382689	0.88[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9396259	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs952647	0.89[CHB][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs9885757	0.88[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3430228	chr6:56830972-57079281	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv462949	chr6:56973902-57098973	ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv603190	chr6:56973902-57098973	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12211611	BEND6	cis	Skin Sun Exposed Lower leg	GTEx
rs12211611	KIAA1586	Cis_1M	lymphoblastoid	RTeQTL
rs12211611	RAB23	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57038000-57081600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:57038400-57072800	Weak transcription	Pancreas	Pancrea
3	chr6:57038400-57079600	Weak transcription	Fetal Brain Female	brain
4	chr6:57039000-57086000	Weak transcription	Thymus	Thymus
5	chr6:57048200-57072200	Weak transcription	Fetal Brain Male	brain
6	chr6:57048400-57067200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr6:57048400-57067200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr6:57049000-57072600	Weak transcription	Psoas Muscle	Psoas
9	chr6:57049400-57085000	Weak transcription	Aorta	Aorta
10	chr6:57050800-57072600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr6:57054400-57067000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:57056600-57086000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:57057000-57067800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr6:57057200-57067000	Weak transcription	Fetal Kidney	kidney
15	chr6:57057200-57081200	Weak transcription	HMEC	breast
16	chr6:57057600-57081200	Weak transcription	Fetal Intestine Small	intestine
17	chr6:57057800-57071400	Weak transcription	Fetal Thymus	thymus
18	chr6:57058000-57066600	Weak transcription	Fetal Intestine Large	intestine
19	chr6:57058000-57074200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:57058000-57080800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:57058200-57066400	Weak transcription	Primary T cells from cord blood	blood
22	chr6:57058200-57072800	Weak transcription	K562	blood
23	chr6:57058200-57079200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:57058200-57085800	Weak transcription	Fetal Muscle Leg	muscle
25	chr6:57058400-57071400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:57058400-57072800	Weak transcription	GM12878-XiMat	blood
27	chr6:57058400-57078800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:57058600-57066200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:57058800-57070200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:57058800-57071200	Weak transcription	HUVEC	blood vessel
31	chr6:57058800-57081000	Weak transcription	NHEK	skin
32	chr6:57058800-57084000	Weak transcription	Dnd41	blood
33	chr6:57059200-57084000	Weak transcription	Hela-S3	cervix
34	chr6:57060600-57080600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:57061400-57070800	Weak transcription	Ovary	ovary
36	chr6:57061600-57079600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:57061800-57068400	Weak transcription	NHDF-Ad	bronchial
38	chr6:57062600-57084800	Weak transcription	HSMM	muscle
39	chr6:57063600-57067400	Enhancers	Colon Smooth Muscle	Colon
40	chr6:57063600-57067600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:57063800-57065800	Genic enhancers	Osteobl	bone
42	chr6:57064000-57071200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr6:57064200-57067200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:57064200-57068600	Weak transcription	Right Atrium	heart
45	chr6:57064200-57070200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr6:57064200-57077800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:57064400-57066600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:57064400-57066800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr6:57064400-57067200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr6:57064400-57070600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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