Variant report

Variant	rs7464476
Chromosome Location	chr8:9461433-9461434
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10094343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10104247	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11249930	0.92[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.81[MEX][hapmap];0.89[MKK][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11784181	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.89[MKK][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12335065	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12542420	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12544673	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12549064	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28437757	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28464158	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28610188	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28615758	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4240630	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4265191	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4416825	0.86[ASN][1000 genomes]
rs4427176	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4457339	0.83[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.87[MKK][hapmap];0.87[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4481595	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4560795	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4562329	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4573280	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4841178	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4841180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4841184	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62491543	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62491544	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62493907	0.87[ASN][1000 genomes]
rs62493909	0.85[ASN][1000 genomes]
rs62493910	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62493913	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6601341	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6982215	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6996829	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7464528	0.80[AMR][1000 genomes]
rs7821799	0.83[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7827278	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7829326	0.84[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs7833036	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv1797711	chr8:9456376-9462653	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9428200-9466200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:9435400-9465600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:9435400-9468400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:9435600-9472400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:9435800-9465400	Weak transcription	Lung	lung
6	chr8:9435800-9465600	Weak transcription	Pancreas	Pancrea
7	chr8:9435800-9472600	Weak transcription	HSMMtube	muscle
8	chr8:9437400-9468000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:9439400-9472400	Weak transcription	HSMM	muscle
10	chr8:9439600-9465600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr8:9440600-9465600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:9442600-9465400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr8:9447600-9465400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:9449200-9465600	Weak transcription	Ovary	ovary
15	chr8:9450200-9465600	Weak transcription	NHDF-Ad	bronchial
16	chr8:9450200-9470600	Weak transcription	NHLF	lung
17	chr8:9450200-9472200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:9450600-9469600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr8:9450600-9480200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr8:9450800-9462600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:9450800-9462800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr8:9450800-9464400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr8:9450800-9465400	Weak transcription	Left Ventricle	heart
24	chr8:9450800-9468400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr8:9450800-9471000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:9451200-9461800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr8:9453400-9465400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr8:9454600-9465600	Weak transcription	Psoas Muscle	Psoas
29	chr8:9454800-9466000	Weak transcription	Brain Angular Gyrus	brain
30	chr8:9455200-9462200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:9455400-9462600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:9455400-9470600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr8:9455400-9471800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:9457000-9465800	Weak transcription	Colon Smooth Muscle	Colon
35	chr8:9457000-9470400	Weak transcription	Small Intestine	intestine
36	chr8:9459000-9465400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr8:9459600-9462200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:9460000-9465800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr8:9460000-9469600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:9460200-9461600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:9460200-9462600	Weak transcription	Primary B cells from cord blood	blood
42	chr8:9460200-9470600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:9461000-9463000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
44	chr8:9461000-9470800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:9461000-9486400	Weak transcription	Fetal Intestine Small	intestine
46	chr8:9461200-9462000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:9461200-9463800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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