Variant report

Variant	rs34760292
Chromosome Location	chr2:11511288-11511289
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11494304..11496059-chr2:11510335..11513048,2	MCF-7	breast:
2	chr2:11483150..11486998-chr2:11509500..11514812,6	MCF-7	breast:
3	chr2:11511258..11513746-chr2:11518723..11520473,2	MCF-7	breast:
4	chr2:11483074..11486945-chr2:11508769..11511659,4	MCF-7	breast:
5	chr2:11506369..11508414-chr2:11509960..11513532,3	K562	blood:
6	chr2:11508308..11513224-chr2:11514143..11518077,7	MCF-7	breast:
7	chr2:11509703..11512447-chr2:11679988..11681680,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ROCK2-4	chr2:11510929-11511336	NONHSAT069162

No data

Variant related genes	Relation type
ENSG00000264010	Chromatin interaction
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12990641	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12997263	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13015560	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13017021	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13020022	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34887515	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35231136	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35665018	0.94[EUR][1000 genomes]
rs35750432	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71439056	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71439057	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34760292	ROCK2	Cis_1M	lymphoblastoid	RTeQTL
rs34760292	PQLC3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11505400-11514400	Enhancers	Fetal Intestine Large	intestine
2	chr2:11505600-11511600	Enhancers	Fetal Intestine Small	intestine
3	chr2:11506000-11514600	Weak transcription	K562	blood
4	chr2:11507400-11516200	Enhancers	Stomach Mucosa	stomach
5	chr2:11508400-11513400	Weak transcription	HSMMtube	muscle
6	chr2:11508400-11514800	Weak transcription	Small Intestine	intestine
7	chr2:11508600-11513200	Weak transcription	NH-A	brain
8	chr2:11508600-11513600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:11508600-11514000	Enhancers	Psoas Muscle	Psoas
10	chr2:11508800-11513200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:11508800-11513400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:11508800-11513600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:11508800-11513600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:11508800-11513600	Weak transcription	Osteobl	bone
15	chr2:11508800-11514400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:11508800-11514600	Weak transcription	Brain Germinal Matrix	brain
17	chr2:11508800-11514600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:11508800-11514600	Weak transcription	Right Atrium	heart
19	chr2:11508800-11515000	Weak transcription	Aorta	Aorta
20	chr2:11509000-11513400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:11509000-11514400	Weak transcription	Brain Anterior Caudate	brain
22	chr2:11509000-11514400	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:11509000-11514400	Weak transcription	Brain Substantia Nigra	brain
24	chr2:11509200-11513200	Weak transcription	Left Ventricle	heart
25	chr2:11509200-11514400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:11509200-11514400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:11509400-11513600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:11509600-11512200	Enhancers	Colonic Mucosa	Colon
29	chr2:11509600-11513400	Weak transcription	Adipose Nuclei	Adipose
30	chr2:11509600-11513600	Enhancers	Gastric	stomach
31	chr2:11509600-11513800	Weak transcription	Placenta	Placenta
32	chr2:11509800-11512200	Enhancers	A549	lung
33	chr2:11509800-11512400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:11509800-11512800	Weak transcription	Spleen	Spleen
35	chr2:11509800-11513800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:11509800-11514400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr2:11509800-11514400	Weak transcription	Fetal Brain Male	brain
38	chr2:11510000-11511400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:11510600-11511600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:11510600-11511800	Enhancers	Pancreas	Pancrea
41	chr2:11510600-11512000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:11510600-11512200	Enhancers	Hela-S3	cervix
43	chr2:11510600-11512400	Enhancers	NHEK	skin
44	chr2:11510600-11512600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr2:11510600-11512600	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr2:11510600-11513800	Enhancers	Liver	Liver
47	chr2:11510600-11514200	Enhancers	NHDF-Ad	bronchial
48	chr2:11510600-11514600	Enhancers	HMEC	breast
49	chr2:11510600-11515000	Enhancers	Fetal Muscle Trunk	muscle
50	chr2:11510800-11511600	Weak transcription	Lung	lung

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