Variant report

Variant	rs2802693
Chromosome Location	chr6:69360603-69360604
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:69358462..69361443-chr6:69362578..69364928,4	K562	blood:
2	chr6:69355292..69359376-chr6:69359699..69365505,6	K562	blood:
3	chr6:69346849..69353858-chr6:69356877..69365508,11	K562	blood:
4	chr6:69360582..69362510-chr6:71104396..71107206,2	K562	blood:
5	chr6:69359484..69364655-chr6:69364836..69370262,9	K562	blood:
6	chr6:69359830..69361786-chr6:69366952..69369781,2	K562	blood:
7	chr6:69349831..69353456-chr6:69358636..69362534,5	K562	blood:

Variant related genes	Relation type
ENSG00000237643	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1033520	0.93[CHD][hapmap];0.95[JPT][hapmap]
rs10484791	0.91[GIH][hapmap];0.84[JPT][hapmap]
rs10945138	0.85[CEU][hapmap];0.89[JPT][hapmap]
rs10945139	0.84[JPT][hapmap]
rs11752398	0.89[JPT][hapmap]
rs11752837	0.89[JPT][hapmap]
rs12154008	0.84[JPT][hapmap]
rs12201488	0.89[JPT][hapmap]
rs13218712	0.88[JPT][hapmap]
rs2246093	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2246104	0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2253759	0.88[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.86[MEX][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs2253866	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2254654	0.88[ASW][hapmap];0.85[CEU][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];0.83[TSI][hapmap];0.81[YRI][hapmap]
rs2585592	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs2585597	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2585598	0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap]
rs2585599	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs2585600	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs2585604	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs2585621	0.95[JPT][hapmap]
rs2585622	0.95[JPT][hapmap];0.83[TSI][hapmap]
rs2585626	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2585627	0.81[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];0.89[JPT][hapmap];0.85[MEX][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2746125	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs2746127	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2746132	0.95[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap]
rs2746137	0.88[JPT][hapmap]
rs2746141	0.85[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap]
rs2802676	0.85[CEU][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.83[TSI][hapmap]
rs2802680	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs2802683	0.89[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap]
rs2802684	0.91[CHB][hapmap];0.93[CHD][hapmap];0.82[GIH][hapmap];0.90[JPT][hapmap]
rs2802687	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2802688	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2802689	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs2802691	0.95[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2802692	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2802694	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2802696	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2802701	0.90[JPT][hapmap];0.80[EUR][1000 genomes]
rs3121775	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs715294	0.89[JPT][hapmap]
rs7745837	0.89[JPT][hapmap]
rs7768591	0.84[CEU][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.83[TSI][hapmap]
rs9360356	0.91[CHB][hapmap];0.84[JPT][hapmap];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886130	chr6:68950298-69531957	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69350800-69362000	Weak transcription	Right Atrium	heart
2	chr6:69352200-69363200	Weak transcription	Brain Germinal Matrix	brain
3	chr6:69352200-69399000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:69352400-69361000	Weak transcription	Fetal Brain Female	brain
5	chr6:69359000-69361000	Enhancers	Brain Hippocampus Middle	brain
6	chr6:69359600-69361600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:69359600-69365400	Enhancers	Fetal Lung	lung
8	chr6:69359600-69365800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr6:69359800-69362000	Weak transcription	Pancreas	Pancrea
10	chr6:69359800-69364200	Enhancers	Fetal Stomach	stomach
11	chr6:69360000-69361000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr6:69360000-69361000	Weak transcription	K562	blood
13	chr6:69360000-69362000	Weak transcription	Fetal Brain Male	brain
14	chr6:69360200-69361000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr6:69360200-69361400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:69360200-69361600	Enhancers	Brain Anterior Caudate	brain
17	chr6:69360200-69362400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:69360400-69361400	Active TSS	Brain Substantia Nigra	brain
19	chr6:69360400-69363800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr6:69360600-69361200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:69360600-69362000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:69360600-69362000	Enhancers	Brain Angular Gyrus	brain
23	chr6:69360600-69362000	Enhancers	NH-A	brain
24	chr6:69360600-69362400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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