Variant report

Variant	rs4566234
Chromosome Location	chr17:38414349-38414350
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs11078939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11078940	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12944717	0.84[ASN][1000 genomes]
rs12946680	0.93[CEU][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13706	0.81[CHD][hapmap];0.94[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap]
rs16965666	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs16965687	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.86[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1807273	0.84[AMR][1000 genomes]
rs2077464	0.93[CEU][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs2120200	0.80[CHD][hapmap];0.94[GIH][hapmap];0.89[TSI][hapmap]
rs2280400	0.94[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap]
rs2314338	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs28537537	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28663197	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35286757	0.84[EUR][1000 genomes]
rs36030243	0.81[CHD][hapmap];0.94[GIH][hapmap];0.89[TSI][hapmap]
rs3744806	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs4077125	0.91[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4134994	0.92[EUR][1000 genomes]
rs55656553	0.86[AMR][1000 genomes]
rs55835834	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55991953	0.81[ASN][1000 genomes]
rs56029626	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57179137	0.91[EUR][1000 genomes]
rs58822685	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59018914	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59406133	0.80[AMR][1000 genomes]
rs59490243	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59861136	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60220138	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs61024420	0.83[ASN][1000 genomes]
rs6503539	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67597966	0.85[ASN][1000 genomes]
rs7211770	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs7217852	0.93[CEU][hapmap];0.81[CHD][hapmap];0.94[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs72836633	0.81[ASN][1000 genomes]
rs72836634	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72836635	0.85[ASN][1000 genomes]
rs72836636	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72836639	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72836640	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72836641	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72836642	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72836648	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72836651	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72836653	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72836656	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72836660	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7359537	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73983025	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7405635	1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap]
rs8066144	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap]
rs8073925	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs8078204	0.87[ASN][1000 genomes]
rs8078226	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8080931	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8082192	0.94[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap]
rs9303285	0.93[CEU][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes]
rs9303286	0.85[CEU][hapmap]
rs9891694	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9891718	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9892404	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9892946	0.91[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9893520	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9895163	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9897092	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9901109	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs9904021	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9904270	0.81[CHD][hapmap];0.94[GIH][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes]
rs9906409	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9907683	0.92[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs9908034	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9908257	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9908354	0.81[ASN][1000 genomes]
rs9910197	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9910788	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9911840	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9912082	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9914531	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9916460	0.91[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9916782	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38376600-38416800	Weak transcription	Aorta	Aorta
2	chr17:38377000-38418400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:38390800-38416600	Weak transcription	Gastric	stomach
4	chr17:38391200-38416800	Weak transcription	Esophagus	oesophagus
5	chr17:38391400-38414600	Weak transcription	Primary B cells from cord blood	blood
6	chr17:38406800-38416800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr17:38407800-38429800	Weak transcription	Stomach Mucosa	stomach
8	chr17:38408200-38420600	Weak transcription	K562	blood
9	chr17:38408200-38421800	Weak transcription	Fetal Heart	heart
10	chr17:38408600-38416400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr17:38408600-38418600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr17:38408600-38420200	Weak transcription	Small Intestine	intestine
13	chr17:38408600-38420600	Weak transcription	Right Ventricle	heart
14	chr17:38408600-38420800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr17:38408800-38418400	Weak transcription	Psoas Muscle	Psoas
16	chr17:38409600-38437400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr17:38409800-38434800	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr17:38409800-38439400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr17:38410200-38414800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr17:38410400-38416800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr17:38411000-38438800	Strong transcription	Fetal Intestine Small	intestine
22	chr17:38411000-38439800	Strong transcription	Fetal Stomach	stomach
23	chr17:38411600-38422400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr17:38411600-38424800	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr17:38411800-38421800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr17:38412000-38416000	Weak transcription	Fetal Brain Male	brain
27	chr17:38412000-38430200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr17:38412200-38415400	Strong transcription	Brain Substantia Nigra	brain
29	chr17:38412200-38417000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr17:38412200-38422800	Strong transcription	HepG2	liver
31	chr17:38412200-38425000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr17:38412200-38430200	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr17:38412200-38434800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr17:38412200-38438400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr17:38412200-38439800	Strong transcription	Fetal Thymus	thymus
36	chr17:38412400-38414400	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr17:38412400-38414400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr17:38412400-38414400	Strong transcription	Fetal Lung	lung
39	chr17:38412400-38414600	Strong transcription	A549	lung
40	chr17:38412400-38414600	Strong transcription	Dnd41	blood
41	chr17:38412400-38416000	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr17:38412400-38417200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr17:38412400-38419400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
44	chr17:38412400-38419600	Strong transcription	HSMM	muscle
45	chr17:38412400-38423400	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr17:38412400-38424400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr17:38412400-38424600	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr17:38412400-38424800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr17:38412400-38425000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr17:38412400-38425200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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