Variant report

Variant	rs2037482
Chromosome Location	chr7:48080582-48080583
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	chr7:48080536..48082874-chr7:48084498..48087203,2	MCF-7	breast:
2	chr7:48072450..48075424-chr7:48078443..48080669,2	K562	blood:

Variant related genes	Relation type
ENSG00000164746	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10225968	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs10247913	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253238	0.84[CEU][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10256256	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10261930	0.89[JPT][hapmap];0.92[EUR][1000 genomes]
rs10951937	0.88[JPT][hapmap];0.85[EUR][1000 genomes]
rs10951938	0.87[CEU][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes]
rs10951940	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10951941	0.92[CEU][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10951942	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11761275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11762077	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11764799	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11766144	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11766891	0.95[EUR][1000 genomes]
rs11767002	0.96[CEU][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11768277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11772387	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11772633	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11773348	0.84[EUR][1000 genomes]
rs12535580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12702405	0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12702406	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1318327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13230023	0.84[CEU][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes]
rs1574242	0.96[CEU][hapmap];0.89[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1915960	0.96[CEU][hapmap];0.89[JPT][hapmap];0.95[EUR][1000 genomes]
rs1915962	0.92[CEU][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1915965	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1915966	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1915967	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1915968	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1915971	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1915972	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2140113	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs2348666	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2348667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2348669	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2348670	0.85[EUR][1000 genomes]
rs2708851	0.80[EUR][1000 genomes]
rs2708906	0.80[CEU][hapmap]
rs2881991	0.87[CEU][hapmap];0.89[JPT][hapmap];0.90[EUR][1000 genomes]
rs2881992	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3736546	0.81[CEU][hapmap]
rs4332046	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4354227	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4618593	0.89[CEU][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes]
rs6978838	1.00[CEU][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6979699	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7357251	0.92[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7357327	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7456745	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7779252	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7791084	0.88[CEU][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7791572	0.88[CEU][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7791823	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7807611	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7807612	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7807654	0.88[CEU][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7807750	0.88[CEU][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7808462	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9690905	0.92[CEU][hapmap];0.89[JPT][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv888004	chr7:48028771-48120717	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2037482	C7orf57	cis	Esophagus Mucosa	GTEx
rs2037482	UPP1	cis	Muscle Skeletal	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48076200-48080600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:48076200-48080800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:48078000-48081000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr7:48078600-48083200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr7:48078800-48081600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr7:48078800-48083000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:48079200-48081800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:48079400-48080800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:48079400-48081000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:48079600-48081000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:48079600-48081200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:48079600-48081400	Enhancers	NHEK	skin
13	chr7:48079600-48082800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:48079600-48083000	Enhancers	HMEC	breast
15	chr7:48079600-48083200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:48079800-48080600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr7:48079800-48080800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:48079800-48083000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:48080000-48082000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:48080000-48082600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:48080200-48082000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:48080400-48080800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr7:48080400-48081600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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