Variant report

Variant	rs7115944
Chromosome Location	chr11:10279712-10279713
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10500722	0.85[YRI][hapmap];0.84[AFR][1000 genomes]
rs10500724	0.88[CEU][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10734652	0.89[JPT][hapmap];0.96[YRI][hapmap]
rs10743131	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10743133	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10770085	0.81[EUR][1000 genomes]
rs10770096	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10770104	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10770106	0.81[YRI][hapmap]
rs10840357	0.86[JPT][hapmap]
rs10840358	0.86[JPT][hapmap]
rs10840363	0.86[JPT][hapmap]
rs10840364	0.85[JPT][hapmap]
rs10840369	0.86[JPT][hapmap];0.96[YRI][hapmap]
rs10840380	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10840381	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs10840382	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10840385	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11042617	0.85[JPT][hapmap]
rs11042621	0.86[JPT][hapmap]
rs11042687	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs11042702	0.96[CEU][hapmap];0.81[YRI][hapmap];0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11042703	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11042712	0.80[EUR][1000 genomes]
rs11042714	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs11042716	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11042719	0.88[EUR][1000 genomes]
rs11602090	0.86[EUR][1000 genomes]
rs11607174	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs12279861	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12290748	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12419593	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1442738	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2044143	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2044144	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2060658	0.88[CEU][hapmap]
rs2083715	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs2083716	0.97[EUR][1000 genomes]
rs2083717	0.81[EUR][1000 genomes]
rs34051776	0.89[EUR][1000 genomes]
rs34087225	0.87[EUR][1000 genomes]
rs34692066	0.87[EUR][1000 genomes]
rs34739790	0.87[EUR][1000 genomes]
rs35737881	0.91[EUR][1000 genomes]
rs36167833	0.89[EUR][1000 genomes]
rs36170347	0.87[EUR][1000 genomes]
rs4267063	0.81[EUR][1000 genomes]
rs4323860	0.92[CEU][hapmap];0.81[YRI][hapmap]
rs4418806	0.82[EUR][1000 genomes]
rs4442543	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4466825	0.86[JPT][hapmap]
rs4482025	0.86[EUR][1000 genomes]
rs4509749	0.90[JPT][hapmap]
rs4597056	0.92[CEU][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4910097	0.96[CEU][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes]
rs4910107	1.00[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4910108	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4910115	0.92[CEU][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs55933041	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs56063978	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs56776911	0.83[EUR][1000 genomes]
rs6483966	0.89[JPT][hapmap];0.93[YRI][hapmap]
rs6483970	0.89[JPT][hapmap]
rs6484141	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6484147	0.92[CEU][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6484148	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs6484152	0.92[CEU][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6484160	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7102016	1.00[CEU][hapmap];0.80[JPT][hapmap];0.89[YRI][hapmap];0.82[EUR][1000 genomes]
rs7106998	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7107040	0.87[EUR][1000 genomes]
rs7107290	0.92[CEU][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7107399	0.88[EUR][1000 genomes]
rs7107951	0.87[EUR][1000 genomes]
rs7108358	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs7110312	0.89[JPT][hapmap];0.96[YRI][hapmap]
rs7110652	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs7116147	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7118500	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs7119000	0.86[JPT][hapmap]
rs7123728	0.92[CEU][hapmap];0.81[YRI][hapmap];0.80[EUR][1000 genomes]
rs716803	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs726102	0.96[CEU][hapmap];0.81[YRI][hapmap];0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7479039	0.92[CEU][hapmap];0.83[YRI][hapmap];0.87[EUR][1000 genomes]
rs7924499	0.85[EUR][1000 genomes]
rs7924631	0.82[EUR][1000 genomes]
rs7928170	0.90[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7932988	0.85[JPT][hapmap]
rs7938543	0.92[CEU][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7942420	0.82[EUR][1000 genomes]
rs7944706	1.00[CEU][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes]
rs7945930	0.88[EUR][1000 genomes]
rs7947588	0.83[EUR][1000 genomes]
rs7947666	0.92[CEU][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7950140	1.00[CEU][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs7950461	0.88[EUR][1000 genomes]
rs7952105	0.88[EUR][1000 genomes]
rs9735682	0.84[AFR][1000 genomes];0.88[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7115944	RP11-351I24.1	cis	Whole Blood	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10259200-10280200	Weak transcription	A549	lung
2	chr11:10263600-10280400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:10263800-10280200	Weak transcription	Ovary	ovary
4	chr11:10264600-10280400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:10264600-10280800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:10264800-10282800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:10268600-10300000	Weak transcription	Fetal Intestine Small	intestine
8	chr11:10269800-10283000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:10273600-10280400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:10273800-10280800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:10277400-10279800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:10277400-10281200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr11:10277600-10279800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:10277600-10280800	Weak transcription	NHLF	lung
15	chr11:10277600-10283000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:10277600-10283000	Weak transcription	HUVEC	blood vessel
17	chr11:10277600-10292000	Weak transcription	Aorta	Aorta
18	chr11:10278000-10282800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr11:10278000-10283200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:10278200-10283000	Weak transcription	HSMM	muscle
21	chr11:10278200-10295200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:10278200-10309200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:10278600-10280600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr11:10278800-10279800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr11:10278800-10283000	Weak transcription	Osteobl	bone
26	chr11:10279000-10280200	Weak transcription	HepG2	liver
27	chr11:10279000-10283000	Weak transcription	NHDF-Ad	bronchial
28	chr11:10279000-10283400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:10279000-10311400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr11:10279200-10279800	Enhancers	Left Ventricle	heart
31	chr11:10279200-10280400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr11:10279400-10280600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:10279400-10296600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:10279600-10280800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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