Variant report

Variant	rs7995308
Chromosome Location	chr13:96162313-96162314
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2209534	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2389354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4540944	1.00[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4771918	0.84[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs9302077	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[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];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9302078	0.89[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.98[LWK][hapmap];0.96[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9302079	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9516597	0.82[CHD][hapmap]
rs9556484	0.89[CHB][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9556485	1.00[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9556486	0.92[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap];0.96[LWK][hapmap];0.87[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9561884	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9561893	0.95[CEU][hapmap];0.89[CHB][hapmap];0.88[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9561895	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9590295	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9590296	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9590298	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs980094	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752652	chr13:96059024-96181597	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv900933	chr13:96138087-96215289	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7995308	SPATS1	trans	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96150600-96166800	Weak transcription	Pancreas	Pancrea
2	chr13:96150600-96167800	Weak transcription	Esophagus	oesophagus
3	chr13:96159800-96165400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:96160600-96162800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr13:96160800-96162800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:96160800-96162800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr13:96161000-96162600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:96161200-96162600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:96161200-96162600	Enhancers	GM12878-XiMat	blood
10	chr13:96161400-96163800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr13:96161600-96162400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr13:96161600-96162400	Flanking Active TSS	HMEC	breast
13	chr13:96161600-96162400	Enhancers	HSMM	muscle
14	chr13:96161600-96162600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr13:96161600-96162600	Enhancers	NHDF-Ad	bronchial
16	chr13:96161600-96162600	Flanking Active TSS	NHEK	skin
17	chr13:96161600-96162800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:96161800-96162400	Flanking Active TSS	Osteobl	bone
19	chr13:96161800-96162600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr13:96162000-96162400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:96162000-96162400	Flanking Active TSS	NH-A	brain
22	chr13:96162000-96162600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:96162000-96162600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr13:96162000-96162600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr13:96162000-96162600	Enhancers	HUVEC	blood vessel
26	chr13:96162200-96162600	Enhancers	H9 Cell Line	embryonic stem cell
27	chr13:96162200-96162600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr13:96162200-96162800	Enhancers	Monocytes-CD14+_RO01746	blood

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