Variant report

Variant	rs9630868
Chromosome Location	chr19:40684919-40684920
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40684807..40686349-chr19:40694812..40696838,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10410695	1.00[EUR][1000 genomes]
rs10419218	1.00[EUR][1000 genomes]
rs10420514	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs10420687	1.00[EUR][1000 genomes]
rs10421243	1.00[EUR][1000 genomes]
rs10423298	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs10423800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10427117	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs11883159	1.00[EUR][1000 genomes]
rs13382054	1.00[EUR][1000 genomes]
rs170898	1.00[EUR][1000 genomes]
rs234297	1.00[EUR][1000 genomes]
rs234307	1.00[EUR][1000 genomes]
rs234312	1.00[EUR][1000 genomes]
rs234316	1.00[EUR][1000 genomes]
rs234319	1.00[EUR][1000 genomes]
rs234321	1.00[EUR][1000 genomes]
rs234322	1.00[EUR][1000 genomes]
rs234327	1.00[EUR][1000 genomes]
rs234339	1.00[EUR][1000 genomes]
rs234342	1.00[EUR][1000 genomes]
rs2542302	1.00[EUR][1000 genomes]
rs268682	1.00[EUR][1000 genomes]
rs28661993	1.00[EUR][1000 genomes]
rs28776318	1.00[EUR][1000 genomes]
rs28832070	1.00[EUR][1000 genomes]
rs337795	1.00[EUR][1000 genomes]
rs4150980	1.00[EUR][1000 genomes]
rs4150982	1.00[EUR][1000 genomes]
rs57342065	1.00[EUR][1000 genomes]
rs57554707	1.00[EUR][1000 genomes]
rs58348431	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61424085	1.00[EUR][1000 genomes]
rs7245930	1.00[EUR][1000 genomes]
rs7250945	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs7257627	1.00[EUR][1000 genomes]
rs73930678	1.00[EUR][1000 genomes]
rs73930679	1.00[EUR][1000 genomes]
rs8111518	1.00[EUR][1000 genomes]
rs8111741	1.00[EUR][1000 genomes]
rs8112927	1.00[EUR][1000 genomes]
rs922216	1.00[EUR][1000 genomes]
rs9630860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9783944	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv911697	chr19:40599603-40711333	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv528831	chr19:40665924-40684919	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40671600-40688800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr19:40671600-40689000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr19:40683400-40685000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:40683400-40685200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr19:40684400-40685200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr19:40684800-40685200	Enhancers	HMEC	breast

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