Variant report

Variant	rs3101810
Chromosome Location	chr17:19766991-19766992
allele	C/T
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:115)

rs_ID	r²[population]
rs115326	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs118943	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[EUR][1000 genomes]
rs123081	0.85[EUR][1000 genomes]
rs123082	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs150122	1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[EUR][1000 genomes]
rs157387	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs157392	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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];1.00[GIH][hapmap];0.97[EUR][1000 genomes]
rs157396	1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[EUR][1000 genomes]
rs157397	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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];0.96[GIH][hapmap];0.97[EUR][1000 genomes]
rs157403	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs157405	1.00[CEU][hapmap]
rs157406	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs157407	1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.95[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];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs172186	1.00[CEU][hapmap];0.96[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];1.00[GIH][hapmap];0.97[EUR][1000 genomes]
rs192511	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]
rs205090	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs205093	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[EUR][1000 genomes]
rs205094	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs205095	0.91[ASN][1000 genomes]
rs205096	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[EUR][1000 genomes]
rs205097	0.87[EUR][1000 genomes];0.92[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	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs205107	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[EUR][1000 genomes]
rs205108	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs205109	0.92[ASN][1000 genomes]
rs205110	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[EUR][1000 genomes]
rs205111	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.92[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	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs281329	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs281331	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs281332	1.00[CEU][hapmap];1.00[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];0.93[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.92[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];1.00[GIH][hapmap];0.97[EUR][1000 genomes]
rs281343	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs281344	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs281345	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs281346	1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[EUR][1000 genomes]
rs281347	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs281348	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs281349	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs281350	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs281351	1.00[CEU][hapmap];1.00[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];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs281354	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs281355	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs281356	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs281365	0.97[EUR][1000 genomes]
rs3098902	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3098905	0.97[EUR][1000 genomes]
rs3098906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3098907	0.97[EUR][1000 genomes]
rs3098908	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3098909	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3098910	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[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];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3101815	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs34372768	0.97[EUR][1000 genomes]
rs367383	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs379703	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs383948	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs383951	0.93[EUR][1000 genomes]
rs394008	0.92[ASN][1000 genomes]
rs395130	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs421561	1.00[CEU][hapmap];0.89[YRI][hapmap];0.97[EUR][1000 genomes]
rs445958	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[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];0.96[GIH][hapmap];0.84[EUR][1000 genomes]
rs7225417	0.84[EUR][1000 genomes]
rs917519	1.00[CEU][hapmap];0.93[GIH][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19673800-19769800	Weak transcription	NH-A	brain
2	chr17:19700400-19768400	Weak transcription	Fetal Heart	heart
3	chr17:19700800-19769800	Weak transcription	HSMMtube	muscle
4	chr17:19701000-19770000	Weak transcription	Colonic Mucosa	Colon
5	chr17:19703800-19769800	Weak transcription	Psoas Muscle	Psoas
6	chr17:19704400-19770000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr17:19706800-19769800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr17:19712400-19769800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr17:19725400-19768600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr17:19727400-19768800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr17:19727800-19769800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr17:19728000-19770000	Weak transcription	Esophagus	oesophagus
13	chr17:19728200-19769800	Weak transcription	HSMM	muscle
14	chr17:19728200-19770000	Weak transcription	Pancreas	Pancrea
15	chr17:19728400-19768800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr17:19728600-19769800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr17:19728800-19769400	Weak transcription	NHEK	skin
18	chr17:19737600-19769800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:19738200-19767400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr17:19741400-19768600	Weak transcription	Brain Hippocampus Middle	brain
21	chr17:19742800-19769800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr17:19744000-19769800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr17:19744200-19770200	Weak transcription	Gastric	stomach
24	chr17:19745400-19769200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr17:19747000-19769800	Weak transcription	NHDF-Ad	bronchial
26	chr17:19747200-19769400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr17:19749600-19770000	Weak transcription	Right Ventricle	heart
28	chr17:19750000-19770000	Weak transcription	Left Ventricle	heart
29	chr17:19750200-19768400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr17:19750200-19768400	Weak transcription	Fetal Brain Male	brain
31	chr17:19750200-19768600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr17:19750200-19769200	Weak transcription	Brain Substantia Nigra	brain
33	chr17:19750200-19769800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr17:19750200-19770000	Weak transcription	Aorta	Aorta
35	chr17:19750400-19768400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr17:19750400-19768600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr17:19750400-19769600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr17:19750400-19769800	Weak transcription	Liver	Liver
39	chr17:19750400-19769800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr17:19750800-19768600	Weak transcription	Colon Smooth Muscle	Colon
41	chr17:19750800-19769600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr17:19750800-19770200	Weak transcription	Spleen	Spleen
43	chr17:19751400-19769800	Weak transcription	Osteobl	bone
44	chr17:19751600-19769800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr17:19752200-19768400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr17:19752800-19769800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr17:19755600-19770000	Weak transcription	Lung	lung
48	chr17:19757000-19769800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr17:19760600-19767400	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr17:19761000-19767200	Strong transcription	Monocytes-CD14+_RO01746	blood

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