Variant report

Variant	rs17638991
Chromosome Location	chr3:28350969-28350970
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 127 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs1037723	0.81[ASN][1000 genomes]
rs11706332	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11707705	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs11710963	0.85[ASN][1000 genomes]
rs11712484	0.86[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs11712489	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs11720107	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.84[ASN][1000 genomes]
rs11918050	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11921692	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs11921943	1.00[CHB][hapmap]
rs11924173	0.86[ASN][1000 genomes]
rs11926399	0.84[ASN][1000 genomes]
rs12107256	0.85[CHB][hapmap];0.84[CHD][hapmap];0.88[JPT][hapmap];0.89[MEX][hapmap];0.88[ASN][1000 genomes]
rs13074633	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13075840	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs13080155	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13081520	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13081787	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13082167	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs13083544	0.85[CHB][hapmap];0.88[JPT][hapmap];0.89[MEX][hapmap];0.86[ASN][1000 genomes]
rs13085075	1.00[CHB][hapmap];0.90[CHD][hapmap];0.82[ASN][1000 genomes]
rs13085245	0.88[ASN][1000 genomes]
rs13087143	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.84[ASN][1000 genomes]
rs13087774	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.87[YRI][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13088574	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];0.87[TSI][hapmap];0.84[ASN][1000 genomes]
rs13090296	0.85[CHB][hapmap];0.88[JPT][hapmap];0.83[MEX][hapmap];0.81[ASN][1000 genomes]
rs13090439	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13092618	0.84[ASN][1000 genomes]
rs13093242	0.85[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs13095628	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.86[ASN][1000 genomes]
rs13095675	1.00[CHB][hapmap]
rs13099152	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13101128	0.82[ASN][1000 genomes]
rs1457910	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[YRI][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1585211	1.00[CHB][hapmap];0.80[CHD][hapmap]
rs1598846	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.93[TSI][hapmap];0.87[YRI][hapmap]
rs1599826	0.92[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs1606386	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1606388	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.80[MKK][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1610238	0.85[CHB][hapmap];0.83[MEX][hapmap]
rs17021221	0.85[CHB][hapmap]
rs17021306	0.85[CHB][hapmap];0.84[CHD][hapmap];0.88[JPT][hapmap];0.83[MEX][hapmap];0.88[ASN][1000 genomes]
rs17021402	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs17357206	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17638742	0.95[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17638782	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17639978	0.91[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap]
rs17695765	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.94[MEX][hapmap];0.80[MKK][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17695884	0.91[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17696025	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.88[JPT][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17696459	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.87[YRI][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17696561	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17696783	0.86[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap];0.89[MEX][hapmap];0.83[TSI][hapmap];0.81[ASN][1000 genomes]
rs1870259	1.00[CHB][hapmap];0.80[CHD][hapmap]
rs2016948	0.88[ASN][1000 genomes]
rs2168799	1.00[CHB][hapmap];0.80[CHD][hapmap]
rs34017994	0.88[ASN][1000 genomes]
rs34311197	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34419916	0.88[ASN][1000 genomes]
rs34541614	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34574968	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34748842	0.83[ASN][1000 genomes]
rs34796684	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35088087	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35177150	0.81[ASN][1000 genomes]
rs35217335	0.88[ASN][1000 genomes]
rs35232922	0.88[ASN][1000 genomes]
rs35439056	0.85[ASN][1000 genomes]
rs35460328	0.88[ASN][1000 genomes]
rs35496780	0.88[ASN][1000 genomes]
rs35530532	0.88[ASN][1000 genomes]
rs35565264	0.88[ASN][1000 genomes]
rs35678778	0.85[ASN][1000 genomes]
rs35702956	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35736614	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35768817	0.88[ASN][1000 genomes]
rs35825908	0.81[ASN][1000 genomes]
rs35845822	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35937120	0.85[ASN][1000 genomes]
rs36051688	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs36105900	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3762797	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4452283	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[YRI][hapmap];0.86[ASN][1000 genomes]
rs4522735	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4680909	1.00[CHB][hapmap];0.85[CHD][hapmap];0.80[ASN][1000 genomes]
rs4680913	1.00[CHB][hapmap];0.80[CHD][hapmap]
rs56946005	0.85[ASN][1000 genomes]
rs58918848	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59975750	0.85[ASN][1000 genomes]
rs60043893	0.85[ASN][1000 genomes]
rs62250271	0.84[ASN][1000 genomes]
rs62250272	0.84[ASN][1000 genomes]
rs62250273	0.83[ASN][1000 genomes]
rs62250296	0.81[ASN][1000 genomes]
rs62251105	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62251108	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62251131	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62251134	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62251138	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62251144	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62252069	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6551255	0.86[ASN][1000 genomes]
rs66502736	0.89[ASN][1000 genomes]
rs66716911	0.88[ASN][1000 genomes]
rs66733194	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67023418	0.88[ASN][1000 genomes]
rs6771057	1.00[CHB][hapmap];0.80[CHD][hapmap]
rs6771460	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs6803692	1.00[CHB][hapmap]
rs68085718	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs68097246	0.85[ASN][1000 genomes]
rs71087683	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7434193	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[YRI][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7635383	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7638450	0.84[ASN][1000 genomes]
rs7639750	1.00[CHB][hapmap]
rs7641491	1.00[CHB][hapmap];0.90[CHD][hapmap];0.82[ASN][1000 genomes]
rs7643191	0.85[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[YRI][hapmap]
rs7649498	1.00[CHB][hapmap];0.80[CHD][hapmap]
rs7650831	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7651883	1.00[CHB][hapmap];0.80[CHD][hapmap]
rs952888	0.95[CEU][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9683360	0.81[ASN][1000 genomes]
rs969443	0.86[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs9843464	1.00[CHB][hapmap];0.80[CHD][hapmap]

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	esv3328565	chr3:27991169-28915035	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv876649	chr3:28126595-28718454	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17638991	SSTR2	trans	brain	seeQTL

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28314400-28365400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:28315000-28363000	Weak transcription	A549	lung
3	chr3:28317600-28380000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr3:28317600-28389400	Weak transcription	Esophagus	oesophagus
5	chr3:28326400-28365400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr3:28332800-28360000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr3:28332800-28360200	Weak transcription	Left Ventricle	heart
8	chr3:28332800-28360400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:28332800-28362400	Weak transcription	Primary B cells from cord blood	blood
10	chr3:28332800-28365200	Weak transcription	HSMMtube	muscle
11	chr3:28332800-28365400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr3:28336800-28359400	Weak transcription	K562	blood
13	chr3:28337200-28365200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr3:28337400-28360400	Weak transcription	Liver	Liver
15	chr3:28337400-28361000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr3:28337400-28363000	Weak transcription	GM12878-XiMat	blood
17	chr3:28337600-28356600	Weak transcription	Ovary	ovary
18	chr3:28337600-28360200	Weak transcription	Fetal Lung	lung
19	chr3:28337600-28360200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr3:28337600-28361000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:28337800-28355400	Weak transcription	Primary T cells from cord blood	blood
22	chr3:28338000-28359600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr3:28338000-28360200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:28338000-28360600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:28338200-28364000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr3:28339600-28359200	Weak transcription	Dnd41	blood
27	chr3:28343800-28383800	Weak transcription	Aorta	Aorta
28	chr3:28347400-28360000	Weak transcription	Fetal Intestine Large	intestine
29	chr3:28348600-28360000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr3:28348600-28365200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr3:28349000-28365400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr3:28349400-28351600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr3:28349400-28364200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr3:28349400-28365600	Weak transcription	Psoas Muscle	Psoas
35	chr3:28349600-28365400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr3:28349800-28359800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr3:28349800-28389400	Weak transcription	Gastric	stomach
38	chr3:28350000-28359600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr3:28350000-28363800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:28350000-28376800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr3:28350200-28361600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:28350400-28365400	Weak transcription	Colon Smooth Muscle	Colon
43	chr3:28350600-28351400	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr3:28350600-28360200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr3:28350800-28351200	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr3:28350800-28353200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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