Variant report

Variant	rs10505453
Chromosome Location	chr8:126344893-126344894
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126343351..126345120-chr8:126444427..126447046,2	K562	blood:
2	chr8:126344683..126349065-chr8:126441599..126445443,4	MCF-7	breast:
3	chr8:126342278..126347810-chr8:126440203..126444121,7	K562	blood:
4	chr8:126341644..126344065-chr8:126344220..126347316,3	K562	blood:
5	chr8:126339856..126342634-chr8:126343461..126345353,2	MCF-7	breast:
6	chr8:126344782..126348434-chr8:126350693..126355502,7	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10094181	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10100121	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10100566	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10104659	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10105854	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10106359	0.89[CHB][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10216374	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10216768	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10956239	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10956240	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10956241	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10956242	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11774053	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11775165	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11776254	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11777625	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11778683	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11778726	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11782629	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11997581	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12549738	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12680560	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13254815	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13255114	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13259646	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13261579	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13261587	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13274361	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2293890	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2385092	0.82[JPT][hapmap]
rs2385100	0.93[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.84[YRI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2891677	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2891678	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4466418	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4870936	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4870937	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871582	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871590	0.81[EUR][1000 genomes]
rs6470350	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6986059	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6986712	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6989275	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6989383	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6990622	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7004739	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7004753	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7010240	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7010394	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7015753	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7815471	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7822592	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9297716	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[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	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv891436	chr8:126283766-126345076	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3410448	chr8:126339813-126418053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126318600-126354600	Weak transcription	Ovary	ovary
2	chr8:126322000-126374200	Weak transcription	Aorta	Aorta
3	chr8:126324200-126354200	Weak transcription	Hela-S3	cervix
4	chr8:126330800-126369200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr8:126331200-126357400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:126332400-126345600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:126332600-126369400	Weak transcription	Fetal Stomach	stomach
8	chr8:126333000-126354200	Weak transcription	Fetal Lung	lung
9	chr8:126335600-126346000	Weak transcription	Fetal Intestine Small	intestine
10	chr8:126335600-126353200	Weak transcription	Primary B cells from cord blood	blood
11	chr8:126336600-126354200	Weak transcription	Spleen	Spleen
12	chr8:126339400-126346200	Weak transcription	Thymus	Thymus
13	chr8:126340000-126354200	Weak transcription	Esophagus	oesophagus
14	chr8:126340000-126359600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr8:126340800-126346200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:126340800-126347400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr8:126341200-126346200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr8:126341400-126346000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:126341400-126346000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr8:126341400-126346200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:126341400-126346600	Weak transcription	Right Atrium	heart
22	chr8:126341600-126345000	Weak transcription	NHDF-Ad	bronchial
23	chr8:126341600-126345400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:126341600-126345400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr8:126341600-126346000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:126341600-126346000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:126341600-126346000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:126341600-126346000	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:126341600-126346000	Weak transcription	HSMM	muscle
30	chr8:126341600-126346200	Weak transcription	NHLF	lung
31	chr8:126341600-126346400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr8:126341600-126354200	Weak transcription	Lung	lung
33	chr8:126341800-126346200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr8:126342000-126345200	Weak transcription	HSMMtube	muscle
35	chr8:126342000-126346000	Weak transcription	Fetal Thymus	thymus
36	chr8:126342000-126346200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr8:126342000-126346600	Weak transcription	Left Ventricle	heart
38	chr8:126342000-126369400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:126342400-126355000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:126342800-126345200	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr8:126343000-126346200	Weak transcription	Brain Substantia Nigra	brain
42	chr8:126343200-126346000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr8:126343400-126346000	Enhancers	K562	blood
44	chr8:126343800-126345000	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr8:126343800-126345400	Enhancers	Fetal Heart	heart
46	chr8:126344000-126345200	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr8:126344000-126346200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:126344000-126347800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr8:126344200-126345000	Weak transcription	GM12878-XiMat	blood
50	chr8:126344400-126345600	Enhancers	Adipose Nuclei	Adipose

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