Variant report

Variant	rs1167395
Chromosome Location	chr7:65573518-65573519
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:65571184..65573895-chr7:65578439..65580502,3	K562	blood:
2	chr7:65571049..65574074-chr7:65578628..65580539,3	MCF-7	breast:
3	chr7:65567522..65569449-chr7:65572493..65575376,3	K562	blood:
4	chr7:65566517..65569449-chr7:65571661..65573993,2	K562	blood:

Variant related genes	Relation type
ENSG00000241258	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10247043	0.84[AMR][1000 genomes]
rs10272021	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1144894	0.85[AMR][1000 genomes]
rs1144895	0.84[AMR][1000 genomes]
rs1167411	0.84[AMR][1000 genomes]
rs1167612	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1182882	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1183245	0.85[AMR][1000 genomes]
rs11971949	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11974219	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11974264	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13225383	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13240492	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13247295	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1540651	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1565531	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1983372	0.90[AFR][1000 genomes]
rs2087647	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2220626	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2420168	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2949696	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35028832	0.86[AMR][1000 genomes]
rs4612218	0.81[AMR][1000 genomes]
rs55962648	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6946143	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6957690	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6958484	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6961717	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs697968	0.87[AMR][1000 genomes]
rs697969	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs697970	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7801282	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs780742	0.86[AMR][1000 genomes]
rs780743	0.84[AMR][1000 genomes]
rs780744	0.84[AMR][1000 genomes]
rs7809814	0.81[AMR][1000 genomes]
rs780998	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs809080	0.81[AMR][1000 genomes]
rs875971	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs908915	0.81[AMR][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	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	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
3	nsv888325	chr7:65474919-65575893	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs1167395	GS1-124K5.11	cis	Thyroid	GTEx
rs1167395	GS1-124K5.4	cis	Whole Blood	GTEx
rs1167395	RP4-756H11.3	cis	Thyroid	GTEx
rs1167395	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs1167395	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs1167395	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs1167395	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs1167395	RP4-756H11.3	cis	lung	GTEx
rs1167395	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs1167395	GTF2IRD1P1	cis	Thyroid	GTEx
rs1167395	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs1167395	GS1-124K5.4	cis	Stomach	GTEx
rs1167395	RNU6-96P	cis	Thyroid	GTEx
rs1167395	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs1167395	RP4-756H11.3	cis	Artery Tibial	GTEx
rs1167395	GS1-124K5.4	cis	Artery Aorta	GTEx
rs1167395	RP4-756H11.3	cis	Artery Aorta	GTEx
rs1167395	RP4-756H11.3	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65565200-65579800	Weak transcription	Spleen	Spleen
2	chr7:65565600-65575200	Weak transcription	Liver	Liver
3	chr7:65565600-65575800	Weak transcription	HMEC	breast
4	chr7:65565600-65575800	Weak transcription	NH-A	brain
5	chr7:65565600-65579200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:65565800-65579000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:65565800-65579000	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:65565800-65579000	Weak transcription	Fetal Stomach	stomach
9	chr7:65565800-65579400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:65566000-65579000	Weak transcription	Primary T cells from cord blood	blood
11	chr7:65566200-65575800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:65566200-65579000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr7:65566200-65579000	Weak transcription	Brain Substantia Nigra	brain
14	chr7:65566200-65579000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:65566200-65579200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr7:65568200-65573800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:65569200-65575600	Weak transcription	NHEK	skin
18	chr7:65569400-65575800	Weak transcription	A549	lung
19	chr7:65570200-65573800	Enhancers	Hela-S3	cervix
20	chr7:65571400-65575800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:65571600-65575800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:65571800-65575800	Weak transcription	Osteobl	bone
23	chr7:65571800-65576000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:65572000-65575800	Weak transcription	NHLF	lung
25	chr7:65572000-65579000	Weak transcription	Brain Angular Gyrus	brain
26	chr7:65572400-65575400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr7:65572600-65575000	Weak transcription	Fetal Intestine Small	intestine
28	chr7:65572600-65575200	Weak transcription	NHDF-Ad	bronchial
29	chr7:65572600-65575800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:65572600-65576200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:65572800-65575200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:65572800-65575600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:65572800-65575800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:65572800-65575800	Weak transcription	K562	blood
35	chr7:65573000-65579400	Weak transcription	HSMMtube	muscle
36	chr7:65573400-65573800	Enhancers	HepG2	liver

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