Variant report

Variant	rs62482503
Chromosome Location	chr7:106987988-106987989
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10224503	0.81[AMR][1000 genomes]
rs10264412	0.80[AMR][1000 genomes]
rs11535285	0.82[AMR][1000 genomes]
rs12112877	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12670688	0.81[ASN][1000 genomes]
rs13230144	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17153981	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17154040	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17154091	0.86[AMR][1000 genomes]
rs1858888	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2107317	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2237660	0.80[EUR][1000 genomes]
rs2237661	0.80[EUR][1000 genomes]
rs2237665	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2237668	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2237671	0.80[AMR][1000 genomes]
rs2301801	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2395868	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2395869	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2520250	0.82[AMR][1000 genomes]
rs2520256	0.82[AMR][1000 genomes]
rs2712196	0.80[AMR][1000 genomes]
rs2712224	0.82[AMR][1000 genomes]
rs34325395	0.82[AMR][1000 genomes]
rs4727678	0.84[AMR][1000 genomes]
rs4727679	0.84[AMR][1000 genomes]
rs4730235	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4730237	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4730238	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58391518	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62482493	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62482495	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62482499	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62482502	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62482507	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62482543	0.80[ASN][1000 genomes]
rs62483629	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62483633	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62483634	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62483640	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62483641	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6949634	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7777950	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7785892	0.87[ASN][1000 genomes]
rs7788271	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7788330	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790080	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7803151	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9791733	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs982447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3383027	chr7:106802625-107096474	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv888939	chr7:106849393-107045700	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv1825788	chr7:106897237-107136320	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1024793	chr7:106900877-107170312	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv608073	chr7:106960515-107063686	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv1832266	chr7:106961882-107136320	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62482503	BCAP29	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106888800-106999400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:106923800-106999400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:106946200-106999800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr7:106946400-106999400	Weak transcription	Pancreas	Pancrea
5	chr7:106953800-106999400	Weak transcription	Left Ventricle	heart
6	chr7:106965400-106998000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:106967800-106999800	Weak transcription	Fetal Heart	heart
8	chr7:106973800-106996000	Weak transcription	Primary T cells from cord blood	blood
9	chr7:106973800-106998200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr7:106974000-106998000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr7:106974600-106999400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr7:106982400-106999800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:106982800-106988000	Weak transcription	Fetal Kidney	kidney
14	chr7:106984000-106999800	Weak transcription	Aorta	Aorta
15	chr7:106984200-106996000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:106984400-107006200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:106984800-106989400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:106984800-106992600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:106984800-106998800	Weak transcription	Fetal Intestine Large	intestine
20	chr7:106984800-106999200	Weak transcription	Primary B cells from cord blood	blood
21	chr7:106985200-106999400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:106985200-106999400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:106985200-106999400	Weak transcription	Fetal Intestine Small	intestine
24	chr7:106985600-106999000	Weak transcription	Dnd41	blood
25	chr7:106985800-106995600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:106986000-107013200	Weak transcription	Small Intestine	intestine
27	chr7:106987400-106998200	Weak transcription	Primary B cells from peripheral blood	blood

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