Variant report

Variant	rs6997991
Chromosome Location	chr8:105478405-105478406
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:105468587..105471783-chr8:105476013..105478836,3	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10505059	1.00[EUR][1000 genomes]
rs10505061	1.00[EUR][1000 genomes]
rs11986052	1.00[EUR][1000 genomes]
rs1347780	1.00[EUR][1000 genomes]
rs16871487	1.00[EUR][1000 genomes]
rs16871494	1.00[EUR][1000 genomes]
rs16871501	1.00[EUR][1000 genomes]
rs16871528	1.00[EUR][1000 genomes]
rs16871529	1.00[EUR][1000 genomes]
rs16871532	1.00[EUR][1000 genomes]
rs16871542	1.00[EUR][1000 genomes]
rs16871547	1.00[EUR][1000 genomes]
rs16871570	1.00[EUR][1000 genomes]
rs16871573	1.00[EUR][1000 genomes]
rs16871574	1.00[EUR][1000 genomes]
rs16871583	1.00[EUR][1000 genomes]
rs16871604	1.00[EUR][1000 genomes]
rs16871610	1.00[EUR][1000 genomes]
rs16871627	1.00[EUR][1000 genomes]
rs16871629	1.00[EUR][1000 genomes]
rs16871659	1.00[EUR][1000 genomes]
rs4478539	1.00[EUR][1000 genomes]
rs4492340	1.00[EUR][1000 genomes]
rs56931258	0.89[AMR][1000 genomes]
rs58610142	1.00[EUR][1000 genomes]
rs59552566	1.00[EUR][1000 genomes]
rs59666618	1.00[EUR][1000 genomes]
rs6468931	1.00[EUR][1000 genomes]
rs6468936	1.00[EUR][1000 genomes]
rs6468938	1.00[EUR][1000 genomes]
rs6468942	1.00[EUR][1000 genomes]
rs6981436	1.00[EUR][1000 genomes]
rs6981448	1.00[EUR][1000 genomes]
rs6982444	1.00[EUR][1000 genomes]
rs6982693	1.00[EUR][1000 genomes]
rs6984085	1.00[EUR][1000 genomes]
rs6984951	1.00[EUR][1000 genomes]
rs6985345	1.00[EUR][1000 genomes]
rs6986854	1.00[EUR][1000 genomes]
rs6988703	1.00[EUR][1000 genomes]
rs6988869	1.00[EUR][1000 genomes]
rs6992140	1.00[EUR][1000 genomes]
rs6998138	1.00[EUR][1000 genomes]
rs7000469	1.00[EUR][1000 genomes]
rs7005906	1.00[EUR][1000 genomes]
rs7009946	1.00[EUR][1000 genomes]
rs7010175	1.00[EUR][1000 genomes]
rs73293241	1.00[EUR][1000 genomes]
rs73293264	1.00[EUR][1000 genomes]
rs73297124	1.00[EUR][1000 genomes]
rs73299103	1.00[EUR][1000 genomes]
rs73299117	1.00[EUR][1000 genomes]
rs73299119	1.00[EUR][1000 genomes]
rs73299120	1.00[EUR][1000 genomes]
rs73299126	1.00[EUR][1000 genomes]
rs7813227	1.00[EUR][1000 genomes]
rs7813553	1.00[EUR][1000 genomes]
rs7813838	1.00[EUR][1000 genomes]
rs7814211	1.00[EUR][1000 genomes]
rs7814284	1.00[EUR][1000 genomes]
rs7815131	1.00[EUR][1000 genomes]
rs7815196	1.00[EUR][1000 genomes]
rs7817448	1.00[EUR][1000 genomes]
rs7819974	1.00[EUR][1000 genomes]
rs7820450	1.00[EUR][1000 genomes]
rs7820552	1.00[EUR][1000 genomes]
rs7821042	1.00[EUR][1000 genomes]
rs7829983	1.00[EUR][1000 genomes]
rs7832076	1.00[EUR][1000 genomes]
rs7832455	1.00[EUR][1000 genomes]
rs7835029	1.00[EUR][1000 genomes]
rs7836110	1.00[EUR][1000 genomes]
rs7837072	1.00[EUR][1000 genomes]
rs7837076	1.00[EUR][1000 genomes]
rs7838122	1.00[EUR][1000 genomes]
rs7839019	1.00[EUR][1000 genomes]
rs7841549	1.00[EUR][1000 genomes]
rs7842135	1.00[EUR][1000 genomes]
rs9694695	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	esv3328158	chr8:105477801-105480349	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105469600-105478600	Weak transcription	Pancreas	Pancrea
2	chr8:105473400-105478800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:105477600-105478800	Bivalent/Poised TSS	Fetal Kidney	kidney
4	chr8:105477600-105479400	Active TSS	Liver	Liver
5	chr8:105478200-105478600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:105478200-105478600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:105478200-105478600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:105478400-105478800	Bivalent Enhancer	Fetal Stomach	stomach
9	chr8:105478400-105479000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
10	chr8:105478400-105479400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr8:105478400-105479600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr8:105478400-105479600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr8:105478400-105479600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr8:105478400-105479600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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