Variant report

Variant	rs9818188
Chromosome Location	chr3:134382955-134382956
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	chr3:134370814..134375265-chr3:134381984..134385819,4	MCF-7	breast:
2	chr3:134362110..134364024-chr3:134381671..134384527,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10212595	0.85[CHD][hapmap]
rs13089566	0.81[JPT][hapmap]
rs1447691	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1823217	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1868164	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1982353	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4955470	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6763188	1.00[JPT][hapmap]
rs6775611	0.81[JPT][hapmap]
rs7636265	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7637801	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs766492	0.89[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs9883955	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.80[MEX][hapmap];0.96[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][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	nsv877510	chr3:134126150-134400448	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs9818188	KY	cis	cerebellum	SCAN
rs9818188	ANAPC13	cis	cerebellum	SCAN
rs9818188	CEP63	cis	multi-tissue	Pritchard
rs9818188	ANAPC13	cis	parietal	SCAN
rs9818188	TXNDC6	cis	cerebellum	SCAN
rs9818188	ANAPC13	cis	multi-tissue	Pritchard

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134371000-134386800	Weak transcription	Pancreas	Pancrea
2	chr3:134378200-134384000	Weak transcription	Fetal Brain Male	brain
3	chr3:134380800-134385200	Enhancers	Fetal Muscle Trunk	muscle
4	chr3:134380800-134386600	Enhancers	Fetal Muscle Leg	muscle
5	chr3:134381600-134383000	Enhancers	HSMMtube	muscle
6	chr3:134381600-134384200	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr3:134381600-134386200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr3:134381600-134388400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr3:134382000-134383000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr3:134382200-134383000	Enhancers	Psoas Muscle	Psoas
11	chr3:134382200-134384000	Enhancers	Stomach Smooth Muscle	stomach
12	chr3:134382200-134384400	Enhancers	Left Ventricle	heart
13	chr3:134382400-134383200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr3:134382400-134383200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr3:134382400-134383400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr3:134382400-134383600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:134382400-134383600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:134382400-134383600	Enhancers	HSMM	muscle
19	chr3:134382400-134384600	Enhancers	Fetal Brain Female	brain
20	chr3:134382400-134384800	Enhancers	Fetal Heart	heart
21	chr3:134382600-134383400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:134382600-134384400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr3:134382600-134385600	Enhancers	Right Ventricle	heart
24	chr3:134382800-134383000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:134382800-134383000	Flanking Active TSS	Osteobl	bone
26	chr3:134382800-134383400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
27	chr3:134382800-134383400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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