Variant report

Variant	rs34887515
Chromosome Location	chr2:11513393-11513394
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11503850..11507049-chr2:11513264..11516627,3	MCF-7	breast:
2	chr2:11479515..11481764-chr2:11513114..11514767,2	MCF-7	breast:
3	chr2:11483150..11486998-chr2:11509500..11514812,6	MCF-7	breast:
4	chr2:11511258..11513746-chr2:11518723..11520473,2	MCF-7	breast:
5	chr2:11506369..11508414-chr2:11509960..11513532,3	K562	blood:

Variant related genes	Relation type
ENSG00000230952	Chromatin interaction
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12990641	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12997263	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13015560	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13017021	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13020022	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34760292	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35231136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35665018	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35750432	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71439056	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71439057	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71439058	0.84[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
rs34887515	ROCK2	Cis_1M	lymphoblastoid	RTeQTL
rs34887515	PQLC3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11505400-11514400	Enhancers	Fetal Intestine Large	intestine
2	chr2:11506000-11514600	Weak transcription	K562	blood
3	chr2:11507400-11516200	Enhancers	Stomach Mucosa	stomach
4	chr2:11508400-11513400	Weak transcription	HSMMtube	muscle
5	chr2:11508400-11514800	Weak transcription	Small Intestine	intestine
6	chr2:11508600-11513600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:11508600-11514000	Enhancers	Psoas Muscle	Psoas
8	chr2:11508800-11513400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:11508800-11513600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:11508800-11513600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:11508800-11513600	Weak transcription	Osteobl	bone
12	chr2:11508800-11514400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:11508800-11514600	Weak transcription	Brain Germinal Matrix	brain
14	chr2:11508800-11514600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:11508800-11514600	Weak transcription	Right Atrium	heart
16	chr2:11508800-11515000	Weak transcription	Aorta	Aorta
17	chr2:11509000-11513400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:11509000-11514400	Weak transcription	Brain Anterior Caudate	brain
19	chr2:11509000-11514400	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:11509000-11514400	Weak transcription	Brain Substantia Nigra	brain
21	chr2:11509200-11514400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:11509200-11514400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:11509400-11513600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:11509600-11513400	Weak transcription	Adipose Nuclei	Adipose
25	chr2:11509600-11513600	Enhancers	Gastric	stomach
26	chr2:11509600-11513800	Weak transcription	Placenta	Placenta
27	chr2:11509800-11513800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:11509800-11514400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr2:11509800-11514400	Weak transcription	Fetal Brain Male	brain
30	chr2:11510600-11513800	Enhancers	Liver	Liver
31	chr2:11510600-11514200	Enhancers	NHDF-Ad	bronchial
32	chr2:11510600-11514600	Enhancers	HMEC	breast
33	chr2:11510600-11515000	Enhancers	Fetal Muscle Trunk	muscle
34	chr2:11510800-11513600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:11510800-11514600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:11510800-11514600	Enhancers	Fetal Muscle Leg	muscle
37	chr2:11511000-11514200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:11511200-11514600	Weak transcription	Esophagus	oesophagus
39	chr2:11511200-11514600	Weak transcription	Fetal Thymus	thymus
40	chr2:11511400-11514600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr2:11511600-11513600	Enhancers	Lung	lung
42	chr2:11511800-11514400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr2:11511800-11514400	Enhancers	HepG2	liver
44	chr2:11511800-11514600	Weak transcription	Pancreas	Pancrea
45	chr2:11512000-11514400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:11512200-11514400	Weak transcription	Colonic Mucosa	Colon
47	chr2:11512200-11514400	Enhancers	Stomach Smooth Muscle	stomach
48	chr2:11512200-11518400	Enhancers	Fetal Intestine Small	intestine
49	chr2:11512400-11513400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:11512400-11513400	Weak transcription	Duodenum Mucosa	Duodenum

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