Variant report

Variant	rs1013514
Chromosome Location	chr7:128331808-128331809
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128331712..128335200-chr7:128335875..128338019,5	K562	blood:
2	chr7:128331101..128332933-chr7:128334732..128337486,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201041	Chromatin interaction
ENSG00000252866	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 23 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10954206	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11769769	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11982488	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11983903	0.91[ASN][1000 genomes]
rs12706856	0.80[ASN][1000 genomes]
rs12706857	0.81[ASN][1000 genomes]
rs2956682	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4731481	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs55817807	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55928948	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59287454	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60382581	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61437980	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62481896	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62481928	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62483311	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62483370	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467200	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6955870	0.85[AMR][1000 genomes]
rs6965333	0.80[AMR][1000 genomes]
rs73236077	0.81[AFR][1000 genomes]
rs7800335	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9768325	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][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	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv966738	chr7:128325654-128339129	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:23)

SNP	Gene	Cis/trans	Tissue	Source
rs1013514	RP11-274B21.4	cis	Stomach	GTEx
rs1013514	CICP14	cis	Thyroid	GTEx
rs1013514	RP11-274B21.4	cis	Nerve Tibial	GTEx
rs1013514	RP11-274B21.4	cis	lung	GTEx
rs1013514	RP11-274B21.1	cis	lung	GTEx
rs1013514	RP11-274B21.3	cis	Nerve Tibial	GTEx
rs1013514	RP11-274B21.3	cis	Muscle Skeletal	GTEx
rs1013514	RP11-274B21.1	cis	Skin Sun Exposed Lower leg	GTEx
rs1013514	RP11-274B21.4	cis	Muscle Skeletal	GTEx
rs1013514	RP11-274B21.4	cis	Skin Sun Exposed Lower leg	GTEx
rs1013514	RP11-274B21.2	cis	Stomach	GTEx
rs1013514	RP11-274B21.2	cis	Adipose Subcutaneous	GTEx
rs1013514	RP11-274B21.2	cis	Skin Sun Exposed Lower leg	GTEx
rs1013514	RP11-274B21.2	cis	Thyroid	GTEx
rs1013514	RP11-274B21.2	cis	lung	GTEx
rs1013514	RP11-274B21.4	cis	Adipose Subcutaneous	GTEx
rs1013514	RP11-274B21.2	cis	Muscle Skeletal	GTEx
rs1013514	RP11-274B21.1	cis	Nerve Tibial	GTEx
rs1013514	RP11-274B21.1	cis	Adipose Subcutaneous	GTEx
rs1013514	RP11-274B21.4	cis	Thyroid	GTEx
rs1013514	RP11-274B21.2	cis	Nerve Tibial	GTEx
rs1013514	RP11-274B21.4	cis	Esophagus Mucosa	GTEx
rs1013514	RP11-274B21.1	cis	Thyroid	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128302400-128337200	Weak transcription	Gastric	stomach
2	chr7:128313600-128337200	Weak transcription	Right Atrium	heart
3	chr7:128320200-128332000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:128320200-128337200	Weak transcription	NHLF	lung
5	chr7:128321000-128332000	Weak transcription	Fetal Brain Male	brain
6	chr7:128322200-128333000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:128323400-128337200	Weak transcription	Left Ventricle	heart
8	chr7:128324200-128337200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr7:128324400-128337200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:128325600-128333800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:128325600-128337000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:128326000-128337200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:128328000-128332800	Weak transcription	Brain Anterior Caudate	brain
14	chr7:128328000-128333400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:128328000-128334000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:128328000-128334800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:128328000-128337000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:128328000-128337200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:128328000-128337200	Weak transcription	HSMMtube	muscle
20	chr7:128328000-128337200	Weak transcription	NH-A	brain
21	chr7:128328200-128337000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:128328800-128337200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:128329000-128337200	Weak transcription	HSMM	muscle
24	chr7:128329400-128333400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:128329400-128337200	Weak transcription	Pancreas	Pancrea

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