Variant report

Variant	rs34281790
Chromosome Location	chr3:100790767-100790768
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:100788987..100791271-chr3:100835784..100837518,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10511182	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13059867	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13060849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13065583	0.85[EUR][1000 genomes]
rs13065684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13074729	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13081830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13085636	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13085839	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13086519	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16843198	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16843216	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16843225	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16843229	0.95[EUR][1000 genomes]
rs17219986	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1839298	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs35252712	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs35333915	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35337386	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs35573711	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs35850913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35856427	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35974360	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs36077661	0.85[EUR][1000 genomes]
rs36082674	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs41386544	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs58427219	0.84[EUR][1000 genomes]
rs62274066	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62274067	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62274076	0.85[EUR][1000 genomes]
rs62274077	0.85[EUR][1000 genomes]
rs62274078	0.85[EUR][1000 genomes]
rs62275774	0.87[AMR][1000 genomes]
rs62275825	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs62275826	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66598219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67144487	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv877222	chr3:100715576-101038297	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv591176	chr3:100763611-100799644	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv591177	chr3:100767398-100799644	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100786000-100791000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:100786000-100791000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:100787800-100791400	Enhancers	A549	lung
4	chr3:100787800-100791400	Enhancers	HUVEC	blood vessel
5	chr3:100787800-100792200	Enhancers	Hela-S3	cervix
6	chr3:100788000-100791800	Enhancers	Fetal Intestine Large	intestine
7	chr3:100788200-100790800	Weak transcription	NHEK	skin
8	chr3:100788200-100791600	Enhancers	Fetal Intestine Small	intestine
9	chr3:100788400-100791000	Enhancers	Small Intestine	intestine
10	chr3:100789000-100791600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr3:100789000-100792200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr3:100789200-100791200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:100789200-100791200	Weak transcription	NH-A	brain
14	chr3:100789200-100800800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:100789400-100790800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:100789400-100790800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:100789400-100790800	Weak transcription	HMEC	breast
18	chr3:100789400-100791200	Weak transcription	NHLF	lung
19	chr3:100789600-100790800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:100789600-100791000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr3:100789600-100791200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:100789600-100791200	Weak transcription	Colon Smooth Muscle	Colon
23	chr3:100789600-100791200	Weak transcription	Osteobl	bone
24	chr3:100790000-100790800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr3:100790000-100791800	Enhancers	Stomach Mucosa	stomach
26	chr3:100790400-100790800	Weak transcription	Rectal Mucosa Donor 29	rectum

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