Variant report

Variant	rs7013171
Chromosome Location	chr8:8802780-8802781
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10096850	0.90[ASN][1000 genomes]
rs12549501	1.00[CEU][hapmap]
rs17154955	1.00[AFR][1000 genomes]
rs17154958	1.00[AFR][1000 genomes]
rs17154970	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs55653709	1.00[AFR][1000 genomes]
rs55774328	1.00[AFR][1000 genomes]
rs56675832	1.00[AFR][1000 genomes]
rs57528061	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs58504719	1.00[AFR][1000 genomes]
rs61293336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6999615	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73662211	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs73662212	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs73662213	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs73662215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73662217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73662220	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73662221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7845167	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1017388	chr8:8759494-8826714	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1017238	chr8:8760138-8831662	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1026913	chr8:8773659-8838256	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv610205	chr8:8799111-8891644	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8781200-8815200	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr8:8781600-8816600	Weak transcription	Primary T cells from cord blood	blood
3	chr8:8786200-8820600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:8793400-8804200	Weak transcription	Right Atrium	heart
5	chr8:8794200-8807200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:8796600-8803200	Weak transcription	Fetal Intestine Large	intestine
7	chr8:8796800-8819600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr8:8798800-8804400	Weak transcription	HepG2	liver
9	chr8:8800000-8804200	Weak transcription	Placenta	Placenta
10	chr8:8800000-8804400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:8800000-8804400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:8800200-8802800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr8:8800200-8804200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:8800200-8810000	Weak transcription	Fetal Brain Male	brain
15	chr8:8800400-8804600	Weak transcription	K562	blood
16	chr8:8800400-8805600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr8:8800400-8806000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr8:8800400-8813200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:8800600-8804400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:8800600-8804400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:8800600-8804600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr8:8800800-8804400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr8:8801800-8804200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:8802600-8802800	Enhancers	Small Intestine	intestine
25	chr8:8802600-8803200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:8802600-8803400	Enhancers	Stomach Mucosa	stomach
27	chr8:8802600-8805800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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