Variant report

Variant	rs56070302
Chromosome Location	chr2:11426734-11426735
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: 93 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10205141	0.85[EUR][1000 genomes]
rs41264191	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41264193	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55657626	1.00[AMR][1000 genomes]
rs55737637	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55750834	1.00[AMR][1000 genomes]
rs55841255	1.00[AMR][1000 genomes]
rs55932113	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56268206	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56393775	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72771303	1.00[AMR][1000 genomes]
rs72771305	1.00[AMR][1000 genomes]
rs72774840	1.00[AMR][1000 genomes]
rs72785455	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72785456	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72785460	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785462	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72785465	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785466	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785468	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785469	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785471	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785473	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785474	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785475	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785476	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785478	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785479	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785480	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785483	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785487	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72785488	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785489	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785491	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785496	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785497	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785500	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785501	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785502	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787605	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787608	0.85[EUR][1000 genomes]
rs72787609	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787611	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787619	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787623	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787626	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72787632	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787638	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787642	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787646	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787651	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787659	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787662	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787664	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787665	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72787669	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787680	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787682	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787684	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787686	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787687	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72787690	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72787693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72787695	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72787697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72787698	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72787701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72789506	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789514	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789516	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789517	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789519	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789523	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789524	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789527	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789528	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72789529	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789531	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789533	0.92[EUR][1000 genomes]
rs72789534	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789535	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789536	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789537	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789538	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789539	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789543	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789544	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789546	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72789547	1.00[AMR][1000 genomes]
rs7422435	1.00[AMR][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56070302	ROCK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 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	chr2:11423800-11426800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:11423800-11427200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:11423800-11427200	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr2:11423800-11427200	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr2:11424000-11427200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:11424000-11428200	Weak transcription	Brain Angular Gyrus	brain
25	chr2:11424400-11427200	Weak transcription	Brain Substantia Nigra	brain
26	chr2:11424400-11428400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:11424400-11429600	Weak transcription	Fetal Brain Male	brain
28	chr2:11424400-11430200	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:11424600-11426800	Strong transcription	Liver	Liver
30	chr2:11424600-11427200	Strong transcription	Primary B cells from cord blood	blood
31	chr2:11424600-11427200	Strong transcription	NHDF-Ad	bronchial
32	chr2:11424600-11427400	Weak transcription	Colonic Mucosa	Colon
33	chr2:11424600-11427800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:11424600-11428200	Weak transcription	NHEK	skin
35	chr2:11424600-11428400	Weak transcription	Brain Anterior Caudate	brain
36	chr2:11424600-11428600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:11424600-11428600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:11424600-11428600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:11424600-11428800	Weak transcription	Brain Germinal Matrix	brain
40	chr2:11424600-11431400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:11424600-11432400	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr2:11424600-11432800	Weak transcription	Brain Hippocampus Middle	brain
43	chr2:11424600-11433000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:11424600-11433000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr2:11424600-11436600	Weak transcription	Fetal Kidney	kidney
46	chr2:11424800-11426800	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr2:11424800-11427200	Strong transcription	A549	lung
48	chr2:11424800-11429800	Weak transcription	HMEC	breast
49	chr2:11424800-11432800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:11424800-11433000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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