Variant report

Variant	rs13382185
Chromosome Location	chr2:180059627-180059628
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10164707	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10164814	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174774	0.86[TSI][hapmap]
rs10176829	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10177122	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10177402	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10181291	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10181464	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10182477	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10185803	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10188759	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10194420	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10194534	0.85[EUR][1000 genomes]
rs10196366	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10204985	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10209183	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10209887	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10439300	0.90[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes]
rs10803924	0.89[JPT][hapmap]
rs10930859	0.85[EUR][1000 genomes]
rs11687139	0.82[AFR][1000 genomes]
rs11898291	0.84[TSI][hapmap]
rs12105846	0.85[EUR][1000 genomes]
rs12617002	0.94[ASW][hapmap];0.94[CHD][hapmap];0.82[JPT][hapmap];0.82[LWK][hapmap];0.85[MKK][hapmap];0.90[YRI][hapmap];0.80[ASN][1000 genomes]
rs12621023	1.00[CEU][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12621115	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12622075	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12623243	0.80[ASN][1000 genomes]
rs12693177	0.81[YRI][hapmap]
rs12693179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12987285	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12997314	0.84[TSI][hapmap]
rs13020645	0.80[ASN][1000 genomes]
rs13384403	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13392996	0.80[ASN][1000 genomes]
rs13396340	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13414296	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13417919	0.80[ASN][1000 genomes]
rs13418701	0.84[TSI][hapmap]
rs1374378	0.84[TSI][hapmap]
rs1446674	0.82[TSI][hapmap]
rs17454311	0.95[CEU][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.81[MEX][hapmap]
rs1844763	0.89[YRI][hapmap]
rs2007593	0.86[EUR][1000 genomes]
rs2166534	0.96[YRI][hapmap];0.82[AFR][1000 genomes]
rs2289992	0.84[TSI][hapmap]
rs28838656	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs340320	0.86[JPT][hapmap]
rs340332	0.90[JPT][hapmap]
rs340334	0.90[JPT][hapmap]
rs4585064	0.82[TSI][hapmap]
rs4894082	0.93[YRI][hapmap]
rs57098667	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6433760	0.84[TSI][hapmap]
rs6433764	0.84[TSI][hapmap]
rs6433770	0.83[EUR][1000 genomes]
rs67043078	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6707081	0.84[TSI][hapmap]
rs6731614	0.80[ASN][1000 genomes]
rs6743405	0.84[TSI][hapmap]
rs6743412	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6759983	0.94[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.85[LWK][hapmap];0.89[MKK][hapmap];0.84[TSI][hapmap];0.90[YRI][hapmap];0.80[ASN][1000 genomes]
rs7420537	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7569887	0.94[ASW][hapmap];0.84[CEU][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];0.89[LWK][hapmap];0.89[MKK][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7585600	0.84[TSI][hapmap]
rs7601366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7608745	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7608882	0.84[TSI][hapmap]
rs9288025	0.83[CEU][hapmap];0.90[JPT][hapmap]
rs9288026	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9653299	0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv834471	chr2:179974303-180123027	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv1807721	chr2:180024167-180076733	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1826248	chr2:180056341-180072860	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1842731	chr2:180056341-180076733	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv511167	chr2:180056341-180076733	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv3061	chr2:180057194-180095718	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv820056	chr2:180058961-180070761	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs13382185	SESTD1	Cis_1M	lymphoblastoid	RTeQTL
rs13382185	SSFA2	cis	parietal	SCAN
rs13382185	SESTD1	cis	cerebellum	SCAN
rs13382185	SESTD1	cis	parietal	SCAN
rs13382185	SESTD1	cis	multi-tissue	Pritchard

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179998000-180060600	Weak transcription	Right Ventricle	heart
2	chr2:180015000-180060600	Weak transcription	Lung	lung
3	chr2:180015400-180060600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:180032200-180067600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:180046400-180061000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:180055200-180066800	Weak transcription	Fetal Kidney	kidney
7	chr2:180056200-180060400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:180056200-180066800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:180056400-180059800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr2:180057200-180060000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:180058400-180060000	Enhancers	Adipose Nuclei	Adipose
12	chr2:180058800-180059800	Enhancers	Gastric	stomach
13	chr2:180058800-180059800	Enhancers	Ovary	ovary
14	chr2:180058800-180060200	Enhancers	HepG2	liver
15	chr2:180058800-180060400	Enhancers	Brain Hippocampus Middle	brain
16	chr2:180059000-180060000	Weak transcription	Primary B cells from cord blood	blood
17	chr2:180059000-180060000	Weak transcription	Brain Anterior Caudate	brain
18	chr2:180059200-180060400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:180059400-180060400	Enhancers	Colon Smooth Muscle	Colon
20	chr2:180059600-180060000	Enhancers	Primary T cells fromperipheralblood	blood
21	chr2:180059600-180060800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
22	chr2:180059600-180063400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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