Variant report

Variant	rs10261710
Chromosome Location	chr7:65714189-65714190
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65704500..65706480-chr7:65713204..65714741,2	K562	blood:
2	chr7:65703885..65706000-chr7:65711760..65714704,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1065265	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10950035	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10950036	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10950040	0.87[EUR][1000 genomes]
rs11766183	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11767262	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11769702	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11770063	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12668269	0.87[EUR][1000 genomes]
rs12670811	0.89[EUR][1000 genomes]
rs1547529	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17138149	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17138156	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1909508	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2173571	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2279757	0.95[EUR][1000 genomes]
rs2420456	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35459055	0.87[EUR][1000 genomes]
rs3936065	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4718325	0.90[EUR][1000 genomes]
rs4718335	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4718346	0.89[EUR][1000 genomes]
rs6460281	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6460298	0.87[EUR][1000 genomes]
rs66594357	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67775320	0.87[EUR][1000 genomes]
rs6945896	0.87[EUR][1000 genomes]
rs6960848	0.85[EUR][1000 genomes]
rs6969224	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6970498	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6979636	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73142233	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73142245	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73142265	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73146609	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73148639	0.89[EUR][1000 genomes]
rs73148689	0.87[EUR][1000 genomes]
rs73150604	0.88[EUR][1000 genomes]
rs7782212	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7783889	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7785117	0.94[EUR][1000 genomes]
rs7786735	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7801332	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7810213	0.88[EUR][1000 genomes]
rs7811204	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1028692	chr7:65673136-65751069	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538908	chr7:65673136-65751069	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs10261710	GS1-124K5.11	cis	Thyroid	GTEx
rs10261710	RNU6-96P	cis	Thyroid	GTEx
rs10261710	GS1-124K5.4	cis	Esophagus Mucosa	GTEx
rs10261710	GS1-124K5.4	cis	Stomach	GTEx
rs10261710	GS1-124K5.4	cis	Artery Aorta	GTEx
rs10261710	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs10261710	GTF2IRD1P1	cis	Thyroid	GTEx

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65672200-65723400	Weak transcription	Right Atrium	heart
2	chr7:65676000-65716800	Weak transcription	Primary B cells from cord blood	blood
3	chr7:65686800-65715400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr7:65689600-65715800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:65701600-65729200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:65702400-65723600	Weak transcription	Gastric	stomach
7	chr7:65703000-65715800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr7:65703800-65716600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:65704000-65726800	Weak transcription	HSMM	muscle
10	chr7:65704200-65715200	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:65704200-65729200	Weak transcription	Aorta	Aorta
12	chr7:65704200-65731200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:65704400-65720200	Weak transcription	HSMMtube	muscle
14	chr7:65704400-65721800	Weak transcription	Fetal Intestine Small	intestine
15	chr7:65704400-65746800	Weak transcription	Pancreas	Pancrea
16	chr7:65704600-65716200	Weak transcription	Fetal Intestine Large	intestine
17	chr7:65704800-65720200	Weak transcription	NHLF	lung
18	chr7:65705800-65716400	Weak transcription	Esophagus	oesophagus
19	chr7:65705800-65729200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:65706000-65716800	Weak transcription	Fetal Stomach	stomach
21	chr7:65706000-65720200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:65706200-65715200	Weak transcription	NHEK	skin
23	chr7:65706200-65720200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr7:65706400-65715400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:65706400-65720200	Weak transcription	NHDF-Ad	bronchial
26	chr7:65706800-65714200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:65707000-65721200	Weak transcription	Fetal Kidney	kidney
28	chr7:65708400-65718200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:65709800-65723400	Weak transcription	Ovary	ovary
30	chr7:65710000-65714200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr7:65710400-65715400	Weak transcription	A549	lung
32	chr7:65710600-65720200	Weak transcription	Brain Angular Gyrus	brain
33	chr7:65711800-65715600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:65711800-65720400	Weak transcription	Fetal Lung	lung
35	chr7:65711800-65723200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr7:65711800-65723200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr7:65712400-65714800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:65712600-65714600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:65712600-65715200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr7:65712600-65715600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:65712600-65715600	Weak transcription	Brain Anterior Caudate	brain
42	chr7:65712800-65714400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:65712800-65715200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:65712800-65721800	Weak transcription	Left Ventricle	heart
45	chr7:65712800-65729200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr7:65713000-65714600	Weak transcription	HMEC	breast
47	chr7:65713000-65715400	Weak transcription	Hela-S3	cervix
48	chr7:65713000-65715400	Weak transcription	HepG2	liver
49	chr7:65713000-65715800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:65713800-65714600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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