Variant report

Variant	rs8013442
Chromosome Location	chr14:65871861-65871862
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	chr14:65868206..65869815-chr14:65870159..65873099,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10138671	0.85[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs10142283	0.96[CEU][hapmap];0.80[YRI][hapmap];0.84[EUR][1000 genomes]
rs10144979	0.96[CEU][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs10150412	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10152007	1.00[CEU][hapmap];0.82[YRI][hapmap];0.85[EUR][1000 genomes]
rs1113962	0.96[CEU][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs11158595	0.94[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11158597	1.00[YRI][hapmap]
rs11623662	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11629437	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11844682	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11848209	1.00[YRI][hapmap]
rs12433597	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs12587057	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12885842	0.92[CEU][hapmap]
rs1889731	1.00[CEU][hapmap];0.80[GIH][hapmap];0.95[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1953415	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1953418	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1958559	0.85[CEU][hapmap]
rs1958560	0.85[CEU][hapmap]
rs1959144	0.96[CEU][hapmap];0.80[GIH][hapmap];0.95[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1959145	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1999725	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2064695	0.85[CEU][hapmap];0.81[TSI][hapmap]
rs2149839	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2152374	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2183277	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2184601	0.96[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2185454	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2210805	0.96[CEU][hapmap];0.87[GIH][hapmap];0.86[LWK][hapmap];0.95[MEX][hapmap];0.80[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2268956	0.86[EUR][1000 genomes]
rs2411354	0.95[YRI][hapmap]
rs2411356	0.89[CEU][hapmap];0.85[YRI][hapmap]
rs2411815	0.94[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];0.92[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs2411820	0.96[CEU][hapmap];0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2411823	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2898814	0.96[CEU][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs2898816	1.00[YRI][hapmap]
rs2898818	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2898820	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3825639	1.00[CEU][hapmap];0.80[GIH][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs4359350	0.98[ASN][1000 genomes]
rs4587890	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.98[ASN][1000 genomes]
rs4899178	0.98[ASN][1000 genomes]
rs4902399	1.00[CEU][hapmap];0.80[GIH][hapmap];0.86[LWK][hapmap];0.95[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4902404	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6573609	0.96[ASN][1000 genomes]
rs6573611	0.98[ASN][1000 genomes]
rs6573612	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6573614	0.85[EUR][1000 genomes]
rs6573615	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.87[TSI][hapmap];0.83[ASN][1000 genomes]
rs6573616	1.00[CEU][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs6573617	0.80[EUR][1000 genomes]
rs6573618	0.87[EUR][1000 genomes]
rs6573619	0.84[YRI][hapmap];0.86[EUR][1000 genomes]
rs7140341	1.00[CEU][hapmap];0.94[YRI][hapmap]
rs7140695	0.87[ASW][hapmap];0.96[CEU][hapmap];0.94[GIH][hapmap];0.92[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7141367	1.00[YRI][hapmap]
rs7141536	0.96[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7142906	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7143318	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7145500	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145759	0.96[CEU][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7146993	1.00[CEU][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs7147002	1.00[CEU][hapmap];0.89[YRI][hapmap];0.85[EUR][1000 genomes]
rs7147536	0.83[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147636	0.88[CEU][hapmap]
rs7150094	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7150448	0.96[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7150648	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7151561	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7157109	0.96[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7158153	1.00[CEU][hapmap];0.86[YRI][hapmap];0.83[EUR][1000 genomes]
rs7160390	1.00[YRI][hapmap]
rs7160780	0.88[CEU][hapmap];0.84[YRI][hapmap]
rs8003464	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8005243	0.86[EUR][1000 genomes]
rs8007497	1.00[CEU][hapmap];0.83[CHB][hapmap];0.87[EUR][1000 genomes]
rs8010726	0.87[ASW][hapmap];0.96[CEU][hapmap];0.90[GIH][hapmap];0.92[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs8011224	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8012834	0.86[ASN][1000 genomes]
rs8017880	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs8019762	0.86[EUR][1000 genomes]
rs8022053	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8022080	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs9323460	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9323461	1.00[CEU][hapmap];0.89[YRI][hapmap];0.85[EUR][1000 genomes]
rs9972106	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832818	chr14:65706859-65882320	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
5	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
6	nsv510639	chr14:65853883-65884315	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8013442	MTHFD1	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65860200-65874600	Weak transcription	Stomach Mucosa	stomach
2	chr14:65864400-65878400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:65869000-65877800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:65870400-65877600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:65870400-65877600	Weak transcription	NHDF-Ad	bronchial
6	chr14:65870600-65877800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:65870800-65878200	Weak transcription	Ovary	ovary
8	chr14:65871000-65877400	Weak transcription	Primary B cells from cord blood	blood

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