Variant report

Variant	rs7593084
Chromosome Location	chr2:73013836-73013837
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10204141	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10496187	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11126378	0.89[ASW][hapmap];0.95[LWK][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs11126381	0.88[ASN][1000 genomes]
rs11126382	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11126386	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11689339	0.89[ASW][hapmap];0.93[LWK][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs11884266	0.92[YRI][hapmap]
rs11886503	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11892598	0.84[ASW][hapmap];0.93[LWK][hapmap];0.96[YRI][hapmap]
rs12476137	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12479094	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12614041	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12615875	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12619068	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12619565	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1562361	0.89[ASW][hapmap];0.93[LWK][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs17008315	1.00[YRI][hapmap]
rs17008369	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs17008371	0.89[ASW][hapmap];0.98[LWK][hapmap];0.84[MKK][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes]
rs1876487	1.00[JPT][hapmap]
rs1876488	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2063168	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2068410	0.93[CEU][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4597553	0.93[CEU][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4852292	0.85[YRI][hapmap]
rs4852896	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4852897	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4852900	0.87[EUR][1000 genomes]
rs55642420	0.86[AFR][1000 genomes]
rs55749009	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55802296	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56058174	0.93[AFR][1000 genomes]
rs56181835	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56711961	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57264301	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58890506	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59216875	0.93[AFR][1000 genomes]
rs59615613	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60284189	0.95[AFR][1000 genomes]
rs60314340	0.84[AFR][1000 genomes]
rs60584321	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61619102	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61736520	0.91[AFR][1000 genomes]
rs66469454	0.84[AFR][1000 genomes]
rs66509842	0.98[AFR][1000 genomes]
rs66794803	0.90[AFR][1000 genomes]
rs6713143	0.89[ASW][hapmap];0.93[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs6713712	0.96[YRI][hapmap]
rs6716335	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6736649	0.85[AFR][1000 genomes]
rs6761253	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67919884	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67927720	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7567893	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7577528	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7586339	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7586886	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7591025	0.81[YRI][hapmap]
rs7604402	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.90[MEX][hapmap];0.83[MKK][hapmap];0.96[TSI][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7607226	0.93[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];0.97[ASN][1000 genomes]
rs970577	0.93[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][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	nsv834259	chr2:72941118-73114106	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7593084	CD207	cis	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72985200-73015800	Weak transcription	Ovary	ovary
2	chr2:72989400-73015800	Weak transcription	Placenta	Placenta
3	chr2:72990800-73018400	Weak transcription	Aorta	Aorta
4	chr2:72991200-73015800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:72991200-73015800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:72991200-73023000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:72999800-73022000	Weak transcription	Right Ventricle	heart
8	chr2:73005400-73016200	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:73005800-73015800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:73005800-73016200	Weak transcription	HSMM	muscle
11	chr2:73008000-73014200	Enhancers	Fetal Heart	heart
12	chr2:73008000-73016000	Weak transcription	HMEC	breast
13	chr2:73008600-73015600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:73008600-73020600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:73008800-73015600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:73008800-73016200	Weak transcription	Brain Angular Gyrus	brain
17	chr2:73008800-73016200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:73009200-73021000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:73010200-73021000	Weak transcription	Brain Anterior Caudate	brain
20	chr2:73010400-73020400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:73011000-73014000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:73011000-73014000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:73011400-73015600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:73011600-73015400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:73011800-73020800	Weak transcription	Fetal Lung	lung
26	chr2:73011800-73021200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:73012400-73014000	Enhancers	Brain Hippocampus Middle	brain
28	chr2:73013000-73015800	Weak transcription	Left Ventricle	heart
29	chr2:73013000-73016000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:73013200-73020400	Weak transcription	Fetal Stomach	stomach
31	chr2:73013400-73014200	Enhancers	Brain Cingulate Gyrus	brain
32	chr2:73013400-73014200	Enhancers	Brain Substantia Nigra	brain
33	chr2:73013400-73015800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:73013600-73015800	Weak transcription	Brain Inferior Temporal Lobe	brain

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