Variant report

Variant	rs9297619
Chromosome Location	chr8:121486213-121486214
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10098436	0.96[ASN][1000 genomes]
rs10109431	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10955971	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1129080	0.91[ASN][1000 genomes]
rs1129353	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11780830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11781786	0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12545308	0.91[ASN][1000 genomes]
rs12546007	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12674727	0.99[ASN][1000 genomes]
rs12675235	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12676755	0.96[ASN][1000 genomes]
rs12678531	1.00[ASN][1000 genomes]
rs12678788	0.98[ASN][1000 genomes]
rs12680641	0.96[ASN][1000 genomes]
rs13252173	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13263962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16893976	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2429	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4242313	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4448321	0.93[ASN][1000 genomes]
rs4452825	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4463470	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4565499	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4573322	0.93[ASN][1000 genomes]
rs4590476	0.91[ASN][1000 genomes]
rs4871067	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61203971	0.98[ASN][1000 genomes]
rs61424477	0.87[ASN][1000 genomes]
rs6415474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469920	0.89[ASN][1000 genomes]
rs6469921	0.89[ASN][1000 genomes]
rs6984090	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6985660	0.98[ASN][1000 genomes]
rs7002445	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7008993	0.88[AFR][1000 genomes]
rs7015443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73315165	0.98[ASN][1000 genomes]
rs73315171	0.98[ASN][1000 genomes]
rs73315174	1.00[ASN][1000 genomes]
rs73315182	1.00[ASN][1000 genomes]
rs7812590	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7814949	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7818026	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7819405	0.91[ASN][1000 genomes]
rs7826906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832933	0.98[ASN][1000 genomes]
rs7834496	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7835198	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7835363	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9650081	0.93[ASN][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	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1033386	chr8:121369943-121501239	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv470235	chr8:121437222-121526747	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv519152	chr8:121458457-121571266	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121458000-121510400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:121458200-121505200	Weak transcription	Placenta	Placenta
3	chr8:121458400-121488000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:121458400-121490200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:121458400-121501000	Weak transcription	Ovary	ovary
6	chr8:121458600-121487200	Weak transcription	Fetal Brain Female	brain
7	chr8:121458600-121504200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr8:121458600-121516400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr8:121458800-121489000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:121458800-121491000	Weak transcription	HMEC	breast
11	chr8:121458800-121504000	Weak transcription	Fetal Heart	heart
12	chr8:121458800-121510200	Weak transcription	Brain Germinal Matrix	brain
13	chr8:121458800-121510400	Weak transcription	NHLF	lung
14	chr8:121458800-121539000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:121459000-121528600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:121461000-121491000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr8:121467000-121488000	Weak transcription	HSMM	muscle
18	chr8:121468600-121501800	Weak transcription	HUVEC	blood vessel
19	chr8:121469200-121515200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:121470000-121502400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:121470400-121491000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:121470600-121490400	Weak transcription	Liver	Liver
23	chr8:121474600-121488200	Weak transcription	Fetal Lung	lung
24	chr8:121474600-121553600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr8:121477800-121503800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:121478200-121488200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:121478400-121486400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:121478600-121486800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:121479200-121487400	Strong transcription	Dnd41	blood
30	chr8:121479600-121487200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr8:121480000-121501000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr8:121480800-121487600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr8:121481200-121487400	Weak transcription	Fetal Muscle Leg	muscle
34	chr8:121481200-121491000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:121481400-121486400	Weak transcription	Fetal Intestine Large	intestine
36	chr8:121481800-121486600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:121481800-121488800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:121481800-121501600	Weak transcription	Fetal Stomach	stomach
39	chr8:121482600-121503800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:121482800-121486800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:121483000-121487800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr8:121483200-121487000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:121483400-121501600	Weak transcription	Primary B cells from cord blood	blood
44	chr8:121484200-121488000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr8:121484400-121541800	Weak transcription	Left Ventricle	heart
46	chr8:121484600-121487400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
47	chr8:121485000-121487400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr8:121485000-121488000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr8:121485000-121488400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr8:121485400-121486800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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