Variant report

Variant	rs7815251
Chromosome Location	chr8:20293870-20293871
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10088337	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10788702	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12056755	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12549482	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13254239	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13259264	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13259699	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13266471	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1476244	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1480345	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17092429	0.95[ASN][1000 genomes]
rs2410648	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28555490	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28585690	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28709038	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2898501	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35158123	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35565447	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4342621	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4351434	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4461916	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4922193	0.82[AMR][1000 genomes]
rs4922197	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4922201	0.92[ASN][1000 genomes]
rs4922202	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4922203	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4922204	0.92[ASN][1000 genomes]
rs4922205	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4922206	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6586913	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6586914	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7002005	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7016105	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7817914	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS 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	16 gene(s)	inside rSNPs	diseases
3	nsv831256	chr8:20162233-20300224	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2758152	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2759603	chr8:20228949-20514807	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv469890	chr8:20239114-20445136	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv482881	chr8:20239114-20445136	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7815251	HR	cis	parietal	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20291800-20294400	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr8:20291800-20296200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:20292000-20294000	Enhancers	Primary T cells fromperipheralblood	blood
4	chr8:20292000-20294200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr8:20292000-20296000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:20292400-20294000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:20292400-20294200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:20292400-20294200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:20292400-20294400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr8:20292400-20294400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr8:20292400-20295000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:20292400-20296000	Enhancers	Primary T cells from cord blood	blood
13	chr8:20292600-20294000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:20292600-20294200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr8:20292600-20294200	Enhancers	Stomach Mucosa	stomach
16	chr8:20292600-20294400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:20292600-20295200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr8:20292800-20295000	Enhancers	Fetal Brain Male	brain
19	chr8:20292800-20295400	Enhancers	Primary B cells from peripheral blood	blood
20	chr8:20293000-20294200	Enhancers	Gastric	stomach
21	chr8:20293000-20294400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:20293000-20294800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr8:20293000-20295000	Enhancers	Primary hematopoietic stem cells	blood
24	chr8:20293000-20295000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr8:20293000-20295000	Enhancers	HMEC	breast
26	chr8:20293000-20295200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr8:20293000-20295200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:20293000-20295200	Enhancers	Fetal Thymus	thymus
29	chr8:20293000-20295200	Enhancers	Stomach Smooth Muscle	stomach
30	chr8:20293200-20294200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:20293200-20294200	Enhancers	Esophagus	oesophagus
32	chr8:20293200-20294800	Enhancers	Brain Angular Gyrus	brain
33	chr8:20293200-20295600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr8:20293200-20297000	Weak transcription	Right Atrium	heart
35	chr8:20293400-20294000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:20293400-20294000	Weak transcription	Brain Hippocampus Middle	brain
37	chr8:20293400-20294000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr8:20293400-20294400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr8:20293400-20294400	Weak transcription	Brain Germinal Matrix	brain
40	chr8:20293400-20294400	Enhancers	Duodenum Mucosa	Duodenum
41	chr8:20293400-20294400	Weak transcription	Spleen	Spleen
42	chr8:20293400-20294600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr8:20293400-20294600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr8:20293400-20298400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:20293600-20294000	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr8:20293600-20294000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr8:20293600-20294000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr8:20293600-20294000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:20293600-20294200	Weak transcription	Fetal Brain Female	brain
50	chr8:20293600-20294600	Enhancers	H9 Cell Line	embryonic stem cell

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