Variant report

Variant	rs157390
Chromosome Location	chr17:19704720-19704721
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs115326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs118943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs123081	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs123082	0.97[EUR][1000 genomes]
rs150122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs157387	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs157388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs157389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs157391	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs157392	0.97[EUR][1000 genomes]
rs157393	1.00[CEU][hapmap]
rs157394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs157395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs157396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs157397	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs157399	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs157400	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs157401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs157402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs157403	1.00[EUR][1000 genomes]
rs157405	1.00[CEU][hapmap]
rs157406	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs157408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs157409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs166838	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs166839	1.00[EUR][1000 genomes]
rs169460	0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs169512	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs169513	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs172186	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs176098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs182214	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs184006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs188138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs192511	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs205087	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs205088	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs205090	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs205092	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs205093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs205094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs205096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs205097	0.84[EUR][1000 genomes]
rs205098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs205099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs205100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs205103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs205104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs205105	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs205106	0.97[EUR][1000 genomes]
rs205107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs205108	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs205110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs205111	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs205112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs205113	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2385963	1.00[EUR][1000 genomes]
rs281325	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs281326	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs281327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs281328	0.97[EUR][1000 genomes]
rs281329	0.87[EUR][1000 genomes]
rs281330	0.91[AMR][1000 genomes]
rs281331	0.97[EUR][1000 genomes]
rs281332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs281333	1.00[CEU][hapmap];0.89[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs281334	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs281336	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs281337	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs281338	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs281339	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs281340	0.93[ASN][1000 genomes]
rs281341	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs281342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs281343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs281344	0.97[EUR][1000 genomes]
rs281345	0.97[EUR][1000 genomes]
rs281346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs281347	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs281348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs281349	0.97[EUR][1000 genomes]
rs281350	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs281351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs281352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs281353	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs281354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs281355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs281356	0.97[EUR][1000 genomes]
rs281365	1.00[EUR][1000 genomes]
rs3098902	0.97[EUR][1000 genomes]
rs3098905	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3098906	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs3098907	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3098908	0.97[EUR][1000 genomes]
rs3098909	0.97[EUR][1000 genomes]
rs3101810	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs3101811	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3101812	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3101813	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3101814	1.00[CEU][hapmap];0.84[CHB][hapmap];0.97[EUR][1000 genomes]
rs3101815	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34372768	1.00[EUR][1000 genomes]
rs367383	1.00[EUR][1000 genomes]
rs379703	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs383948	0.93[EUR][1000 genomes]
rs383951	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs394009	0.90[ASN][1000 genomes]
rs395130	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs421561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs445958	0.94[EUR][1000 genomes]
rs4586510	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4924800	1.00[EUR][1000 genomes]
rs4925047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6587203	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7225417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs917519	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19673800-19769800	Weak transcription	NH-A	brain
2	chr17:19678200-19712000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr17:19680000-19726800	Weak transcription	NHLF	lung
4	chr17:19690200-19709000	Strong transcription	Adipose Nuclei	Adipose
5	chr17:19690800-19707600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr17:19691000-19705200	Strong transcription	Duodenum Smooth Muscle	Duodenum
7	chr17:19696200-19707600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr17:19696600-19705200	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr17:19696800-19708600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr17:19698000-19707400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr17:19698000-19709400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr17:19699000-19704800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr17:19700200-19722600	Weak transcription	Esophagus	oesophagus
14	chr17:19700200-19727000	Weak transcription	Right Ventricle	heart
15	chr17:19700400-19705200	Strong transcription	Brain Anterior Caudate	brain
16	chr17:19700400-19705200	Strong transcription	Fetal Muscle Trunk	muscle
17	chr17:19700400-19745200	Weak transcription	Stomach Mucosa	stomach
18	chr17:19700400-19768400	Weak transcription	Fetal Heart	heart
19	chr17:19700600-19706200	Strong transcription	Fetal Intestine Large	intestine
20	chr17:19700600-19708400	Strong transcription	Primary T cells from cord blood	blood
21	chr17:19700800-19769800	Weak transcription	HSMMtube	muscle
22	chr17:19701000-19704800	Weak transcription	Brain Substantia Nigra	brain
23	chr17:19701000-19705000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr17:19701000-19705200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr17:19701000-19705200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr17:19701000-19707000	Weak transcription	A549	lung
27	chr17:19701000-19707600	Strong transcription	Fetal Brain Female	brain
28	chr17:19701000-19708600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr17:19701000-19710800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr17:19701000-19726600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr17:19701000-19726800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr17:19701000-19727000	Weak transcription	Thymus	Thymus
33	chr17:19701000-19728000	Weak transcription	HUVEC	blood vessel
34	chr17:19701000-19728200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr17:19701000-19732400	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr17:19701000-19743200	Weak transcription	Gastric	stomach
37	chr17:19701000-19743400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr17:19701000-19748600	Weak transcription	Spleen	Spleen
39	chr17:19701000-19753400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr17:19701000-19766200	Weak transcription	Primary B cells from cord blood	blood
41	chr17:19701000-19770000	Weak transcription	Colonic Mucosa	Colon
42	chr17:19701200-19706000	Weak transcription	Fetal Kidney	kidney
43	chr17:19701200-19710400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr17:19701200-19710400	Weak transcription	Pancreas	Pancrea
45	chr17:19701200-19710600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr17:19701200-19711800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr17:19701200-19758400	Weak transcription	Small Intestine	intestine
48	chr17:19701400-19726800	Weak transcription	HSMM	muscle
49	chr17:19701600-19704800	Weak transcription	Placenta	Placenta
50	chr17:19701600-19705200	Strong transcription	Liver	Liver

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