Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:205438155..205440984-chr2:205442811..205444516,2	K562	blood:
2	chr2:205425587..205427655-chr2:205437197..205439824,2	K562	blood:

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10166278	1.00[EUR][1000 genomes]
rs10175056	1.00[EUR][1000 genomes]
rs10184804	1.00[EUR][1000 genomes]
rs10184836	1.00[EUR][1000 genomes]
rs10190012	1.00[EUR][1000 genomes]
rs10190374	1.00[EUR][1000 genomes]
rs10194617	1.00[EUR][1000 genomes]
rs10199785	1.00[EUR][1000 genomes]
rs10199977	1.00[EUR][1000 genomes]
rs10205679	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11899900	1.00[EUR][1000 genomes]
rs11904034	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11904064	1.00[EUR][1000 genomes]
rs12328697	1.00[EUR][1000 genomes]
rs13390481	1.00[EUR][1000 genomes]
rs13397135	1.00[EUR][1000 genomes]
rs13397282	1.00[EUR][1000 genomes]
rs13399833	1.00[EUR][1000 genomes]
rs13399965	1.00[EUR][1000 genomes]
rs13400246	1.00[EUR][1000 genomes]
rs13407064	1.00[EUR][1000 genomes]
rs13410864	1.00[EUR][1000 genomes]
rs13412566	1.00[EUR][1000 genomes]
rs13427607	1.00[EUR][1000 genomes]
rs13428250	1.00[EUR][1000 genomes]
rs2197690	1.00[EUR][1000 genomes]
rs4645000	1.00[EUR][1000 genomes]
rs6741392	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6742942	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73057258	1.00[EUR][1000 genomes]
rs73057270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73984226	1.00[EUR][1000 genomes]
rs7589280	1.00[AFR][1000 genomes]
rs9288355	1.00[EUR][1000 genomes]
rs9973966	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205425800-205454400	Weak transcription	HSMM	muscle
2	chr2:205431600-205440600	Weak transcription	Adipose Nuclei	Adipose
3	chr2:205435000-205441000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:205435400-205440200	Weak transcription	Psoas Muscle	Psoas
5	chr2:205437200-205439600	Weak transcription	Fetal Intestine Small	intestine
6	chr2:205438200-205440600	Enhancers	Brain Substantia Nigra	brain
7	chr2:205438400-205439600	Enhancers	Right Atrium	heart
8	chr2:205438800-205440200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:205438800-205448600	Weak transcription	Left Ventricle	heart
10	chr2:205438800-205458000	Weak transcription	Gastric	stomach
11	chr2:205439000-205440200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:205439000-205444200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:205439200-205439600	Weak transcription	Fetal Intestine Large	intestine
14	chr2:205439400-205439600	Enhancers	Aorta	Aorta
15	chr2:205439400-205439600	Enhancers	Ovary	ovary
16	chr2:205439400-205441200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:205439400-205444000	Weak transcription	Pancreas	Pancrea

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