Variant report

Variant	rs2046398
Chromosome Location	chr8:9967821-9967822
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10098474	0.84[CEU][hapmap];0.90[CHB][hapmap]
rs10104911	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10107485	0.82[CHB][hapmap]
rs1160369	0.87[CHB][hapmap]
rs11774411	0.83[CHB][hapmap]
rs11783851	0.83[CHB][hapmap]
rs11785434	0.82[CHB][hapmap]
rs11990610	0.96[CHB][hapmap];0.93[ASN][1000 genomes]
rs11990614	0.96[CHB][hapmap];0.91[ASN][1000 genomes]
rs11998591	0.84[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs12114195	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12115063	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12549943	0.83[CHB][hapmap]
rs12550244	0.84[CEU][hapmap];0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs13256357	0.83[CHB][hapmap]
rs1484638	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1564808	0.86[CHB][hapmap]
rs17149332	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17151108	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17151140	0.81[CEU][hapmap];0.96[CHB][hapmap];0.85[ASN][1000 genomes]
rs17151145	0.85[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs17151147	0.85[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs17151188	0.96[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs17151193	0.89[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs1994223	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1994224	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28653100	0.84[ASN][1000 genomes]
rs2898242	0.87[CHB][hapmap]
rs4294187	0.84[CEU][hapmap];0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs4840461	0.89[CEU][hapmap]
rs4840463	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs4840464	0.88[CEU][hapmap];0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs4841279	0.87[CHB][hapmap]
rs4841280	0.84[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57105322	0.84[ASN][1000 genomes]
rs58764043	0.85[ASN][1000 genomes]
rs62488697	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62488698	0.89[ASN][1000 genomes]
rs62488709	0.88[ASN][1000 genomes]
rs62488714	0.90[ASN][1000 genomes]
rs6601417	0.91[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs685218	0.87[CHB][hapmap]
rs6985791	0.85[CHB][hapmap]
rs6988046	0.84[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes]
rs7008407	0.87[CHB][hapmap]
rs7843906	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs814421	0.84[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs814422	0.89[CEU][hapmap];0.82[CHB][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs814424	0.84[CEU][hapmap];0.86[CHB][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs814427	0.88[EUR][1000 genomes]
rs860068	0.84[CEU][hapmap];0.87[CHB][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9329214	0.82[CEU][hapmap];0.91[CHB][hapmap]
rs9329215	0.87[CHB][hapmap]
rs936749	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs963593	0.81[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs9644681	0.86[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv610263	chr8:9941021-10090149	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1034343	chr8:9948342-10014155	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1027280	chr8:9958259-10058984	Enhancers Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1850829	chr8:9958321-10045451	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv972229	chr8:9966193-9968922	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9959800-9974000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:9961400-9970400	Weak transcription	Pancreas	Pancrea
3	chr8:9962000-9969000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr8:9963000-9970200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:9963200-9970400	Weak transcription	Aorta	Aorta
6	chr8:9966000-9975800	Weak transcription	Right Atrium	heart
7	chr8:9966800-9969200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:9967200-9975800	Weak transcription	Fetal Brain Male	brain
9	chr8:9967200-9977400	Weak transcription	Fetal Brain Female	brain

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