Variant report

Variant	rs1012511
Chromosome Location	chr6:11708416-11708417
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	chr6:11707605..11709932-chr6:11714222..11716200,2	K562	blood:
2	chr6:11704392..11707213-chr6:11707810..11709507,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1012512	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2327459	1.00[YRI][hapmap]

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	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
3	nsv428470	chr6:11686198-11747850	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11688800-11711000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:11701800-11713000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:11703200-11711200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:11703200-11711400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr6:11703200-11711400	Weak transcription	HSMM	muscle
6	chr6:11703400-11710400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr6:11703400-11710400	Weak transcription	Spleen	Spleen
8	chr6:11703600-11712600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:11703800-11711200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr6:11704200-11714800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:11705400-11710400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr6:11705800-11712000	Weak transcription	Adipose Nuclei	Adipose
13	chr6:11706600-11712000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:11707200-11711600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:11707400-11708600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr6:11708000-11710800	Enhancers	Fetal Muscle Leg	muscle
17	chr6:11708200-11709000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr6:11708200-11710200	Weak transcription	Lung	lung
19	chr6:11708200-11714800	Enhancers	Primary T cells fromperipheralblood	blood
20	chr6:11708400-11709200	Enhancers	HSMMtube	muscle
21	chr6:11708400-11710000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr6:11708400-11710600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr6:11708400-11716800	Enhancers	Primary T helper cells fromperipheralblood	blood

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