Variant report

Variant	rs56393775
Chromosome Location	chr2:11387450-11387451
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	chr2:11382499..11384208-chr2:11387400..11389311,2	K562	blood:
2	chr2:11376107..11377665-chr2:11385146..11388088,2	K562	blood:

Extended variants
information (count: 96 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10205141	0.89[EUR][1000 genomes]
rs41264191	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41264193	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55657626	1.00[AMR][1000 genomes]
rs55737637	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55750834	1.00[AMR][1000 genomes]
rs55841255	1.00[AMR][1000 genomes]
rs55932113	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56070302	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56268206	1.00[AMR][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];0.89[EUR][1000 genomes]
rs72785456	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785460	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72785462	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72785465	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72785466	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72785468	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72785469	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72785471	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72785473	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72785474	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72785475	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72785476	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72785478	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72785479	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72785480	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72785483	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72785487	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785488	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72785489	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72785491	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72785496	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72785497	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72785500	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72785501	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72785502	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72787605	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72787608	0.89[EUR][1000 genomes]
rs72787609	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72787611	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72787619	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72787623	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72787626	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72787632	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787638	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787642	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787646	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787651	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787659	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787662	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787664	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787665	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72787669	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72787680	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72787682	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72787684	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72787686	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72787687	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72787689	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787690	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787693	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787695	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787697	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787698	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72787701	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72789506	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789514	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789516	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789517	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789519	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789523	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789524	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789527	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789528	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789529	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789531	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789533	0.82[EUR][1000 genomes]
rs72789534	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789535	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789536	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789537	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789538	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789539	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789543	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789544	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789546	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789547	1.00[AMR][1000 genomes]
rs7422435	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	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
4	nsv2607	chr2:11381341-11409932	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	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
rs56393775	ROCK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11296200-11412600	Weak transcription	Aorta	Aorta
2	chr2:11297600-11394400	Weak transcription	Right Ventricle	heart
3	chr2:11310600-11433000	Weak transcription	Pancreas	Pancrea
4	chr2:11352600-11411200	Weak transcription	Thymus	Thymus
5	chr2:11352800-11424000	Weak transcription	HSMMtube	muscle
6	chr2:11354400-11388000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:11354600-11423800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:11360400-11396400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:11361000-11397000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:11361000-11397400	Weak transcription	Left Ventricle	heart
11	chr2:11361000-11399200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:11361000-11400200	Weak transcription	Gastric	stomach
13	chr2:11361000-11410800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:11361000-11411200	Weak transcription	Fetal Thymus	thymus
15	chr2:11361000-11416600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:11361200-11425600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:11361600-11396800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:11364400-11387600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:11364400-11423800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:11364800-11397400	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr2:11366000-11391000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:11366400-11396800	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:11366600-11390800	Weak transcription	NHLF	lung
24	chr2:11367600-11388200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr2:11368400-11394400	Weak transcription	Brain Angular Gyrus	brain
26	chr2:11369600-11388000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:11370400-11394200	Weak transcription	Fetal Lung	lung
28	chr2:11372600-11397200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:11372600-11423800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:11375400-11390600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:11376200-11410800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:11376800-11387600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:11376800-11394200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:11376800-11395000	Weak transcription	Fetal Heart	heart
35	chr2:11376800-11399000	Weak transcription	Brain Anterior Caudate	brain
36	chr2:11378800-11428600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:11379800-11397000	Weak transcription	GM12878-XiMat	blood
38	chr2:11380000-11396400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:11380200-11390600	Weak transcription	Small Intestine	intestine
40	chr2:11380400-11387600	Weak transcription	Osteobl	bone
41	chr2:11380400-11387800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:11380400-11390200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:11380400-11393600	Weak transcription	Hela-S3	cervix
44	chr2:11380400-11397400	Weak transcription	Right Atrium	heart
45	chr2:11380600-11390600	Weak transcription	NHEK	skin
46	chr2:11380600-11390800	Weak transcription	HUVEC	blood vessel
47	chr2:11380800-11390600	Weak transcription	HMEC	breast
48	chr2:11382800-11387800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:11382800-11389800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:11382800-11390600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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