Variant report

Variant	rs2197691
Chromosome Location	chr2:205416821-205416822
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	chr2:205409472..205412242-chr2:205415105..205417693,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116117	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10932073	0.89[EUR][1000 genomes]
rs11675511	0.83[EUR][1000 genomes]
rs11680708	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12474673	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12614238	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12986544	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13024650	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1447497	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1868068	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6713748	0.99[EUR][1000 genomes]
rs6721452	0.85[EUR][1000 genomes]
rs6731575	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs989628	0.83[AMR][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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205411600-205417000	Weak transcription	Psoas Muscle	Psoas
2	chr2:205411600-205426600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:205411600-205438000	Weak transcription	Left Ventricle	heart
4	chr2:205411800-205419400	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:205412000-205417200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:205412000-205427600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:205412000-205429800	Weak transcription	Aorta	Aorta
8	chr2:205412400-205417600	Enhancers	Colon Smooth Muscle	Colon
9	chr2:205413200-205417200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:205413600-205417000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:205414400-205417200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:205415000-205417200	Enhancers	Fetal Stomach	stomach
13	chr2:205415400-205417000	Enhancers	Stomach Mucosa	stomach
14	chr2:205415400-205417200	Enhancers	Fetal Intestine Small	intestine
15	chr2:205415400-205417400	Enhancers	HSMMtube	muscle
16	chr2:205415600-205417000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:205415600-205417000	Enhancers	Fetal Intestine Large	intestine
18	chr2:205415600-205417200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:205415600-205417200	Enhancers	Ovary	ovary
20	chr2:205415800-205417000	Enhancers	Duodenum Mucosa	Duodenum
21	chr2:205416000-205417000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:205416000-205419000	Weak transcription	Brain Anterior Caudate	brain
23	chr2:205416200-205420800	Weak transcription	HSMM	muscle
24	chr2:205416400-205428000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:205416600-205427000	Weak transcription	Fetal Lung	lung
26	chr2:205416800-205417200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:205416800-205423600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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