Variant report

Variant	rs2298991
Chromosome Location	chr4:110892012-110892013
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10017564	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11098057	0.83[CEU][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11568904	0.84[AMR][1000 genomes]
rs12503113	0.84[EUR][1000 genomes]
rs12506489	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12506702	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12510173	0.83[CEU][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12640600	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1860129	0.91[CEU][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2074390	0.83[CEU][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2190907	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2237049	0.83[CEU][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2237051	0.83[CEU][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2237052	0.83[CEU][hapmap];0.90[AMR][1000 genomes]
rs2237053	0.90[AMR][1000 genomes]
rs2282784	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2298978	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs2298979	0.84[EUR][1000 genomes]
rs2298983	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2298989	0.87[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2298992	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2298993	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2347137	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2881559	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs3796944	0.87[CEU][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3796948	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4444903	0.82[EUR][1000 genomes]
rs6533482	0.88[CEU][hapmap];0.90[YRI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6533483	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6824594	0.83[CEU][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7692976	0.82[YRI][hapmap];0.88[AMR][1000 genomes]
rs882405	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs882471	0.83[CEU][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs929446	0.87[CEU][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110860600-110906600	Weak transcription	Psoas Muscle	Psoas
2	chr4:110875600-110909800	Weak transcription	Pancreas	Pancrea
3	chr4:110884200-110893600	Weak transcription	Fetal Heart	heart
4	chr4:110885800-110897200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr4:110885800-110909800	Weak transcription	Left Ventricle	heart
6	chr4:110888200-110893800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:110889000-110894000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:110890200-110894200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:110890200-110894400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:110890400-110893600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr4:110890400-110894200	Weak transcription	NHEK	skin
12	chr4:110890400-110900800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:110890600-110893800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:110891200-110893200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr4:110891200-110900000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:110891400-110892800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr4:110891400-110893400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr4:110891400-110893800	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:110891600-110892600	Weak transcription	Fetal Intestine Small	intestine
20	chr4:110891600-110895400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr4:110891600-110896400	Weak transcription	Spleen	Spleen
22	chr4:110891800-110892200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:110891800-110892400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr4:110891800-110893200	Weak transcription	HepG2	liver
25	chr4:110891800-110900000	Weak transcription	Primary hematopoietic stem cells	blood

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