Variant report

Variant	rs11187073
Chromosome Location	chr10:94324728-94324729
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	chr10:94319217..94325067-chr10:94331330..94335449,6	K562	blood:
2	chr10:94323647..94325408-chr10:94326611..94328979,2	K562	blood:

Variant related genes	Relation type
ENSG00000119912	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10736069	0.82[YRI][hapmap];0.81[AFR][1000 genomes]
rs10786050	0.85[YRI][hapmap];0.81[AFR][1000 genomes]
rs10882091	0.87[ASW][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes]
rs10882094	0.87[YRI][hapmap];0.81[AFR][1000 genomes]
rs11187009	0.86[ASN][1000 genomes]
rs11187025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes]
rs11187027	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11187031	0.86[ASN][1000 genomes]
rs11187032	0.86[ASN][1000 genomes]
rs11187040	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11187064	0.87[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11187065	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187067	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187070	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12356508	0.81[AMR][1000 genomes]
rs12358677	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12776190	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17445028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17445328	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2421941	0.83[AFR][1000 genomes]
rs35418143	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35616984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646953	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646955	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56289118	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61861406	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6583827	0.81[AFR][1000 genomes]
rs6583830	0.87[ASW][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes]
rs7071905	0.81[AFR][1000 genomes]
rs7096101	0.81[AFR][1000 genomes]
rs72811205	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7900689	0.87[YRI][hapmap];0.81[AFR][1000 genomes]
rs7914814	0.87[ASW][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	esv1792868	chr10:94232247-94409749	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv895894	chr10:94249982-94452430	Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv895895	chr10:94304132-94372706	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11187073	PIPSL	cis	parietal	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94267800-94328800	Weak transcription	Fetal Heart	heart
2	chr10:94272200-94332000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr10:94272200-94332200	Weak transcription	Gastric	stomach
4	chr10:94277200-94331200	Weak transcription	Stomach Mucosa	stomach
5	chr10:94277800-94332200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr10:94304600-94331400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr10:94310200-94325000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:94313800-94327000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:94314200-94325800	Weak transcription	Pancreas	Pancrea
10	chr10:94314200-94326800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr10:94314200-94327200	Weak transcription	Brain Anterior Caudate	brain
12	chr10:94314200-94328800	Weak transcription	NHLF	lung
13	chr10:94314200-94331000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr10:94314200-94331200	Weak transcription	Brain Substantia Nigra	brain
15	chr10:94314200-94331200	Weak transcription	Small Intestine	intestine
16	chr10:94314200-94331400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr10:94314200-94331400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr10:94314200-94331600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr10:94314200-94332000	Weak transcription	Colonic Mucosa	Colon
20	chr10:94314400-94327800	Weak transcription	NHDF-Ad	bronchial
21	chr10:94314400-94331000	Weak transcription	Psoas Muscle	Psoas
22	chr10:94314400-94331200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr10:94314400-94331600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr10:94314400-94332200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr10:94314400-94332400	Weak transcription	Aorta	Aorta
26	chr10:94314400-94332400	Weak transcription	Lung	lung
27	chr10:94314600-94331200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr10:94315000-94331200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr10:94315200-94331200	Weak transcription	Brain Angular Gyrus	brain
30	chr10:94315600-94327600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr10:94315600-94327600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr10:94316000-94327000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr10:94316600-94331400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr10:94317200-94325600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr10:94317400-94331200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr10:94317600-94332200	Weak transcription	Fetal Thymus	thymus
37	chr10:94318000-94331200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr10:94318000-94332000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr10:94319000-94331200	Weak transcription	Right Ventricle	heart
40	chr10:94319200-94325600	Weak transcription	NHEK	skin
41	chr10:94319200-94327600	Weak transcription	Osteobl	bone
42	chr10:94319400-94327600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr10:94319400-94327600	Weak transcription	NH-A	brain
44	chr10:94319400-94331600	Weak transcription	HSMMtube	muscle
45	chr10:94319400-94332200	Weak transcription	Fetal Kidney	kidney
46	chr10:94319600-94331200	Weak transcription	Fetal Lung	lung
47	chr10:94319800-94332000	Weak transcription	Brain Germinal Matrix	brain
48	chr10:94320200-94325200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr10:94320200-94326800	Weak transcription	Left Ventricle	heart
50	chr10:94320200-94327200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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