Variant report

Variant	rs658756
Chromosome Location	chr18:44431832-44431833
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	chr18:44431175..44433784-chr18:44497358..44499614,2	K562	blood:

Variant related genes	Relation type
ENSG00000167216	Chromatin interaction
ENSG00000078043	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10070	0.90[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs10853544	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10853545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10853547	0.88[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.86[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11082562	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11659693	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11660085	0.85[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap]
rs1465722	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs1539878	0.89[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1539881	0.95[ASN][1000 genomes]
rs1789152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1893427	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1970668	0.80[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap]
rs2010834	0.89[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap];0.93[YRI][hapmap];0.83[EUR][1000 genomes]
rs2032215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051292	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs2156049	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2156050	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2187090	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2187092	0.89[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2510443	0.82[EUR][1000 genomes]
rs2510444	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2571024	0.84[EUR][1000 genomes]
rs2571026	0.83[EUR][1000 genomes]
rs2571028	0.85[CHB][hapmap];0.94[JPT][hapmap];0.85[YRI][hapmap]
rs2576040	0.82[GIH][hapmap]
rs2576042	0.82[GIH][hapmap]
rs2576050	0.85[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap]
rs2576051	0.83[EUR][1000 genomes]
rs2956973	0.81[EUR][1000 genomes]
rs2957007	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3744863	0.84[EUR][1000 genomes]
rs3892820	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4258717	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4548968	0.88[EUR][1000 genomes]
rs477826	0.90[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs478820	0.90[ASN][1000 genomes]
rs4890341	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4890342	0.80[EUR][1000 genomes]
rs4890343	0.85[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap]
rs4890347	0.80[ASN][1000 genomes]
rs4890698	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs4890699	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[EUR][1000 genomes]
rs4890703	0.87[EUR][1000 genomes]
rs4890707	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs501062	0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs501882	0.88[JPT][hapmap]
rs504668	0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs509647	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs513775	0.92[CHD][hapmap];0.98[GIH][hapmap];0.85[ASN][1000 genomes]
rs530205	1.00[GIH][hapmap];0.88[JPT][hapmap]
rs538221	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs541634	0.92[ASN][1000 genomes]
rs553456	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs557089	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs557661	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs577200	0.92[CEU][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs578146	0.94[ASN][1000 genomes]
rs578451	0.88[JPT][hapmap]
rs58993513	0.95[ASN][1000 genomes]
rs590923	0.95[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs593340	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs605487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs607780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs616900	0.90[CHB][hapmap];0.94[JPT][hapmap];0.80[YRI][hapmap];0.94[ASN][1000 genomes]
rs620228	0.87[ASN][1000 genomes]
rs626217	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs641366	0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs642897	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs644731	0.95[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs646128	1.00[GIH][hapmap];0.88[JPT][hapmap]
rs649076	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6507709	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6507714	0.87[EUR][1000 genomes]
rs680018	0.88[JPT][hapmap]
rs693503	0.90[ASN][1000 genomes]
rs695001	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7227700	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs7234570	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7240239	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7244013	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7244778	0.89[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.87[TSI][hapmap];0.93[YRI][hapmap];0.88[EUR][1000 genomes]
rs7245049	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8086286	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8089938	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8091984	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8094654	0.85[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap]
rs8095373	0.89[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.84[MKK][hapmap];0.89[TSI][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs892586	0.85[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap]
rs9304336	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9304337	0.92[CEU][hapmap];0.98[TSI][hapmap];0.93[EUR][1000 genomes]
rs9304338	0.91[EUR][1000 genomes]
rs9304340	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9945443	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9948405	0.85[ASN][1000 genomes]
rs9954336	0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9962523	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs998819	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2763189	chr18:44415779-44515384	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv833639	chr18:44426363-44552719	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv999328	chr18:44431002-44438662	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1059378	chr18:44431832-44509052	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs658756	ST8SIA5	cis	cerebellum	SCAN
rs658756	PIAS2	cis	multi-tissue	Pritchard
rs658756	ST8SIA5	cis	lymphoblastoid	seeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44381400-44433000	Weak transcription	Gastric	stomach
2	chr18:44382200-44437000	Weak transcription	Right Ventricle	heart
3	chr18:44391000-44432400	Weak transcription	Fetal Stomach	stomach
4	chr18:44391800-44448400	Weak transcription	Pancreas	Pancrea
5	chr18:44392600-44447800	Weak transcription	Esophagus	oesophagus
6	chr18:44393200-44433800	Weak transcription	Colonic Mucosa	Colon
7	chr18:44394400-44434000	Weak transcription	Fetal Kidney	kidney
8	chr18:44394800-44437800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:44397000-44441200	Weak transcription	Hela-S3	cervix
10	chr18:44399200-44434000	Weak transcription	Fetal Brain Female	brain
11	chr18:44399200-44457000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr18:44399600-44434400	Weak transcription	Fetal Intestine Small	intestine
13	chr18:44399600-44437600	Weak transcription	Small Intestine	intestine
14	chr18:44400000-44448200	Weak transcription	Spleen	Spleen
15	chr18:44401200-44432200	Weak transcription	Fetal Intestine Large	intestine
16	chr18:44401400-44436600	Weak transcription	Psoas Muscle	Psoas
17	chr18:44401400-44437600	Weak transcription	HMEC	breast
18	chr18:44402000-44440800	Weak transcription	A549	lung
19	chr18:44404000-44448000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr18:44405400-44443400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr18:44406000-44447200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr18:44406800-44433600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr18:44407400-44447800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr18:44407600-44453200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr18:44408000-44433800	Weak transcription	NH-A	brain
26	chr18:44408000-44438000	Weak transcription	Colon Smooth Muscle	Colon
27	chr18:44408200-44436800	Weak transcription	Brain Germinal Matrix	brain
28	chr18:44408400-44432200	Weak transcription	Fetal Thymus	thymus
29	chr18:44408400-44432400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr18:44408400-44432400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr18:44408400-44433800	Weak transcription	Osteobl	bone
32	chr18:44408600-44436800	Weak transcription	NHLF	lung
33	chr18:44408600-44448200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr18:44408800-44432400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr18:44408800-44433800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr18:44408800-44448200	Weak transcription	Lung	lung
37	chr18:44409200-44432600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr18:44409200-44434000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr18:44409400-44432400	Weak transcription	Fetal Muscle Leg	muscle
40	chr18:44409400-44432800	Weak transcription	Ovary	ovary
41	chr18:44409400-44433600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr18:44409400-44437200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr18:44409400-44447400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr18:44409600-44433800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr18:44409800-44432800	Weak transcription	Thymus	Thymus
46	chr18:44409800-44433800	Weak transcription	Left Ventricle	heart
47	chr18:44409800-44436400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr18:44410000-44433800	Weak transcription	Fetal Lung	lung
49	chr18:44410000-44433800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr18:44410000-44433800	Weak transcription	Rectal Mucosa Donor 31	rectum

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