Variant report

Variant	rs73982595
Chromosome Location	chr2:205744002-205744003
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs57961408	1.00[AFR][1000 genomes]
rs58415117	0.91[AFR][1000 genomes]
rs61315722	1.00[AFR][1000 genomes]
rs6435257	1.00[AFR][1000 genomes]
rs6715583	1.00[AFR][1000 genomes]
rs6718742	0.91[AFR][1000 genomes]
rs73982557	0.91[AFR][1000 genomes]
rs73982559	1.00[AFR][1000 genomes]
rs73982591	1.00[AFR][1000 genomes]
rs73982592	1.00[AFR][1000 genomes]
rs73982593	1.00[AFR][1000 genomes]
rs73982602	1.00[AFR][1000 genomes]
rs73984404	1.00[AFR][1000 genomes]
rs7574812	1.00[AFR][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	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
2	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
3	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2757846	chr2:205539832-205841174	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2759111	chr2:205539832-205841174	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv875725	chr2:205572718-205760800	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205735000-205746000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:205735400-205746600	Weak transcription	Ovary	ovary
3	chr2:205736200-205746000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:205739800-205745000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:205739800-205746800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr2:205740800-205745000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr2:205742200-205746000	Enhancers	Primary T cells from cord blood	blood
8	chr2:205742200-205746200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:205742200-205747800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:205742400-205744200	Enhancers	Colon Smooth Muscle	Colon
11	chr2:205742400-205745000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:205742600-205744200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:205742600-205746400	Weak transcription	Fetal Brain Male	brain
14	chr2:205742800-205745400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr2:205743000-205744200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:205743000-205744600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr2:205743200-205744400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:205743200-205744600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr2:205743200-205745400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr2:205743400-205744400	Enhancers	Rectal Smooth Muscle	rectum
21	chr2:205743800-205744400	Enhancers	Stomach Smooth Muscle	stomach
22	chr2:205744000-205744200	Enhancers	Fetal Lung	lung

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