Variant report

Variant	rs4244150
Chromosome Location	chr1:197413628-197413629
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:197407589..197409949-chr1:197413313..197415578,2	MCF-7	breast:
2	chr1:197411700..197415475-chr1:197416632..197421884,5	K562	blood:
3	chr1:197406975..197410030-chr1:197411436..197415376,3	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

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];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10494753	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.91[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];0.91[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];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1570413	0.88[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.81[YRI][hapmap];0.86[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	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1923760	0.80[YRI][hapmap]
rs1923761	0.82[AFR][1000 genomes]
rs1923763	0.81[YRI][hapmap];0.82[AFR][1000 genomes]
rs1951697	0.81[YRI][hapmap];0.82[AFR][1000 genomes]
rs1998433	0.87[AMR][1000 genomes]
rs2146484	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2146485	0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2160967	0.87[AMR][1000 genomes]
rs2181373	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2359119	0.87[AMR][1000 genomes]
rs2476017	0.81[YRI][hapmap]
rs2476022	0.82[AFR][1000 genomes]
rs2494272	0.82[AFR][1000 genomes]
rs2759660	0.81[YRI][hapmap];0.82[AFR][1000 genomes]
rs2821099	0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2821100	0.82[AFR][1000 genomes]
rs2821105	0.81[LWK][hapmap];1.00[MEX][hapmap]
rs2821124	1.00[MEX][hapmap]
rs3888104	0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs3902057	0.88[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4335404	0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4428919	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[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	1.00[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];0.88[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6684593	0.88[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6686241	0.87[AMR][1000 genomes]
rs6689739	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6691940	0.85[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];0.85[YRI][hapmap];0.87[AMR][1000 genomes]
rs7515671	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7515749	0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7525737	0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7530158	0.87[AMR][1000 genomes]
rs927511	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs942050	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]
rs980370	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs980371	0.88[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.81[YRI][hapmap];0.86[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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197407600-197414200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:197407800-197413800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:197409800-197414000	Weak transcription	Brain Anterior Caudate	brain
4	chr1:197410200-197414000	Weak transcription	Ovary	ovary
5	chr1:197410200-197417000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:197411400-197414000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:197411800-197432000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:197412000-197433200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:197412200-197420200	Weak transcription	Hela-S3	cervix
10	chr1:197412600-197413800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:197413600-197414600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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