Variant report

Variant	rs62482499
Chromosome Location	chr7:106975059-106975060
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:106961525..106963597-chr7:106973933..106975827,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12112877	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13230144	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17153981	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17154040	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1858888	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2107317	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2237660	0.80[EUR][1000 genomes]
rs2237661	0.80[EUR][1000 genomes]
rs2237665	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2237668	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2301801	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2395868	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2395869	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4730235	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4730237	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4730238	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58391518	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62482493	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62482495	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62482502	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs62482503	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62482507	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62483629	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62483633	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62483634	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62483640	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62483641	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6949634	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777950	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7785892	0.88[ASN][1000 genomes]
rs7788271	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7788330	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7790080	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7803151	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9791733	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs982447	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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
rs62482499	BCAP29	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 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	chr7:106946400-106978400	Weak transcription	Fetal Intestine Large	intestine
5	chr7:106946400-106983600	Weak transcription	Aorta	Aorta
6	chr7:106946400-106983600	Weak transcription	Fetal Intestine Small	intestine
7	chr7:106946400-106999400	Weak transcription	Pancreas	Pancrea
8	chr7:106953800-106999400	Weak transcription	Left Ventricle	heart
9	chr7:106960000-106978200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:106961200-106982400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr7:106964200-106978400	Weak transcription	Liver	Liver
12	chr7:106964400-106977800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:106965400-106998000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:106967600-106978400	Weak transcription	Fetal Stomach	stomach
15	chr7:106967600-106983800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:106967800-106999800	Weak transcription	Fetal Heart	heart
17	chr7:106969200-106978200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:106969200-106984200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:106973800-106996000	Weak transcription	Primary T cells from cord blood	blood
20	chr7:106973800-106998200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr7:106974000-106977600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:106974000-106977800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr7:106974000-106998000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr7:106974600-106999400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:106974800-106984200	Weak transcription	Primary B cells from cord blood	blood
26	chr7:106975000-106975800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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