Variant report

Variant	rs445958
Chromosome Location	chr17:19698692-19698693
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs115326	0.81[EUR][1000 genomes]
rs118943	0.81[EUR][1000 genomes]
rs123081	0.82[EUR][1000 genomes]
rs123082	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs150122	0.94[EUR][1000 genomes]
rs157387	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs157388	0.94[EUR][1000 genomes]
rs157389	0.94[EUR][1000 genomes]
rs157390	0.94[EUR][1000 genomes]
rs157391	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs157392	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs157394	0.91[EUR][1000 genomes]
rs157395	0.94[EUR][1000 genomes]
rs157396	0.94[EUR][1000 genomes]
rs157397	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs157399	0.88[EUR][1000 genomes]
rs157400	0.94[EUR][1000 genomes]
rs157401	0.94[EUR][1000 genomes]
rs157402	0.94[EUR][1000 genomes]
rs157403	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs157406	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs157407	0.99[ASN][1000 genomes]
rs157408	0.94[EUR][1000 genomes]
rs157409	0.94[EUR][1000 genomes]
rs166838	0.97[EUR][1000 genomes]
rs166839	0.94[EUR][1000 genomes]
rs169460	0.85[EUR][1000 genomes]
rs169512	0.91[EUR][1000 genomes]
rs169513	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs172186	0.91[EUR][1000 genomes]
rs176098	0.94[EUR][1000 genomes]
rs182214	0.94[EUR][1000 genomes]
rs184006	0.94[EUR][1000 genomes]
rs188138	0.94[EUR][1000 genomes]
rs192511	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs205090	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs205093	0.81[EUR][1000 genomes]
rs205094	0.81[EUR][1000 genomes]
rs205095	0.97[ASN][1000 genomes]
rs205096	0.81[EUR][1000 genomes]
rs205097	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs205098	0.81[EUR][1000 genomes]
rs205099	0.81[EUR][1000 genomes]
rs205100	0.81[EUR][1000 genomes]
rs205103	0.94[EUR][1000 genomes]
rs205104	0.94[EUR][1000 genomes]
rs205105	0.94[EUR][1000 genomes]
rs205106	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs205107	0.81[EUR][1000 genomes]
rs205108	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs205109	0.99[ASN][1000 genomes]
rs205110	0.81[EUR][1000 genomes]
rs205111	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs205112	0.81[EUR][1000 genomes]
rs205113	0.81[EUR][1000 genomes]
rs2385963	0.94[EUR][1000 genomes]
rs281325	0.88[EUR][1000 genomes]
rs281326	0.94[EUR][1000 genomes]
rs281327	0.94[EUR][1000 genomes]
rs281328	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs281329	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs281331	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs281332	0.91[EUR][1000 genomes]
rs281333	0.94[EUR][1000 genomes]
rs281334	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs281336	0.91[EUR][1000 genomes]
rs281337	0.94[EUR][1000 genomes]
rs281338	0.91[EUR][1000 genomes]
rs281339	0.88[EUR][1000 genomes]
rs281341	0.94[EUR][1000 genomes]
rs281342	0.94[EUR][1000 genomes]
rs281343	0.94[EUR][1000 genomes]
rs281344	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs281345	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs281346	0.94[EUR][1000 genomes]
rs281347	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs281348	0.94[EUR][1000 genomes]
rs281349	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs281350	0.94[EUR][1000 genomes]
rs281351	0.94[EUR][1000 genomes]
rs281352	0.87[EUR][1000 genomes]
rs281353	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs281354	0.94[EUR][1000 genomes]
rs281355	0.94[EUR][1000 genomes]
rs281356	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs281365	0.94[EUR][1000 genomes]
rs3098902	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3098905	0.94[EUR][1000 genomes]
rs3098906	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3098907	0.94[EUR][1000 genomes]
rs3098908	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3098909	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3098910	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3101810	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3101811	0.94[EUR][1000 genomes]
rs3101812	0.94[EUR][1000 genomes]
rs3101813	0.94[EUR][1000 genomes]
rs3101814	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3101815	0.94[EUR][1000 genomes]
rs34372768	0.94[EUR][1000 genomes]
rs367383	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs379703	0.94[EUR][1000 genomes]
rs383948	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs383951	0.91[EUR][1000 genomes]
rs394008	0.85[ASN][1000 genomes]
rs395130	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs421561	0.94[EUR][1000 genomes]
rs4586510	0.94[EUR][1000 genomes]
rs4924800	0.94[EUR][1000 genomes]
rs4925047	0.81[EUR][1000 genomes]
rs6587203	0.81[EUR][1000 genomes]
rs7225417	0.81[EUR][1000 genomes]
rs8068565	0.92[AFR][1000 genomes]
rs917519	0.81[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:111 , 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	chr17:19674000-19699200	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr17:19674000-19699200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr17:19676800-19699400	Weak transcription	Thymus	Thymus
6	chr17:19677800-19700000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr17:19678200-19698800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr17:19678200-19712000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr17:19678800-19698800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr17:19678800-19699200	Weak transcription	Colonic Mucosa	Colon
11	chr17:19679200-19699400	Strong transcription	Fetal Stomach	stomach
12	chr17:19679600-19700000	Weak transcription	HMEC	breast
13	chr17:19679600-19701000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr17:19680000-19726800	Weak transcription	NHLF	lung
15	chr17:19680600-19698800	Weak transcription	HUVEC	blood vessel
16	chr17:19682200-19699400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr17:19682400-19699400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:19689000-19698800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr17:19690200-19698800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr17:19690200-19709000	Strong transcription	Adipose Nuclei	Adipose
21	chr17:19690600-19699200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr17:19690800-19699800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr17:19690800-19707600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr17:19691000-19699800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr17:19691000-19705200	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr17:19691200-19699200	Weak transcription	Stomach Mucosa	stomach
27	chr17:19691600-19699400	Weak transcription	Spleen	Spleen
28	chr17:19691800-19702000	Strong transcription	Brain Hippocampus Middle	brain
29	chr17:19692600-19698800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr17:19692600-19698800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr17:19692600-19699400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:19692600-19699400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:19692600-19699400	Weak transcription	Esophagus	oesophagus
34	chr17:19692600-19699400	Weak transcription	HSMMtube	muscle
35	chr17:19692800-19698800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr17:19692800-19699400	Weak transcription	Colon Smooth Muscle	Colon
37	chr17:19692800-19699400	Weak transcription	Gastric	stomach
38	chr17:19692800-19699400	Weak transcription	Pancreas	Pancrea
39	chr17:19693000-19699400	Weak transcription	NHEK	skin
40	chr17:19693000-19702000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr17:19693800-19698800	Strong transcription	Fetal Kidney	kidney
42	chr17:19693800-19699200	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr17:19694200-19698800	Strong transcription	Liver	Liver
44	chr17:19694400-19699400	Strong transcription	Left Ventricle	heart
45	chr17:19694600-19699000	Strong transcription	Fetal Intestine Large	intestine
46	chr17:19694600-19701000	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr17:19695200-19699200	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr17:19695400-19700000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr17:19695400-19702000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr17:19695600-19701200	Strong transcription	Muscle Satellite Cultured Cells	--

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