Variant report

Variant	rs7948215
Chromosome Location	chr11:10240499-10240500
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10160763	0.84[ASN][1000 genomes]
rs10770103	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10840375	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10840377	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042593	0.81[EUR][1000 genomes]
rs11042595	0.83[EUR][1000 genomes]
rs11042601	0.85[EUR][1000 genomes]
rs11042609	0.85[EUR][1000 genomes]
rs11042615	0.85[EUR][1000 genomes]
rs11042618	0.86[EUR][1000 genomes]
rs11042623	0.85[EUR][1000 genomes]
rs11042632	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11042641	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11042683	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1114426	0.92[ASN][1000 genomes]
rs11600251	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11600489	0.89[EUR][1000 genomes]
rs11606561	0.88[EUR][1000 genomes]
rs11607682	0.85[EUR][1000 genomes]
rs11607703	0.85[EUR][1000 genomes]
rs12360783	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12362060	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362938	0.87[EUR][1000 genomes]
rs12416695	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12417184	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12418212	0.85[EUR][1000 genomes]
rs12418619	0.85[EUR][1000 genomes]
rs12420122	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420734	0.86[EUR][1000 genomes]
rs12421096	0.86[EUR][1000 genomes]
rs12421179	0.86[EUR][1000 genomes]
rs12421931	0.86[EUR][1000 genomes]
rs1372808	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1372811	0.92[ASN][1000 genomes]
rs1442737	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17359113	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1822291	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1822292	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1822293	0.92[ASN][1000 genomes]
rs1837978	0.92[ASN][1000 genomes]
rs1867135	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044142	0.81[AFR][1000 genomes]
rs2197171	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2403291	0.92[ASN][1000 genomes]
rs2403292	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28731164	0.85[EUR][1000 genomes]
rs2957652	0.81[AFR][1000 genomes]
rs34596876	0.81[AFR][1000 genomes]
rs34683105	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35246982	0.91[ASN][1000 genomes]
rs35269701	1.00[ASN][1000 genomes]
rs35380986	0.91[ASN][1000 genomes]
rs4271380	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4281477	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4385889	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4519084	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4643073	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910095	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4910098	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4910101	0.92[ASN][1000 genomes]
rs4910102	0.92[ASN][1000 genomes]
rs4910110	0.84[ASN][1000 genomes]
rs4910111	0.84[ASN][1000 genomes]
rs55788918	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55796222	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56853694	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61877048	0.82[EUR][1000 genomes]
rs61877049	0.83[EUR][1000 genomes]
rs61878582	0.86[EUR][1000 genomes]
rs61878587	0.86[EUR][1000 genomes]
rs61878622	0.85[EUR][1000 genomes]
rs61878636	0.86[EUR][1000 genomes]
rs61889838	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7110151	0.84[ASN][1000 genomes]
rs7123453	0.89[EUR][1000 genomes]
rs7123820	0.83[EUR][1000 genomes]
rs7124401	0.84[ASN][1000 genomes]
rs7924875	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7928959	0.83[EUR][1000 genomes]
rs7935774	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935934	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7938491	0.90[EUR][1000 genomes]
rs7938502	0.81[EUR][1000 genomes]
rs7938647	0.83[EUR][1000 genomes]
rs7945980	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7947306	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7950447	0.86[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	chr11:10219000-10242200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:10227800-10242600	Weak transcription	Esophagus	oesophagus
3	chr11:10230200-10240600	Weak transcription	A549	lung
4	chr11:10230600-10246800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:10231000-10254400	Weak transcription	NHDF-Ad	bronchial
6	chr11:10231000-10254400	Weak transcription	NHLF	lung
7	chr11:10235400-10263400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:10237800-10243400	Weak transcription	HepG2	liver
9	chr11:10239800-10241000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:10240000-10240600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr11:10240000-10240600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:10240000-10240800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr11:10240000-10241200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:10240000-10241200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:10240000-10241200	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr11:10240000-10242400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:10240200-10240600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr11:10240200-10240800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
19	chr11:10240200-10241000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:10240200-10241000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:10240200-10241000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:10240200-10241200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:10240200-10241200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr11:10240200-10241200	ZNF genes & repeats	Fetal Stomach	stomach
25	chr11:10240200-10241800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:10240400-10240600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:10240400-10240800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:10240400-10242800	Weak transcription	Right Atrium	heart

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