Variant report

Variant	rs4271380
Chromosome Location	chr11:10253512-10253513
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10253231..10255912-chr11:10256898..10258938,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10770103	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10840375	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10840377	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11042595	0.81[EUR][1000 genomes]
rs11042601	0.83[EUR][1000 genomes]
rs11042609	0.83[EUR][1000 genomes]
rs11042615	0.83[EUR][1000 genomes]
rs11042618	0.83[EUR][1000 genomes]
rs11042623	0.83[EUR][1000 genomes]
rs11042632	0.82[EUR][1000 genomes]
rs11042641	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11042683	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11600251	0.86[EUR][1000 genomes]
rs11600489	0.87[EUR][1000 genomes]
rs11606561	0.86[EUR][1000 genomes]
rs11607682	0.83[EUR][1000 genomes]
rs11607703	0.83[EUR][1000 genomes]
rs12360783	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12362060	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12362938	0.84[EUR][1000 genomes]
rs12416695	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12417184	0.82[EUR][1000 genomes]
rs12418212	0.83[EUR][1000 genomes]
rs12418514	0.81[EUR][1000 genomes]
rs12418619	0.83[EUR][1000 genomes]
rs12420122	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12420734	0.84[EUR][1000 genomes]
rs12421096	0.83[EUR][1000 genomes]
rs12421179	0.83[EUR][1000 genomes]
rs12421931	0.83[EUR][1000 genomes]
rs1372808	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1442737	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17359113	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1822291	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1822292	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1867135	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2197171	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2403292	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28731164	0.83[EUR][1000 genomes]
rs34683105	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4281477	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4345958	0.81[EUR][1000 genomes]
rs4385889	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4519084	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4643073	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4910095	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4910098	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55788918	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55796222	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56853694	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61877049	0.80[EUR][1000 genomes]
rs61878582	0.84[EUR][1000 genomes]
rs61878587	0.83[EUR][1000 genomes]
rs61878622	0.83[EUR][1000 genomes]
rs61878636	0.83[EUR][1000 genomes]
rs61889838	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7123453	0.86[EUR][1000 genomes]
rs7123820	0.81[EUR][1000 genomes]
rs7924875	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7928959	0.80[EUR][1000 genomes]
rs7935774	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7935934	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7938491	0.88[EUR][1000 genomes]
rs7938647	0.81[EUR][1000 genomes]
rs7945980	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7947306	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7948215	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7950447	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv1039636	chr11:10126747-10280570	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10231000-10254400	Weak transcription	NHDF-Ad	bronchial
2	chr11:10231000-10254400	Weak transcription	NHLF	lung
3	chr11:10235400-10263400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:10240600-10259800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:10241000-10253600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:10241200-10255200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:10241800-10254800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:10242400-10253600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:10247800-10254200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:10247800-10255200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:10247800-10259200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:10252000-10255200	Weak transcription	Osteobl	bone
13	chr11:10252200-10264200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:10252600-10254800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr11:10252600-10255000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:10252800-10253600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr11:10252800-10254000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:10253000-10254800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:10253000-10268200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr11:10253200-10253800	Weak transcription	Left Ventricle	heart
21	chr11:10253200-10254200	ZNF genes & repeats	Fetal Stomach	stomach
22	chr11:10253200-10254400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:10253400-10254000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:10253400-10254000	Strong transcription	Ovary	ovary
25	chr11:10253400-10254400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:10253400-10254400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
27	chr11:10253400-10254400	ZNF genes & repeats	Fetal Intestine Small	intestine
28	chr11:10253400-10255000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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