Variant report

Variant	rs2703786
Chromosome Location	chr17:20156369-20156370
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10491107	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11204300	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11204423	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11653630	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11653869	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11654942	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11657161	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11658116	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11868116	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11869258	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12453013	0.86[EUR][1000 genomes]
rs12603372	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12936443	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12938355	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12942568	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12942627	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12949481	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12950564	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1373146	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16960697	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1859407	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1974745	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1992561	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2013443	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2042046	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2107565	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2158472	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2189709	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2526459	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2526463	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2526465	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526466	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2526476	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2526477	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2526478	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2526481	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2526482	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2526486	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2703770	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2703771	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2703776	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2703777	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2703781	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2703788	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703795	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2703800	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2703803	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2703805	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2703807	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2703812	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2703814	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2703819	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3850779	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3850780	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4925086	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4925087	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4925090	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4925091	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55705283	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57837691	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62066865	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62066870	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6587060	0.88[ASN][1000 genomes]
rs6587219	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67217337	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7212500	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7212571	0.89[EUR][1000 genomes]
rs7216599	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7216794	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7219615	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7219908	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7222984	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7222987	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7223476	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73309111	0.85[ASN][1000 genomes]
rs733794	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757494	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757495	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8066143	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8071274	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8078716	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8080649	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9893832	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9898080	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9901336	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9901796	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9902032	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9907516	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1067100	chr17:20007480-20464520	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv543260	chr17:20007480-20464520	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv482830	chr17:20012748-20169153	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv428669	chr17:20071969-20245033	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1064854	chr17:20086562-20225751	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv2761953	chr17:20086562-20225763	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1063833	chr17:20088333-20206601	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv574581	chr17:20088492-20699545	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
13	nsv1065363	chr17:20118499-20162888	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv1059774	chr17:20118499-20163560	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv1062124	chr17:20139384-20206601	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv543261	chr17:20139384-20206601	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv1065758	chr17:20141912-20464366	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
18	nsv543262	chr17:20141912-20464366	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2703786	KRT16P3	cis	Esophagus Mucosa	GTEx
rs2703786	SPECC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20111600-20166000	Weak transcription	Right Ventricle	heart
2	chr17:20128800-20157000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr17:20129200-20161600	Weak transcription	Fetal Brain Female	brain
4	chr17:20129600-20161600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr17:20130600-20161200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr17:20130600-20170000	Weak transcription	K562	blood
7	chr17:20130600-20170200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr17:20131800-20164400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr17:20136200-20157200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr17:20136200-20161600	Weak transcription	Lung	lung
11	chr17:20136400-20160800	Weak transcription	Fetal Stomach	stomach
12	chr17:20136400-20161200	Weak transcription	Fetal Lung	lung
13	chr17:20136400-20209800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr17:20138200-20157400	Weak transcription	Gastric	stomach
15	chr17:20138400-20165200	Weak transcription	Primary B cells from cord blood	blood
16	chr17:20140400-20160800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr17:20148200-20157400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr17:20148200-20165000	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr17:20148200-20165600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr17:20148400-20161200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr17:20148400-20161600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr17:20148400-20161600	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr17:20148600-20157800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr17:20148600-20160400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr17:20148600-20161400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr17:20148800-20157600	Strong transcription	Hela-S3	cervix
27	chr17:20149200-20157400	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr17:20150000-20160800	Weak transcription	HSMMtube	muscle
29	chr17:20150400-20161400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr17:20150400-20170200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr17:20150600-20157400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr17:20150800-20165600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr17:20151000-20156800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr17:20151200-20164000	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr17:20151400-20156800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr17:20151600-20157400	Weak transcription	Esophagus	oesophagus
37	chr17:20151600-20160800	Weak transcription	Spleen	Spleen
38	chr17:20151600-20161000	Weak transcription	Left Ventricle	heart
39	chr17:20151600-20164400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr17:20151600-20170800	Weak transcription	GM12878-XiMat	blood
41	chr17:20151600-20190000	Weak transcription	Colonic Mucosa	Colon
42	chr17:20151800-20156800	Weak transcription	Brain Substantia Nigra	brain
43	chr17:20151800-20157400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr17:20151800-20157600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr17:20151800-20158400	Weak transcription	Aorta	Aorta
46	chr17:20151800-20161000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr17:20151800-20161200	Weak transcription	Pancreas	Pancrea
48	chr17:20151800-20165800	Weak transcription	HMEC	breast
49	chr17:20151800-20167000	Weak transcription	NH-A	brain
50	chr17:20152000-20157600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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