Variant report

Variant	rs7076488
Chromosome Location	chr10:5333008-5333009
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
2	EP300	chr10:5332971-5334476	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: 26 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1987511	0.88[JPT][hapmap]
rs2011131	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2398236	0.86[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2398237	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2895073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4881429	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7094891	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]
rs7098485	0.83[JPT][hapmap]
rs7896356	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7916880	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9423403	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs9423593	0.88[CEU][hapmap];0.83[GIH][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs9423596	1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9423597	0.83[CEU][hapmap];0.80[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
rs7076488	RP11-445P17.8	cis	Whole Blood	GTEx

Chromatin state (count:38 , 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	chr10:5326600-5333400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:5326600-5334200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:5326600-5337200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr10:5328000-5333200	Weak transcription	HUVEC	blood vessel
7	chr10:5328000-5333400	Weak transcription	Placenta	Placenta
8	chr10:5331000-5333200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr10:5331600-5333200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr10:5331600-5333200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr10:5331800-5333400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr10:5331800-5333400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr10:5332000-5333400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr10:5332200-5333200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr10:5332200-5333400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr10:5332200-5333400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr10:5332200-5334000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr10:5332400-5333200	Enhancers	Dnd41	blood
19	chr10:5332400-5333400	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr10:5332400-5333400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr10:5332400-5333600	Enhancers	NHDF-Ad	bronchial
22	chr10:5332400-5334000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr10:5332600-5333200	Enhancers	Primary T cells from cord blood	blood
24	chr10:5332600-5333400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr10:5332600-5334600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr10:5332600-5334600	Flanking Active TSS	A549	lung
27	chr10:5332800-5334600	Enhancers	Primary hematopoietic stem cells	blood
28	chr10:5332800-5336600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr10:5333000-5333200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr10:5333000-5333400	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr10:5333000-5333400	Enhancers	Hela-S3	cervix
32	chr10:5333000-5333600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr10:5333000-5333600	Enhancers	HepG2	liver
34	chr10:5333000-5334000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr10:5333000-5334000	Weak transcription	Small Intestine	intestine
36	chr10:5333000-5334200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr10:5333000-5334600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr10:5333000-5336600	Enhancers	HMEC	breast

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