Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:205409218..205414018-chr2:205417973..205421402,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116117	Chromatin interaction

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10175056	1.00[EUR][1000 genomes]
rs10177386	1.00[YRI][hapmap]
rs10184804	1.00[EUR][1000 genomes]
rs10184836	1.00[EUR][1000 genomes]
rs10190012	1.00[EUR][1000 genomes]
rs10190374	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10194617	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10199785	1.00[EUR][1000 genomes]
rs10199977	1.00[EUR][1000 genomes]
rs10205679	1.00[EUR][1000 genomes]
rs11899900	1.00[EUR][1000 genomes]
rs11904034	1.00[EUR][1000 genomes]
rs11904064	1.00[EUR][1000 genomes]
rs12328341	1.00[AMR][1000 genomes]
rs12328697	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs13385968	1.00[AMR][1000 genomes]
rs13387699	1.00[AMR][1000 genomes]
rs13390481	1.00[EUR][1000 genomes]
rs13397135	1.00[EUR][1000 genomes]
rs13397282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13428250	1.00[EUR][1000 genomes]
rs2197690	1.00[EUR][1000 genomes]
rs4645000	1.00[EUR][1000 genomes]
rs6741392	1.00[EUR][1000 genomes]
rs6742942	1.00[EUR][1000 genomes]
rs73057258	1.00[EUR][1000 genomes]
rs73057269	1.00[EUR][1000 genomes]
rs73057270	1.00[EUR][1000 genomes]
rs73984226	1.00[EUR][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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205411600-205426600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:205411600-205438000	Weak transcription	Left Ventricle	heart
3	chr2:205411800-205419400	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:205412000-205427600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:205412000-205429800	Weak transcription	Aorta	Aorta
6	chr2:205416000-205419000	Weak transcription	Brain Anterior Caudate	brain
7	chr2:205416200-205420800	Weak transcription	HSMM	muscle
8	chr2:205416400-205428000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:205416600-205427000	Weak transcription	Fetal Lung	lung
10	chr2:205416800-205423600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:205417200-205419600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:205417200-205425200	Weak transcription	Ovary	ovary
13	chr2:205417200-205425800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:205417400-205424400	Weak transcription	HSMMtube	muscle
15	chr2:205417600-205434600	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:205418800-205419800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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