Variant report

Variant	rs726843
Chromosome Location	chr2:11356190-11356191
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11315684..11318531-chr2:11354814..11356618,2	K562	blood:
2	chr2:11352244..11354287-chr2:11354655..11356392,2	K562	blood:
3	chr2:11297321..11299192-chr2:11354600..11357317,2	MCF-7	breast:

Extended variants
information (count: 101 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10168084	0.96[CEU][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10169868	0.88[AMR][1000 genomes]
rs10176416	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10187981	0.87[CHB][hapmap]
rs10192483	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10198045	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs10495582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10754958	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10929725	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10929726	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10929727	0.88[CHB][hapmap]
rs10929728	0.87[CHB][hapmap]
rs11674991	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11680818	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11691429	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11891012	0.84[CHB][hapmap]
rs12465116	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12470004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12472868	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12475086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12475627	0.89[ASN][1000 genomes]
rs12478098	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12478870	0.80[EUR][1000 genomes]
rs12622447	0.87[CHB][hapmap]
rs12987956	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[EUR][1000 genomes]
rs12996399	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs12996712	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13018466	0.81[CEU][hapmap]
rs13022598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13030319	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13393192	0.82[CEU][hapmap];0.88[CHB][hapmap];0.89[AMR][1000 genomes]
rs13397757	0.82[CEU][hapmap];0.89[AMR][1000 genomes]
rs13404430	0.87[CHB][hapmap];0.85[AMR][1000 genomes]
rs13423864	0.88[CHB][hapmap];0.89[AMR][1000 genomes]
rs13424069	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1515219	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1546597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1546598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17366643	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17366657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17366874	0.96[CEU][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17463896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1868585	0.87[CHB][hapmap]
rs1901010	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2011812	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2056103	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2122383	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs2176052	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2230774	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2290156	0.87[CHB][hapmap]
rs2357997	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2358007	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3206843	0.84[AMR][1000 genomes]
rs34213264	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34586031	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34623763	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34727260	0.83[EUR][1000 genomes]
rs35407012	0.85[EUR][1000 genomes]
rs35432367	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35508648	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35515036	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35563401	0.87[EUR][1000 genomes]
rs35898907	0.81[EUR][1000 genomes]
rs36072395	0.89[AMR][1000 genomes]
rs3771106	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4477886	0.96[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4595944	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4669700	0.83[CHB][hapmap]
rs4669702	0.88[CHB][hapmap]
rs4669708	0.87[CHB][hapmap]
rs55641887	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55995833	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56243142	0.86[AMR][1000 genomes]
rs56256182	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57554471	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58263533	0.85[AMR][1000 genomes]
rs62120156	0.88[EUR][1000 genomes]
rs62121446	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62121447	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6707667	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6711793	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6716447	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6716817	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6728627	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6736194	0.83[CHB][hapmap]
rs6739310	0.84[CHB][hapmap]
rs6743710	0.83[CHB][hapmap]
rs6753921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7560132	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7580593	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7581130	0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7589152	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7589629	0.93[CEU][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7598032	0.82[CEU][hapmap];0.87[CHB][hapmap];0.89[AMR][1000 genomes]
rs7600696	0.89[AMR][1000 genomes]
rs8996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs921321	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs921322	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs978906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395022	chr2:11316915-11426380	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1013570	chr2:11321519-11405246	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs726843	ROCK2	Cis_1M	lymphoblastoid	RTeQTL
rs726843	PQLC3	cis	Esophagus Muscularis	GTEx
rs726843	PQLC3	cis	Thyroid	GTEx
rs726843	PQLC3	cis	lung	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11296200-11412600	Weak transcription	Aorta	Aorta
2	chr2:11296800-11379800	Weak transcription	Small Intestine	intestine
3	chr2:11297600-11394400	Weak transcription	Right Ventricle	heart
4	chr2:11299200-11357000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:11310600-11433000	Weak transcription	Pancreas	Pancrea
6	chr2:11314600-11364200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:11315800-11367400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:11318600-11359200	Weak transcription	Fetal Heart	heart
9	chr2:11319000-11364200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:11320800-11377000	Strong transcription	HepG2	liver
11	chr2:11326000-11356600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:11328800-11367600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:11329200-11364400	Strong transcription	Liver	Liver
14	chr2:11329200-11369200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:11332400-11357600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:11333400-11386200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:11334400-11363600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:11337000-11367400	Weak transcription	Brain Angular Gyrus	brain
19	chr2:11337600-11356400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:11337600-11362600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr2:11338400-11367400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:11338600-11373400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr2:11339800-11356200	Weak transcription	Stomach Mucosa	stomach
24	chr2:11339800-11359400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:11339800-11360000	Weak transcription	Spleen	Spleen
26	chr2:11339800-11382600	Weak transcription	Esophagus	oesophagus
27	chr2:11340600-11369400	Weak transcription	Colonic Mucosa	Colon
28	chr2:11340800-11361200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:11341400-11358400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr2:11341600-11384400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:11342400-11356200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:11344400-11368400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:11345000-11361600	Strong transcription	Fetal Intestine Large	intestine
34	chr2:11345200-11364400	Strong transcription	Adipose Nuclei	Adipose
35	chr2:11345400-11359600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:11346400-11364400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:11346400-11364400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:11346600-11358200	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr2:11346600-11358800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr2:11346600-11361400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:11346800-11356400	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:11346800-11362000	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:11346800-11362800	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:11346800-11364600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr2:11346800-11366400	Strong transcription	HSMM	muscle
46	chr2:11347200-11361600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:11349000-11357000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:11349000-11358200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:11349000-11361600	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr2:11349000-11362000	Strong transcription	Rectal Mucosa Donor 29	rectum

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