Variant report

Variant	rs7094891
Chromosome Location	chr10:5332901-5332902
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr10:5332895-5334785	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:5327837..5330329-chr10:5330922..5333846,2	K562	blood:
2	chr10:5325782..5327303-chr10:5331354..5334117,2	K562	blood:

Variant related genes	Relation type
AKR1C7P	TF binding region
ENSG00000215267	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1987511	0.82[JPT][hapmap]
rs2011131	0.96[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2398236	0.96[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2398237	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2895073	1.00[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4881429	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7076488	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7896356	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7916880	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9423403	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs9423593	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs9423596	0.94[CHB][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9423597	0.85[CEU][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	nsv1039386	chr10:5008383-5348491	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1036291	chr10:5076258-5456234	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv932104	chr10:5203626-5641023	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv549886	chr10:5205437-5632060	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv1054865	chr10:5225305-5638119	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
8	nsv466715	chr10:5285597-5348491	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv466717	chr10:5285597-5348491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv549888	chr10:5285597-5348491	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv894795	chr10:5286600-5348491	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv894796	chr10:5300976-5348491	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7094891	RP11-445P17.8	cis	Whole Blood	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5326000-5333600	Weak transcription	Esophagus	oesophagus
2	chr10:5326000-5336000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr10:5326600-5333000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr10:5326600-5333400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr10:5326600-5334200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:5326600-5337200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr10:5328000-5333200	Weak transcription	HUVEC	blood vessel
8	chr10:5328000-5333400	Weak transcription	Placenta	Placenta
9	chr10:5331000-5333200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr10:5331600-5333200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr10:5331600-5333200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr10:5331800-5333000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr10:5331800-5333400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr10:5331800-5333400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr10:5332000-5333400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr10:5332200-5333200	Enhancers	Primary T cells fromperipheralblood	blood
17	chr10:5332200-5333400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr10:5332200-5333400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr10:5332200-5334000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr10:5332400-5333200	Enhancers	Dnd41	blood
21	chr10:5332400-5333400	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr10:5332400-5333400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr10:5332400-5333600	Enhancers	NHDF-Ad	bronchial
24	chr10:5332400-5334000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr10:5332600-5333200	Enhancers	Primary T cells from cord blood	blood
26	chr10:5332600-5333400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr10:5332600-5334600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr10:5332600-5334600	Flanking Active TSS	A549	lung
29	chr10:5332800-5333000	Enhancers	Small Intestine	intestine
30	chr10:5332800-5334600	Enhancers	Primary hematopoietic stem cells	blood
31	chr10:5332800-5336600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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