Variant report

Variant	rs62482495
Chromosome Location	chr7:106965009-106965010
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	chr7:106956489..106959227-chr7:106962952..106965707,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11535285	0.80[AMR][1000 genomes]
rs12112877	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13230144	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17153981	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17154040	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17154091	0.84[AMR][1000 genomes]
rs1858888	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2107317	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2237665	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2237668	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2395868	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2395869	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2520250	0.80[AMR][1000 genomes]
rs2520256	0.80[AMR][1000 genomes]
rs34325395	0.80[AMR][1000 genomes]
rs4727678	0.83[AMR][1000 genomes]
rs4727679	0.83[AMR][1000 genomes]
rs4730235	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4730237	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4730238	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58391518	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62482493	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62482499	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62482502	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs62482503	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62482507	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62483633	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62483634	0.80[EUR][1000 genomes]
rs62483640	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62483641	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6949634	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7777950	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7785892	0.81[ASN][1000 genomes]
rs7788271	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7788330	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7790080	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7803151	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9791733	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs982447	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1024903	chr7:106897237-106965091	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1034707	chr7:106897237-106966215	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
rs62482495	BCAP29	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106886400-106971400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr7:106888800-106999400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:106909000-106968600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr7:106923000-106965800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr7:106923800-106999400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:106928000-106972600	Weak transcription	Fetal Muscle Leg	muscle
7	chr7:106932200-106967400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:106934200-106967400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:106934200-106968600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:106934200-106971600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:106934200-106973000	Weak transcription	Adipose Nuclei	Adipose
12	chr7:106934400-106967200	Weak transcription	Fetal Stomach	stomach
13	chr7:106934400-106971400	Weak transcription	Ovary	ovary
14	chr7:106943000-106973000	Weak transcription	Thymus	Thymus
15	chr7:106945800-106973000	Weak transcription	Right Ventricle	heart
16	chr7:106946200-106967200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:106946200-106999800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr7:106946400-106968000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:106946400-106968000	Weak transcription	NHEK	skin
20	chr7:106946400-106968200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:106946400-106971400	Weak transcription	Esophagus	oesophagus
22	chr7:106946400-106973000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr7:106946400-106978400	Weak transcription	Fetal Intestine Large	intestine
24	chr7:106946400-106983600	Weak transcription	Aorta	Aorta
25	chr7:106946400-106983600	Weak transcription	Fetal Intestine Small	intestine
26	chr7:106946400-106999400	Weak transcription	Pancreas	Pancrea
27	chr7:106948600-106973400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr7:106952400-106973600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr7:106953800-106999400	Weak transcription	Left Ventricle	heart
30	chr7:106954200-106967800	Weak transcription	Primary T cells from cord blood	blood
31	chr7:106954200-106968000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:106954400-106971200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:106954600-106973000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr7:106955400-106973000	Weak transcription	Lung	lung
35	chr7:106956600-106967400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:106957000-106965800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr7:106959400-106973400	Weak transcription	NHDF-Ad	bronchial
38	chr7:106960000-106971000	Weak transcription	Fetal Lung	lung
39	chr7:106960000-106978200	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr7:106960400-106972400	Weak transcription	Psoas Muscle	Psoas
41	chr7:106960600-106974800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:106961000-106967200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr7:106961000-106968600	Weak transcription	Osteobl	bone
44	chr7:106961200-106967400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr7:106961200-106973000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr7:106961200-106973400	Weak transcription	Dnd41	blood
47	chr7:106961200-106982400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:106961400-106972400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr7:106962400-106965400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:106962400-106969200	Weak transcription	Placenta	Placenta

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