Variant report

Variant	rs10158408
Chromosome Location	chr1:86089510-86089511
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	chr1:86045896..86049345-chr1:86088234..86091419,5	K562	blood:

Variant related genes	Relation type
ENSG00000142871	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10493773	0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10493774	0.86[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12061951	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12066742	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12239954	0.83[AFR][1000 genomes]
rs12722770	0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12751296	0.85[AFR][1000 genomes]
rs17394091	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17398175	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17398321	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2274738	0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs34746573	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3767163	0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs55654440	0.85[AFR][1000 genomes]
rs6658857	0.81[AFR][1000 genomes]
rs6673340	0.85[AFR][1000 genomes]
rs7354850	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7523292	0.89[AFR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1000290	chr1:86078495-86105379	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86079200-86094400	Weak transcription	Pancreas	Pancrea
2	chr1:86083800-86095200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:86083800-86103200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:86084600-86092800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:86085800-86093200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:86087200-86089800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:86087400-86094400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:86088000-86090400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:86088200-86089600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:86088200-86089600	Enhancers	NH-A	brain
11	chr1:86088200-86094400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:86088200-86101800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr1:86088400-86094200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:86088400-86101400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:86088400-86102000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:86088400-86103000	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:86088600-86089600	Enhancers	HSMM	muscle
18	chr1:86088600-86090400	Strong transcription	A549	lung
19	chr1:86088600-86091800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr1:86088600-86092200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:86088600-86092400	Weak transcription	Psoas Muscle	Psoas
22	chr1:86088600-86094400	Weak transcription	Fetal Intestine Large	intestine
23	chr1:86088600-86094400	Weak transcription	Left Ventricle	heart
24	chr1:86088600-86094800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:86088600-86094800	Weak transcription	Right Ventricle	heart
26	chr1:86088600-86101800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:86088600-86103000	Weak transcription	NHEK	skin
28	chr1:86088800-86090000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:86088800-86093000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:86088800-86093400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:86088800-86094200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr1:86088800-86094200	Weak transcription	Liver	Liver
33	chr1:86088800-86094400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:86088800-86094400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr1:86088800-86094400	Weak transcription	Fetal Muscle Leg	muscle
36	chr1:86088800-86094600	Weak transcription	Fetal Intestine Small	intestine
37	chr1:86088800-86094800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:86088800-86094800	Weak transcription	Esophagus	oesophagus
39	chr1:86088800-86101000	Weak transcription	Dnd41	blood
40	chr1:86088800-86101800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:86088800-86101800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:86089200-86094200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:86089200-86094200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:86089400-86090400	Strong transcription	Primary T cells from cord blood	blood
45	chr1:86089400-86090400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:86089400-86091000	Weak transcription	Osteobl	bone
47	chr1:86089400-86091200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:86089400-86091800	Weak transcription	Primary B cells from cord blood	blood
49	chr1:86089400-86092400	Weak transcription	HSMMtube	muscle
50	chr1:86089400-86092400	Weak transcription	K562	blood

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