Variant report

Variant	rs7749712
Chromosome Location	chr6:11787517-11787518
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1018383	1.00[CEU][hapmap];0.96[CHB][hapmap];0.96[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10947559	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11966074	0.93[CEU][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2056952	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2235384	0.93[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60675252	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6457838	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6457840	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457841	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6913633	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6940263	1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[JPT][hapmap];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7753407	1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7763031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470068	1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][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	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	esv12435	chr6:11786468-11791797	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11774000-11791600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:11779800-11787800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:11786000-11791400	Weak transcription	NHEK	skin
4	chr6:11786200-11788600	Enhancers	Fetal Thymus	thymus
5	chr6:11786200-11790600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:11786200-11790800	Weak transcription	HMEC	breast
7	chr6:11786400-11787800	Enhancers	Dnd41	blood
8	chr6:11786600-11788800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:11786600-11790400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:11786800-11788200	Weak transcription	K562	blood
11	chr6:11786800-11790600	Weak transcription	Lung	lung
12	chr6:11787000-11788800	Enhancers	GM12878-XiMat	blood
13	chr6:11787000-11790600	Weak transcription	Fetal Intestine Small	intestine
14	chr6:11787000-11791400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:11787200-11789600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:11787400-11787600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:11787400-11790800	Weak transcription	Fetal Intestine Large	intestine

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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