Variant report

Variant	rs4436991
Chromosome Location	chr2:73843631-73843632
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73842508..73845608-chr2:73846002..73848469,3	K562	blood:
2	chr2:73842404..73844324-chr2:73845193..73847014,2	MCF-7	breast:

Extended variants
information (count: 133 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10190002	0.84[CHB][hapmap];0.97[CHD][hapmap];0.93[JPT][hapmap]
rs10192125	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10197233	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1052161	0.83[CHD][hapmap];0.87[JPT][hapmap]
rs1083920	0.84[EUR][1000 genomes]
rs1083922	1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[JPT][hapmap]
rs10865398	0.84[CHB][hapmap];0.97[CHD][hapmap];0.87[JPT][hapmap]
rs1091568	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11126407	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11126408	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11126409	0.86[EUR][1000 genomes]
rs11126411	0.81[CEU][hapmap];0.80[AMR][1000 genomes]
rs11680056	0.93[EUR][1000 genomes]
rs11683970	0.94[EUR][1000 genomes]
rs11685372	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11689767	0.89[EUR][1000 genomes]
rs12151671	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1246096	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1246105	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12478871	1.00[CEU][hapmap];0.80[AMR][1000 genomes]
rs12618600	0.97[CHD][hapmap];0.93[JPT][hapmap]
rs12620018	0.87[JPT][hapmap]
rs12620091	0.85[CHD][hapmap]
rs12620569	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12713783	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13007306	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13007623	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13009035	0.89[ASN][1000 genomes]
rs13017182	0.91[CHD][hapmap]
rs1320374	0.83[CHD][hapmap];0.87[JPT][hapmap]
rs1406105	0.94[CHD][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap]
rs17349804	0.94[EUR][1000 genomes]
rs1852645	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1852647	0.81[EUR][1000 genomes]
rs1879662	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1879666	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1881246	0.84[CHB][hapmap];0.87[JPT][hapmap]
rs1881247	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1881248	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2017116	0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs2037814	0.91[CEU][hapmap];0.84[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2280506	0.91[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2280507	1.00[CEU][hapmap];0.80[YRI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2421581	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2421582	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs2421583	0.93[JPT][hapmap]
rs2421585	0.88[EUR][1000 genomes]
rs2421587	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs2421589	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2421590	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2421660	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2421662	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2421667	0.92[ASN][1000 genomes]
rs2421668	0.91[CHD][hapmap]
rs2421669	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2860579	0.80[EUR][1000 genomes]
rs28708576	0.82[EUR][1000 genomes]
rs2947845	0.83[CEU][hapmap];1.00[YRI][hapmap]
rs2948441	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2950770	0.89[EUR][1000 genomes]
rs34719281	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3820700	0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3980696	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4241256	0.94[EUR][1000 genomes]
rs4443018	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4511748	1.00[CEU][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs4627598	0.83[CEU][hapmap];1.00[YRI][hapmap]
rs4852305	0.91[CEU][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4852308	0.89[ASN][1000 genomes]
rs4852309	0.92[EUR][1000 genomes]
rs4852310	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4852311	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4852936	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4852937	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4852940	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4852948	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4852949	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55677218	0.91[EUR][1000 genomes]
rs56054150	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56068325	0.94[EUR][1000 genomes]
rs56770679	0.91[EUR][1000 genomes]
rs6546831	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6546832	0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs6546833	0.84[EUR][1000 genomes]
rs6546834	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6546842	0.92[EUR][1000 genomes]
rs6546858	0.83[YRI][hapmap]
rs6546863	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6546865	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6546870	1.00[CEU][hapmap];0.95[GIH][hapmap];0.80[JPT][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs66931335	0.91[EUR][1000 genomes]
rs6712242	0.86[EUR][1000 genomes]
rs6725284	0.88[EUR][1000 genomes]
rs6729347	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6732440	0.84[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs6734450	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6742619	0.93[JPT][hapmap];0.80[YRI][hapmap]
rs6743576	0.82[ASN][1000 genomes]
rs6744273	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6745480	0.83[YRI][hapmap]
rs6745560	1.00[CHD][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs6746458	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6749680	0.92[CHB][hapmap];0.97[CHD][hapmap];0.87[JPT][hapmap]
rs6759464	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67877078	0.94[EUR][1000 genomes]
rs67898050	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs68154245	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72811939	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7570014	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7579068	1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs7585668	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7598901	0.92[CHB][hapmap];0.91[CHD][hapmap];0.87[JPT][hapmap]
rs7607989	0.83[CEU][hapmap];0.91[GIH][hapmap];0.88[LWK][hapmap];1.00[YRI][hapmap]
rs7608308	0.94[EUR][1000 genomes]
rs7609034	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7609249	0.82[ASN][1000 genomes]
rs780388	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs780389	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs780390	0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs780396	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs802113	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv874267	chr2:73717656-73857002	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1013385	chr2:73822056-74041441	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats 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 target site	20 gene(s)	inside rSNPs	diseases
6	nsv874268	chr2:73837751-73907696	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv874269	chr2:73837751-73914019	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv874270	chr2:73837751-73916672	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1015036	chr2:73840055-73891004	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1006235	chr2:73840055-73896603	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1006033	chr2:73840055-73900856	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv963620	chr2:73841121-73844121	Strong transcription Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4436991	STAMBP	cis	multi-tissue	Pritchard

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73801000-73844000	Weak transcription	Fetal Kidney	kidney
2	chr2:73823000-73844600	Weak transcription	Primary B cells from cord blood	blood
3	chr2:73829400-73845400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:73830600-73847600	Weak transcription	Spleen	Spleen
5	chr2:73830600-73854800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:73836400-73844200	Weak transcription	Adipose Nuclei	Adipose
7	chr2:73836400-73852600	Weak transcription	Ovary	ovary
8	chr2:73837400-73845000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:73838000-73845200	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:73838400-73844200	Weak transcription	Fetal Lung	lung
11	chr2:73838400-73844200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:73838400-73852600	Weak transcription	Right Ventricle	heart
13	chr2:73838600-73843800	Weak transcription	Lung	lung
14	chr2:73838600-73845200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:73838600-73845400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:73838600-73847400	Weak transcription	Brain Angular Gyrus	brain
17	chr2:73838600-73852600	Weak transcription	Pancreas	Pancrea
18	chr2:73838800-73845800	Weak transcription	Fetal Stomach	stomach
19	chr2:73838800-73846600	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:73838800-73849600	Weak transcription	Brain Germinal Matrix	brain
21	chr2:73839200-73844000	Strong transcription	Brain Inferior Temporal Lobe	brain
22	chr2:73839600-73845600	Weak transcription	Brain Substantia Nigra	brain
23	chr2:73839600-73846400	Weak transcription	Thymus	Thymus
24	chr2:73841800-73844000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:73842200-73844200	Strong transcription	Brain Anterior Caudate	brain
26	chr2:73842600-73847000	Weak transcription	Primary T cells from cord blood	blood
27	chr2:73842600-73852600	Weak transcription	Left Ventricle	heart
28	chr2:73842800-73844800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr2:73843400-73844000	Strong transcription	Fetal Brain Female	brain
30	chr2:73843600-73844200	Strong transcription	Aorta	Aorta

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