Variant report

Variant	rs360157
Chromosome Location	chr11:9754221-9754222
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9634288..9636670-chr11:9753675..9757139,3	MCF-7	breast:
2	chr11:9684481..9687167-chr11:9753341..9755403,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133789	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1032550	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs10743117	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10743118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10840293	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10840294	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10840295	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840296	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840305	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs10840306	0.84[CHB][hapmap];0.88[JPT][hapmap]
rs12360647	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12788348	0.91[CHB][hapmap];0.94[JPT][hapmap]
rs173396	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1996794	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs2649044	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs360136	1.00[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs360137	0.94[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs360139	0.86[ASN][1000 genomes]
rs360153	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs360155	0.93[EUR][1000 genomes]
rs360156	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs360158	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs373894	0.94[ASN][1000 genomes]
rs3751000	0.91[CHB][hapmap];0.94[JPT][hapmap]
rs378825	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs415895	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs429835	0.83[JPT][hapmap]
rs472109	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4910063	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs4910498	0.88[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4910499	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs491205	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7126913	0.91[JPT][hapmap]
rs93138	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs93139	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9943599	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[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	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' 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
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv553468	chr11:9667828-9827871	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1045550	chr11:9718324-9790088	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs360157	ASCL3	cis	parietal	SCAN
rs360157	MRVI1	cis	parietal	SCAN
rs360157	OR52E8	cis	cerebellum	SCAN
rs360157	RNF141	cis	parietal	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9710200-9758400	Weak transcription	Psoas Muscle	Psoas
2	chr11:9711400-9754400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:9729600-9755400	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr11:9730600-9758200	Weak transcription	Esophagus	oesophagus
5	chr11:9733600-9757000	Weak transcription	Fetal Brain Female	brain
6	chr11:9733600-9761600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:9733800-9759800	Weak transcription	Fetal Heart	heart
8	chr11:9739800-9754800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:9740000-9758000	Weak transcription	Aorta	Aorta
10	chr11:9740000-9762000	Weak transcription	Brain Angular Gyrus	brain
11	chr11:9742200-9754600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:9742200-9756800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr11:9742200-9758400	Weak transcription	Brain Substantia Nigra	brain
14	chr11:9742200-9759800	Weak transcription	Fetal Kidney	kidney
15	chr11:9742200-9779400	Weak transcription	Fetal Brain Male	brain
16	chr11:9744400-9756800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:9744600-9761400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:9744800-9756000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:9744800-9758000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:9745000-9775600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr11:9745600-9758600	Strong transcription	NHDF-Ad	bronchial
22	chr11:9747400-9757000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr11:9747600-9755000	Genic enhancers	Primary B cells from cord blood	blood
24	chr11:9748600-9754400	Weak transcription	A549	lung
25	chr11:9748600-9754400	Weak transcription	Hela-S3	cervix
26	chr11:9749000-9757000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:9749000-9761800	Weak transcription	Small Intestine	intestine
28	chr11:9749000-9764400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:9749000-9764400	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr11:9749200-9758000	Weak transcription	Stomach Mucosa	stomach
31	chr11:9749400-9755800	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:9749400-9757800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:9749400-9757800	Strong transcription	HSMM	muscle
34	chr11:9749400-9758000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:9749400-9758800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:9749400-9764400	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr11:9749600-9756200	Strong transcription	NHLF	lung
38	chr11:9749600-9764400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:9749800-9754800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr11:9750000-9756800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr11:9750000-9757200	Strong transcription	HUVEC	blood vessel
42	chr11:9750200-9758400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:9751000-9764400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr11:9751400-9754400	Weak transcription	Brain Hippocampus Middle	brain
45	chr11:9751400-9757000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:9751400-9758400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:9751800-9755800	Weak transcription	Fetal Intestine Small	intestine
48	chr11:9752200-9754400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr11:9752200-9754400	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr11:9753000-9756600	Weak transcription	Primary T cells fromperipheralblood	blood

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