Variant report

Variant	rs1135791
Chromosome Location	chr2:231042276-231042277
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1004869	0.81[YRI][hapmap]
rs10498244	0.93[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs10933327	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465529	0.93[CHB][hapmap];0.91[CHD][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs2114585	0.81[YRI][hapmap]
rs2278199	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6436916	0.82[ASN][1000 genomes]
rs7590861	0.93[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs957682	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.96[ASN][1000 genomes]
rs9783993	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][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	nsv1007920	chr2:230775427-231065592	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1001562	chr2:230862717-231187043	Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv536156	chr2:230862717-231187043	Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1135791	SP110	cis	parietal	SCAN
rs1135791	EFHD1	cis	parietal	SCAN

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231028400-231067000	Strong transcription	Primary B cells from peripheral blood	blood
2	chr2:231028600-231051200	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr2:231028800-231051600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:231030800-231051000	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr2:231030800-231051000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:231031200-231049800	Weak transcription	HSMMtube	muscle
7	chr2:231031400-231051000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:231031400-231051000	Strong transcription	Fetal Thymus	thymus
9	chr2:231031400-231051600	Strong transcription	GM12878-XiMat	blood
10	chr2:231031400-231061200	Strong transcription	Primary B cells from cord blood	blood
11	chr2:231031600-231050800	Strong transcription	Fetal Muscle Leg	muscle
12	chr2:231031600-231052400	Weak transcription	Fetal Brain Male	brain
13	chr2:231031800-231049400	Strong transcription	Liver	Liver
14	chr2:231033800-231050800	Strong transcription	Dnd41	blood
15	chr2:231034800-231047400	Weak transcription	Small Intestine	intestine
16	chr2:231035000-231051800	Strong transcription	Primary T cells from cord blood	blood
17	chr2:231035200-231044600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:231035400-231077000	Weak transcription	HepG2	liver
19	chr2:231035600-231049000	Weak transcription	Brain Angular Gyrus	brain
20	chr2:231035600-231050400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr2:231035600-231050400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:231035600-231050800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr2:231035600-231050800	Strong transcription	Thymus	Thymus
24	chr2:231035600-231051000	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:231035600-231051000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:231035600-231051200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr2:231035600-231051600	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr2:231035800-231049600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:231035800-231062800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:231036000-231048400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:231036200-231048800	Strong transcription	Lung	lung
32	chr2:231036200-231049200	Strong transcription	Adipose Nuclei	Adipose
33	chr2:231036200-231050800	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:231036200-231051200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:231036400-231043000	Strong transcription	Brain Hippocampus Middle	brain
36	chr2:231036400-231051200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:231036600-231048200	Strong transcription	Stomach Smooth Muscle	stomach
38	chr2:231036600-231048800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr2:231036600-231051200	Strong transcription	Ovary	ovary
40	chr2:231036800-231046400	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr2:231036800-231051000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr2:231036800-231071800	Weak transcription	NHEK	skin
43	chr2:231036800-231073600	Weak transcription	HMEC	breast
44	chr2:231037000-231044800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:231037000-231049000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:231037200-231043800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:231037200-231049000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:231037200-231050800	Strong transcription	Spleen	Spleen
49	chr2:231037200-231051000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:231037400-231042400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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