Variant report

Variant	rs34623763
Chromosome Location	chr2:11426977-11426978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11425026..11427134-chr2:11483302..11485357,2	K562	blood:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10168084	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10169868	0.81[AMR][1000 genomes]
rs10176416	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10192483	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10495582	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10754958	0.90[AFR][1000 genomes]
rs10929725	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10929726	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11674991	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11680818	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11691429	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12465116	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12470004	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12472868	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12475086	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12475627	0.89[ASN][1000 genomes]
rs12478098	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12478870	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12987956	0.81[EUR][1000 genomes]
rs12996712	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13022598	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13023677	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13030319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13393192	0.82[AMR][1000 genomes]
rs13397757	0.82[AMR][1000 genomes]
rs13423864	0.82[AMR][1000 genomes]
rs13424069	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1515219	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1546597	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1546598	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17366643	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17366657	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17366874	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17463896	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1901010	0.90[AFR][1000 genomes]
rs2011812	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2056103	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2060634	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2122383	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2176052	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2230774	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2357997	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2358007	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34193264	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34213264	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34586031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35407012	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35432367	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35508648	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35515036	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36072395	0.82[AMR][1000 genomes]
rs3771106	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4477886	0.84[ASN][1000 genomes]
rs4595944	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs55641887	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55995833	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56256182	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57554471	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62121446	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62121447	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6707667	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711793	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6716447	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6716817	0.85[ASN][1000 genomes]
rs6728627	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6753921	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs726843	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs753771	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7557723	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7560132	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7580593	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7581130	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7589152	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7589629	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7598032	0.82[AMR][1000 genomes]
rs7600696	0.82[AMR][1000 genomes]
rs8996	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs921321	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs921322	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9677600	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs978906	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[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	nsv526038	chr2:11369078-11489531	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1827245	chr2:11385834-11442583	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs34623763	ROCK2	Cis_1M	lymphoblastoid	RTeQTL
rs34623763	PQLC3	cis	Esophagus Muscularis	GTEx
rs34623763	PQLC3	cis	Thyroid	GTEx
rs34623763	PQLC3	cis	lung	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11310600-11433000	Weak transcription	Pancreas	Pancrea
2	chr2:11378800-11428600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:11394800-11432800	Weak transcription	Right Ventricle	heart
4	chr2:11410400-11433000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:11410800-11432800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:11411200-11432800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:11413000-11427400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:11413000-11427800	Weak transcription	Aorta	Aorta
9	chr2:11413000-11431400	Weak transcription	Lung	lung
10	chr2:11415400-11428800	Strong transcription	HepG2	liver
11	chr2:11415600-11428600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:11416200-11428000	Weak transcription	Stomach Mucosa	stomach
13	chr2:11418000-11431000	Weak transcription	Psoas Muscle	Psoas
14	chr2:11418800-11428400	Weak transcription	NHLF	lung
15	chr2:11420800-11430400	Weak transcription	Small Intestine	intestine
16	chr2:11420800-11433000	Weak transcription	Spleen	Spleen
17	chr2:11422200-11427800	Weak transcription	HUVEC	blood vessel
18	chr2:11422800-11427200	Strong transcription	Fetal Intestine Large	intestine
19	chr2:11423800-11427200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:11423800-11427200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr2:11423800-11427200	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr2:11424000-11427200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:11424000-11428200	Weak transcription	Brain Angular Gyrus	brain
24	chr2:11424400-11427200	Weak transcription	Brain Substantia Nigra	brain
25	chr2:11424400-11428400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:11424400-11429600	Weak transcription	Fetal Brain Male	brain
27	chr2:11424400-11430200	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:11424600-11427200	Strong transcription	Primary B cells from cord blood	blood
29	chr2:11424600-11427200	Strong transcription	NHDF-Ad	bronchial
30	chr2:11424600-11427400	Weak transcription	Colonic Mucosa	Colon
31	chr2:11424600-11427800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:11424600-11428200	Weak transcription	NHEK	skin
33	chr2:11424600-11428400	Weak transcription	Brain Anterior Caudate	brain
34	chr2:11424600-11428600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:11424600-11428600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:11424600-11428600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:11424600-11428800	Weak transcription	Brain Germinal Matrix	brain
38	chr2:11424600-11431400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:11424600-11432400	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr2:11424600-11432800	Weak transcription	Brain Hippocampus Middle	brain
41	chr2:11424600-11433000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:11424600-11433000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:11424600-11436600	Weak transcription	Fetal Kidney	kidney
44	chr2:11424800-11427200	Strong transcription	A549	lung
45	chr2:11424800-11429800	Weak transcription	HMEC	breast
46	chr2:11424800-11432800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr2:11424800-11433000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:11424800-11455200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:11425000-11427200	Weak transcription	Fetal Brain Female	brain
50	chr2:11425000-11428400	Weak transcription	Rectal Smooth Muscle	rectum

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