Variant report

Variant	rs942050
Chromosome Location	chr1:197401180-197401181
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:197399649..197401505-chr1:197401879..197403715,2	K562	blood:
2	chr1:197393861..197396014-chr1:197399559..197401986,3	K562	blood:
3	chr1:197357652..197359203-chr1:197400391..197402708,2	K562	blood:
4	chr1:197401163..197403684-chr1:197406748..197408451,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1022908	0.87[AMR][1000 genomes]
rs1024920	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1033826	0.88[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10494753	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10494759	1.00[CHB][hapmap]
rs10754226	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs10801606	0.87[AMR][1000 genomes]
rs10922235	0.87[AMR][1000 genomes]
rs12089070	1.00[JPT][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1362940	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs1421390	0.87[AMR][1000 genomes]
rs1421391	0.87[AMR][1000 genomes]
rs1421394	0.87[AMR][1000 genomes]
rs1570412	0.88[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1570413	0.88[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1592707	0.87[AMR][1000 genomes]
rs1592708	0.87[AMR][1000 genomes]
rs16841475	1.00[ASN][1000 genomes]
rs1862011	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1923758	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1923760	0.81[YRI][hapmap]
rs1923761	0.84[AFR][1000 genomes]
rs1923763	0.82[YRI][hapmap];0.84[AFR][1000 genomes]
rs1951697	0.82[YRI][hapmap];0.84[AFR][1000 genomes]
rs1998433	0.87[AMR][1000 genomes]
rs2146484	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2146485	0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2160967	0.87[AMR][1000 genomes]
rs2181373	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2359119	0.87[AMR][1000 genomes]
rs2476016	0.81[AFR][1000 genomes]
rs2476017	0.82[YRI][hapmap];0.81[AFR][1000 genomes]
rs2476022	0.84[AFR][1000 genomes]
rs2494272	0.84[AFR][1000 genomes]
rs2759660	0.82[YRI][hapmap];0.84[AFR][1000 genomes]
rs2821099	0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2821100	0.84[AFR][1000 genomes]
rs2821105	0.81[LWK][hapmap];1.00[MEX][hapmap]
rs2821124	1.00[MEX][hapmap]
rs3888104	0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs3902057	0.88[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4244150	1.00[ASW][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[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4335404	0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4428919	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4915243	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4989560	0.87[AMR][1000 genomes]
rs516640	1.00[MEX][hapmap]
rs6428401	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6428402	0.87[AMR][1000 genomes]
rs6428405	0.87[AMR][1000 genomes]
rs6428406	0.87[AMR][1000 genomes]
rs6428408	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6656674	0.87[AMR][1000 genomes]
rs6664766	0.87[AMR][1000 genomes]
rs6670147	0.87[AMR][1000 genomes]
rs6678240	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6678776	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6684593	0.88[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6686241	0.87[AMR][1000 genomes]
rs6689739	0.87[AMR][1000 genomes]
rs6691940	0.86[YRI][hapmap];0.87[AMR][1000 genomes]
rs6694254	0.87[AMR][1000 genomes]
rs7514167	0.88[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes]
rs7515671	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7515749	0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7525737	0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7530158	0.87[AMR][1000 genomes]
rs927511	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs980370	0.80[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs980371	0.88[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][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	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1014039	chr1:197311285-197529212	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197388800-197407000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:197388800-197407000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr1:197389600-197405800	Weak transcription	Brain Germinal Matrix	brain
4	chr1:197398800-197404200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:197399600-197403800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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