Variant report

Variant	rs1367203
Chromosome Location	chr2:183311523-183311524
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	chr2:183296401..183298106-chr2:183311342..183313093,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10207132	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10497598	0.94[CEU][hapmap];0.87[CHB][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap]
rs10497600	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[CHD][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10497601	1.00[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs10497602	1.00[YRI][hapmap]
rs10497603	0.90[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1125184	1.00[ASW][hapmap];0.92[LWK][hapmap];0.87[AFR][1000 genomes]
rs11686025	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs12465662	1.00[ASW][hapmap];0.92[LWK][hapmap];0.84[AFR][1000 genomes]
rs12465755	0.84[AFR][1000 genomes]
rs12466618	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs12466937	0.84[AFR][1000 genomes]
rs12468232	0.91[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs12468346	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs12470124	0.84[AFR][1000 genomes]
rs12473820	0.87[AFR][1000 genomes]
rs12474820	0.82[AFR][1000 genomes]
rs12475048	0.82[AFR][1000 genomes]
rs12478132	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs12479259	1.00[YRI][hapmap]
rs13407156	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1346775	0.91[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1367204	0.84[AFR][1000 genomes]
rs1430147	0.94[CEU][hapmap];0.87[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap]
rs1430148	0.94[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap]
rs1430160	0.84[AFR][1000 genomes]
rs1583114	1.00[CEU][hapmap];0.87[CHB][hapmap];0.84[JPT][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16823233	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16823254	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16823257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17265027	1.00[CEU][hapmap];0.87[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17265041	0.80[EUR][1000 genomes]
rs17265061	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17265189	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs17356152	0.85[CEU][hapmap];0.81[MEX][hapmap];0.81[EUR][1000 genomes]
rs17356166	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17356207	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][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];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17356214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17356296	0.91[LWK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs17356303	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs1946815	0.85[CEU][hapmap];0.81[MEX][hapmap]
rs28569979	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34103461	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[LWK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34744930	0.84[AFR][1000 genomes]
rs35809203	0.87[AFR][1000 genomes]
rs4091077	0.85[JPT][hapmap]
rs4318355	0.86[AFR][1000 genomes]
rs4496292	1.00[YRI][hapmap]
rs4572561	0.85[GIH][hapmap]
rs4666582	0.84[AFR][1000 genomes]
rs4666585	0.84[AFR][1000 genomes]
rs4666837	1.00[YRI][hapmap]
rs62188260	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62188264	0.80[EUR][1000 genomes]
rs62188266	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62188267	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62188268	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62188269	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62188270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62188283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62188284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62188286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62188287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62188288	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62188289	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62188290	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs62188294	0.81[AFR][1000 genomes]
rs62188295	0.87[AFR][1000 genomes]
rs62189024	0.84[AFR][1000 genomes]
rs62189025	0.84[AFR][1000 genomes]
rs62189027	0.84[AFR][1000 genomes]
rs62190201	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62190676	0.82[AFR][1000 genomes]
rs62190679	0.82[AFR][1000 genomes]
rs62190680	0.82[AFR][1000 genomes]
rs62190681	0.82[AFR][1000 genomes]
rs6760364	1.00[YRI][hapmap];0.91[AFR][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	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv834481	chr2:183189758-183339577	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv2830429	chr2:183300759-183545378	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1367203	SSFA2	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183298800-183320800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:183308400-183312000	Weak transcription	Left Ventricle	heart
3	chr2:183309200-183313800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:183309800-183313800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:183310200-183312200	Weak transcription	NHDF-Ad	bronchial
6	chr2:183310400-183312000	Weak transcription	Aorta	Aorta
7	chr2:183310800-183312200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:183310800-183312200	Weak transcription	NHLF	lung
9	chr2:183311000-183312000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:183311000-183312600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:183311200-183311800	Weak transcription	Brain Angular Gyrus	brain
12	chr2:183311200-183312200	Weak transcription	HSMMtube	muscle
13	chr2:183311400-183311800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:183311400-183311800	Weak transcription	HSMM	muscle
15	chr2:183311400-183311800	Weak transcription	Osteobl	bone
16	chr2:183311400-183313800	Weak transcription	Fetal Brain Male	brain

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