Variant report

Variant	rs192511
Chromosome Location	chr17:19699358-19699359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs115326	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs118943	1.00[CEU][hapmap];0.93[GIH][hapmap];0.84[EUR][1000 genomes]
rs123081	0.85[EUR][1000 genomes]
rs123082	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs150122	1.00[CEU][hapmap];0.93[GIH][hapmap];0.97[EUR][1000 genomes]
rs157387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs157388	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs157389	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs157390	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs157391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs157392	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs157393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs157394	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs157395	1.00[CEU][hapmap];0.93[GIH][hapmap];0.97[EUR][1000 genomes]
rs157396	1.00[CEU][hapmap];0.93[GIH][hapmap];0.97[EUR][1000 genomes]
rs157397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs157399	0.91[EUR][1000 genomes]
rs157400	0.97[EUR][1000 genomes]
rs157401	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs157402	1.00[CEU][hapmap];0.89[GIH][hapmap];0.97[EUR][1000 genomes]
rs157403	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs157405	1.00[CEU][hapmap]
rs157406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs157407	0.83[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.83[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs157408	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs157409	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs166838	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs166839	0.97[EUR][1000 genomes]
rs169460	0.88[EUR][1000 genomes]
rs169512	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs169513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs172186	1.00[CEU][hapmap];0.89[GIH][hapmap];0.93[EUR][1000 genomes]
rs176098	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs182214	0.97[EUR][1000 genomes]
rs184006	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs188138	1.00[CEU][hapmap];0.93[GIH][hapmap];0.97[EUR][1000 genomes]
rs205090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs205093	1.00[CEU][hapmap];0.93[GIH][hapmap];0.84[EUR][1000 genomes]
rs205094	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs205095	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs205096	1.00[CEU][hapmap];0.93[GIH][hapmap];0.84[EUR][1000 genomes]
rs205097	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs205098	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs205099	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs205100	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs205103	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs205104	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs205105	0.97[EUR][1000 genomes]
rs205106	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs205107	1.00[CEU][hapmap];0.93[GIH][hapmap];0.84[EUR][1000 genomes]
rs205108	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs205109	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs205110	1.00[CEU][hapmap];0.93[GIH][hapmap];0.84[EUR][1000 genomes]
rs205111	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs205112	0.84[EUR][1000 genomes]
rs205113	0.84[EUR][1000 genomes]
rs2385963	0.97[EUR][1000 genomes]
rs281325	0.91[EUR][1000 genomes]
rs281326	0.97[EUR][1000 genomes]
rs281327	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs281328	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs281329	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs281331	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs281332	1.00[CEU][hapmap];0.93[GIH][hapmap];0.94[EUR][1000 genomes]
rs281333	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs281334	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs281336	0.93[EUR][1000 genomes]
rs281337	0.97[EUR][1000 genomes]
rs281338	0.94[EUR][1000 genomes]
rs281339	0.91[EUR][1000 genomes]
rs281341	0.97[EUR][1000 genomes]
rs281342	1.00[CEU][hapmap];0.93[GIH][hapmap];0.97[EUR][1000 genomes]
rs281343	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs281344	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs281345	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs281346	1.00[CEU][hapmap];0.93[GIH][hapmap];0.97[EUR][1000 genomes]
rs281347	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs281348	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs281349	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs281350	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs281351	1.00[CEU][hapmap];0.93[GIH][hapmap];0.97[EUR][1000 genomes]
rs281352	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs281353	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs281354	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs281355	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs281356	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs281365	0.97[EUR][1000 genomes]
rs3098902	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3098905	0.97[EUR][1000 genomes]
rs3098906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3098907	0.97[EUR][1000 genomes]
rs3098908	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3098909	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3098910	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3101810	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3101811	0.97[EUR][1000 genomes]
rs3101812	0.97[EUR][1000 genomes]
rs3101813	0.97[EUR][1000 genomes]
rs3101814	1.00[CEU][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3101815	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs34372768	0.97[EUR][1000 genomes]
rs367383	0.97[EUR][1000 genomes]
rs379703	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs383948	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs383951	0.93[EUR][1000 genomes]
rs394008	0.85[ASN][1000 genomes]
rs395130	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs421561	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs445958	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4586510	0.97[EUR][1000 genomes]
rs4924800	0.97[EUR][1000 genomes]
rs4925047	0.84[EUR][1000 genomes]
rs6587203	1.00[CEU][hapmap];0.89[GIH][hapmap];0.84[EUR][1000 genomes]
rs7225417	0.84[EUR][1000 genomes]
rs917519	1.00[CEU][hapmap];0.86[GIH][hapmap];0.84[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	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1061489	chr17:19654704-19705026	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv482398	chr17:19673458-19808039	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1057469	chr17:19696714-19787062	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19670200-19699400	Weak transcription	Psoas Muscle	Psoas
2	chr17:19673800-19769800	Weak transcription	NH-A	brain
3	chr17:19676800-19699400	Weak transcription	Thymus	Thymus
4	chr17:19677800-19700000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr17:19678200-19712000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr17:19679200-19699400	Strong transcription	Fetal Stomach	stomach
7	chr17:19679600-19700000	Weak transcription	HMEC	breast
8	chr17:19679600-19701000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr17:19680000-19726800	Weak transcription	NHLF	lung
10	chr17:19682200-19699400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr17:19682400-19699400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr17:19690200-19709000	Strong transcription	Adipose Nuclei	Adipose
13	chr17:19690800-19699800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr17:19690800-19707600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr17:19691000-19699800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:19691000-19705200	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr17:19691600-19699400	Weak transcription	Spleen	Spleen
18	chr17:19691800-19702000	Strong transcription	Brain Hippocampus Middle	brain
19	chr17:19692600-19699400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr17:19692600-19699400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr17:19692600-19699400	Weak transcription	Esophagus	oesophagus
22	chr17:19692600-19699400	Weak transcription	HSMMtube	muscle
23	chr17:19692800-19699400	Weak transcription	Colon Smooth Muscle	Colon
24	chr17:19692800-19699400	Weak transcription	Gastric	stomach
25	chr17:19692800-19699400	Weak transcription	Pancreas	Pancrea
26	chr17:19693000-19699400	Weak transcription	NHEK	skin
27	chr17:19693000-19702000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr17:19694400-19699400	Strong transcription	Left Ventricle	heart
29	chr17:19694600-19701000	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr17:19695400-19700000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr17:19695400-19702000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr17:19695600-19701200	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr17:19695600-19701800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr17:19695600-19701800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr17:19695600-19701800	Strong transcription	Stomach Smooth Muscle	stomach
36	chr17:19695600-19702000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr17:19695800-19702000	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr17:19696000-19701000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
39	chr17:19696000-19701400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr17:19696000-19702000	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr17:19696200-19699400	Strong transcription	Placenta	Placenta
42	chr17:19696200-19699400	Strong transcription	Ovary	ovary
43	chr17:19696200-19704200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr17:19696200-19707600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr17:19696400-19701000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
46	chr17:19696400-19702000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
47	chr17:19696400-19702000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr17:19696600-19699400	Weak transcription	Lung	lung
49	chr17:19696600-19701400	Strong transcription	HSMM	muscle
50	chr17:19696600-19702000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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