Variant report

Variant	rs10915975
Chromosome Location	chr1:226521192-226521193
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226519461..226522899-chr1:226531976..226535651,4	K562	blood:
2	chr1:226312574..226313520-chr1:226520859..226521824,5	K562	blood:
3	chr1:226312639..226313148-chr1:226520956..226521664,2	MCF-7	breast:
4	chr1:226308726..226310655-chr1:226519754..226522717,2	K562	blood:
5	chr1:226519929..226522250-chr1:226531976..226533628,2	K562	blood:
6	chr1:226388686..226389478-chr1:226520890..226521627,3	MCF-7	breast:
7	chr1:226506267..226510285-chr1:226517351..226521218,4	K562	blood:
8	chr1:226512776..226515056-chr1:226519489..226521387,2	MCF-7	breast:
9	chr1:226308726..226310508-chr1:226519943..226522717,2	K562	blood:
10	chr1:226495763..226498478-chr1:226520093..226521736,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000183814	Chromatin interaction
ENSG00000236994	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10799348	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10915976	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11583305	1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[JPT][hapmap];0.91[TSI][hapmap];0.94[ASN][1000 genomes]
rs11586721	0.91[ASN][1000 genomes]
rs11799818	0.94[ASN][1000 genomes]
rs11805809	0.94[ASN][1000 genomes]
rs2089796	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4653723	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4653727	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58027411	0.96[ASN][1000 genomes]
rs61101869	0.80[ASN][1000 genomes]
rs61642967	0.93[ASN][1000 genomes]
rs61836916	0.97[ASN][1000 genomes]
rs66497972	0.84[ASN][1000 genomes]
rs66554885	0.88[ASN][1000 genomes]
rs6662737	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6670767	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7354984	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]

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	nsv832770	chr1:226465130-226655512	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10915975	OBSCN	cis	cerebellum	SCAN
rs10915975	DEGS1	cis	cerebellum	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226519200-226521200	Enhancers	Placenta	Placenta
2	chr1:226520400-226521200	Enhancers	HepG2	liver
3	chr1:226520400-226521400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:226520400-226521400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:226520400-226521400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:226520600-226521200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:226520600-226521200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr1:226520600-226521200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:226520600-226521200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:226520600-226521400	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:226520600-226521400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:226520600-226521400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:226520600-226521400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr1:226520600-226521400	Active TSS	A549	lung
15	chr1:226520600-226521600	Enhancers	Primary B cells from peripheral blood	blood
16	chr1:226520600-226521600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:226520600-226521600	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr1:226520800-226521200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:226520800-226521200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr1:226521000-226521200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:226521000-226521200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:226521000-226521200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr1:226521000-226521200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr1:226521000-226521200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:226521000-226521200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:226521000-226521200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr1:226521000-226521200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr1:226521000-226521200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr1:226521000-226521200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:226521000-226521200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:226521000-226521200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:226521000-226521200	Active TSS	Brain Anterior Caudate	brain
33	chr1:226521000-226521200	Active TSS	Brain Hippocampus Middle	brain
34	chr1:226521000-226521200	Active TSS	Brain Substantia Nigra	brain
35	chr1:226521000-226521200	Active TSS	Fetal Brain Male	brain
36	chr1:226521000-226521200	Enhancers	Fetal Intestine Small	intestine
37	chr1:226521000-226521200	Enhancers	Fetal Lung	lung
38	chr1:226521000-226521200	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr1:226521000-226521200	Flanking Active TSS	GM12878-XiMat	blood
40	chr1:226521000-226521200	Enhancers	K562	blood
41	chr1:226521000-226521200	Flanking Active TSS	Osteobl	bone
42	chr1:226521000-226521400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr1:226521000-226521400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:226521000-226521400	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr1:226521000-226521400	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr1:226521000-226521400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:226521000-226521400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:226521000-226521400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:226521000-226521400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:226521000-226521400	Bivalent Enhancer	Adipose Nuclei	Adipose

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