Variant report

Variant	rs7070956
Chromosome Location	chr10:89855562-89855563
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:89853824..89856538-chr10:89858985..89861232,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10749563	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10887784	0.85[CHB][hapmap]
rs2184698	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6586119	0.84[GIH][hapmap];0.81[AMR][1000 genomes]
rs7901779	0.87[AMR][1000 genomes]
rs7914010	0.91[CHB][hapmap];0.90[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831940	chr10:89811247-89989199	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7070956	STAMBPL1	cis	parietal	SCAN
rs7070956	FAM190B	cis	cerebellum	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:89848800-89856200	Enhancers	Fetal Thymus	thymus
2	chr10:89851800-89857400	Enhancers	Dnd41	blood
3	chr10:89853000-89857200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr10:89853400-89857200	Weak transcription	Fetal Heart	heart
5	chr10:89853400-89857800	Weak transcription	Primary B cells from cord blood	blood
6	chr10:89853600-89856400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr10:89853800-89860800	Weak transcription	GM12878-XiMat	blood
8	chr10:89854200-89855600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr10:89854200-89855600	Enhancers	Adipose Nuclei	Adipose
10	chr10:89854200-89856000	Enhancers	Fetal Intestine Small	intestine
11	chr10:89854200-89856000	Enhancers	HMEC	breast
12	chr10:89854400-89856000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr10:89854600-89855800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:89854600-89856000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr10:89854600-89856000	Enhancers	NHEK	skin
16	chr10:89854600-89856000	Enhancers	NHLF	lung
17	chr10:89854600-89856200	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr10:89854600-89856200	Enhancers	Colon Smooth Muscle	Colon
19	chr10:89854600-89856800	Enhancers	Liver	Liver
20	chr10:89854800-89855600	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr10:89854800-89855800	Enhancers	Fetal Stomach	stomach
22	chr10:89854800-89856000	Enhancers	Fetal Lung	lung
23	chr10:89854800-89856000	Enhancers	NHDF-Ad	bronchial
24	chr10:89854800-89856000	Enhancers	Osteobl	bone
25	chr10:89854800-89856200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:89855000-89855600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr10:89855000-89855800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr10:89855000-89856000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr10:89855000-89856000	Enhancers	Fetal Intestine Large	intestine
30	chr10:89855000-89856000	Enhancers	Rectal Smooth Muscle	rectum
31	chr10:89855200-89856000	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr10:89855200-89856000	Enhancers	HepG2	liver
33	chr10:89855200-89856200	Enhancers	HSMM	muscle
34	chr10:89855400-89855600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr10:89855400-89855800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr10:89855400-89855800	Enhancers	Fetal Muscle Leg	muscle
37	chr10:89855400-89855800	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr10:89855400-89855800	Enhancers	Thymus	Thymus
39	chr10:89855400-89856000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr10:89855400-89856000	Enhancers	Ovary	ovary
41	chr10:89855400-89856000	Enhancers	HSMMtube	muscle
42	chr10:89855400-89857200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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