Variant report

Variant	rs2802694
Chromosome Location	chr6:69360204-69360205
allele	C/T
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	chr6:69359484..69364655-chr6:69364836..69370262,9	K562	blood:
5	chr6:69359830..69361786-chr6:69366952..69369781,2	K562	blood:
6	chr6:69349831..69353456-chr6:69358636..69362534,5	K562	blood:

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

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

rs_ID	r²[population]
rs1033520	0.89[JPT][hapmap]
rs10945138	0.89[CEU][hapmap];0.85[JPT][hapmap]
rs10945139	0.80[JPT][hapmap]
rs11752398	0.84[JPT][hapmap]
rs11752837	0.85[JPT][hapmap]
rs12154008	0.80[JPT][hapmap]
rs12201488	0.85[JPT][hapmap]
rs13218712	0.84[JPT][hapmap]
rs2246093	0.87[EUR][1000 genomes]
rs2246104	0.82[CEU][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs2253759	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs2253866	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs2254654	0.88[CEU][hapmap];0.90[JPT][hapmap]
rs2585592	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs2585597	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs2585598	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs2585599	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs2585600	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs2585604	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs2585621	0.90[JPT][hapmap]
rs2585622	0.90[JPT][hapmap]
rs2585623	0.81[ASN][1000 genomes]
rs2585626	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2585627	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2746125	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs2746127	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs2746132	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs2746137	0.84[JPT][hapmap]
rs2746141	0.88[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap]
rs2802676	0.88[CEU][hapmap];0.84[JPT][hapmap]
rs2802680	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs2802683	0.93[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap]
rs2802684	0.86[CHB][hapmap];0.84[JPT][hapmap]
rs2802687	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs2802688	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs2802689	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap]
rs2802691	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2802692	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2802693	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];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2802701	0.86[JPT][hapmap]
rs3121775	0.87[CHB][hapmap];0.90[JPT][hapmap]
rs715294	0.84[JPT][hapmap]
rs7745837	0.85[JPT][hapmap]
rs7768591	0.88[CEU][hapmap];0.84[JPT][hapmap]
rs9360356	0.96[CHB][hapmap];0.90[JPT][hapmap];0.93[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:21 , 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	chr6:69359000-69360400	Enhancers	Brain Substantia Nigra	brain
6	chr6:69359000-69361000	Enhancers	Brain Hippocampus Middle	brain
7	chr6:69359600-69361600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:69359600-69365400	Enhancers	Fetal Lung	lung
9	chr6:69359600-69365800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr6:69359800-69362000	Weak transcription	Pancreas	Pancrea
11	chr6:69359800-69364200	Enhancers	Fetal Stomach	stomach
12	chr6:69360000-69361000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr6:69360000-69361000	Weak transcription	K562	blood
14	chr6:69360000-69362000	Weak transcription	Fetal Brain Male	brain
15	chr6:69360200-69360400	Enhancers	Brain Angular Gyrus	brain
16	chr6:69360200-69360600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:69360200-69360600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr6:69360200-69361000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr6:69360200-69361400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:69360200-69361600	Enhancers	Brain Anterior Caudate	brain
21	chr6:69360200-69362400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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