Variant report

Variant	rs2294771
Chromosome Location	chr6:142760962-142760963
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1040525	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1040526	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1342060	0.88[EUR][1000 genomes]
rs1360194	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418201	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs155259	0.89[EUR][1000 genomes]
rs1891308	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2039986	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2039987	0.86[EUR][1000 genomes]
rs2050157	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2294764	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs262115	0.82[EUR][1000 genomes]
rs262119	0.89[EUR][1000 genomes]
rs262121	0.89[EUR][1000 genomes]
rs262129	0.89[EUR][1000 genomes]
rs263178	0.87[EUR][1000 genomes]
rs263179	0.87[EUR][1000 genomes]
rs263180	0.89[EUR][1000 genomes]
rs263181	0.89[EUR][1000 genomes]
rs263182	0.89[EUR][1000 genomes]
rs263183	0.89[EUR][1000 genomes]
rs263184	0.89[EUR][1000 genomes]
rs263185	0.87[EUR][1000 genomes]
rs263186	0.89[EUR][1000 genomes]
rs263187	0.89[EUR][1000 genomes]
rs263188	0.89[EUR][1000 genomes]
rs263189	0.89[EUR][1000 genomes]
rs3748069	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3817929	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4896582	0.89[EUR][1000 genomes]
rs611802	0.85[EUR][1000 genomes]
rs6570507	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6570508	0.89[EUR][1000 genomes]
rs6570509	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6570510	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6909857	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6929442	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6937121	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7741741	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7754638	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7755109	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7756305	0.88[EUR][1000 genomes]
rs7763064	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7770386	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7774095	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7776375	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9373346	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9389984	0.87[EUR][1000 genomes]
rs9389985	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9389986	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9389987	0.89[EUR][1000 genomes]
rs9399401	0.88[EUR][1000 genomes]
rs9403380	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9403381	0.88[EUR][1000 genomes]
rs9403382	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9403383	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9403387	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9496346	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9496369	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9496374	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9496392	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs962554	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs972982	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][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	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142718000-142763200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:142735200-142765400	Weak transcription	Hela-S3	cervix
3	chr6:142735800-142765400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:142737600-142765600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr6:142737800-142765800	Weak transcription	Fetal Brain Male	brain
6	chr6:142738000-142774200	Weak transcription	NHEK	skin
7	chr6:142739000-142764800	Weak transcription	NHLF	lung
8	chr6:142743200-142769200	Weak transcription	HMEC	breast
9	chr6:142743400-142761600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:142748000-142782600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:142749200-142764600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr6:142750000-142762200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:142750000-142766000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:142751600-142780000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:142752400-142774600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:142753600-142774000	Strong transcription	Liver	Liver
17	chr6:142754000-142761800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:142754000-142772800	Strong transcription	HepG2	liver
19	chr6:142755200-142765800	Weak transcription	Fetal Intestine Small	intestine
20	chr6:142755200-142766000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:142756400-142764400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:142757200-142765400	Weak transcription	Fetal Intestine Large	intestine
23	chr6:142757200-142765400	Weak transcription	Fetal Stomach	stomach
24	chr6:142758400-142762800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:142758600-142762400	Strong transcription	HUVEC	blood vessel
26	chr6:142758600-142762600	Strong transcription	Placenta	Placenta
27	chr6:142758600-142763200	Strong transcription	A549	lung
28	chr6:142758800-142761600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr6:142759000-142762400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:142760000-142770600	Weak transcription	Lung	lung
31	chr6:142760200-142762200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:142760400-142767800	Weak transcription	Esophagus	oesophagus
33	chr6:142760600-142761400	Weak transcription	Fetal Lung	lung
34	chr6:142760600-142765400	Weak transcription	HSMM	muscle
35	chr6:142760600-142765800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:142760800-142765400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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