Variant report

Variant	rs12617962
Chromosome Location	chr2:86513102-86513103
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	chr2:86506417..86507945-chr2:86511790..86513500,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10174095	1.00[GIH][hapmap]
rs12622691	1.00[EUR][1000 genomes]
rs12622715	0.83[EUR][1000 genomes]
rs12623755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12623761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2241435	1.00[GIH][hapmap]
rs2241437	1.00[GIH][hapmap]
rs2303339	1.00[GIH][hapmap]
rs2303340	1.00[GIH][hapmap]
rs34339158	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3731819	1.00[GIH][hapmap]
rs57367442	1.00[EUR][1000 genomes]
rs60785155	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60838463	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12617962	MTTP	trans	brain	seeQTL
rs12617962	C2orf23	cis	multi-tissue	Pritchard
rs12617962	MBLAC1	trans	brain	seeQTL
rs12617962	LIN9	trans	brain	seeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86500000-86517400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:86502800-86513600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:86506800-86513200	Enhancers	Colon Smooth Muscle	Colon
4	chr2:86508000-86520200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:86508200-86519800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:86508400-86517600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:86508600-86518400	Weak transcription	Fetal Brain Male	brain
8	chr2:86509600-86514000	Enhancers	Right Ventricle	heart
9	chr2:86510400-86513400	Enhancers	Fetal Muscle Trunk	muscle
10	chr2:86510400-86514400	Enhancers	Fetal Muscle Leg	muscle
11	chr2:86510600-86514000	Enhancers	Pancreas	Pancrea
12	chr2:86511000-86518000	Weak transcription	Fetal Kidney	kidney
13	chr2:86511200-86513200	Enhancers	HSMMtube	muscle
14	chr2:86511200-86524000	Weak transcription	Aorta	Aorta
15	chr2:86511800-86513200	Weak transcription	Lung	lung
16	chr2:86511800-86517600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:86512000-86513200	Weak transcription	Placenta	Placenta
18	chr2:86512000-86513200	Weak transcription	Gastric	stomach
19	chr2:86512000-86518200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:86512000-86521800	Weak transcription	Fetal Intestine Small	intestine
21	chr2:86512200-86513200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:86512200-86513200	Weak transcription	Psoas Muscle	Psoas
23	chr2:86512200-86514000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:86512400-86518000	Weak transcription	Brain Germinal Matrix	brain
25	chr2:86512400-86519600	Weak transcription	Fetal Brain Female	brain
26	chr2:86512400-86524000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:86512600-86513400	Enhancers	Brain Anterior Caudate	brain
28	chr2:86512600-86513600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:86512800-86513600	Enhancers	Left Ventricle	heart
30	chr2:86512800-86513800	Flanking Active TSS	Fetal Heart	heart
31	chr2:86513000-86513400	Flanking Active TSS	Fetal Lung	lung
32	chr2:86513000-86513400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:86513000-86513400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:86513000-86513600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:86513000-86513600	Enhancers	Right Atrium	heart

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