Variant report

Variant	rs4832275
Chromosome Location	chr2:86529312-86529313
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86528161..86530065-chr2:86667250..86669101,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115548	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10210162	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10210905	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11127025	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11675985	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11682376	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11695402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11891758	0.93[ASN][1000 genomes]
rs11892910	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12473739	0.82[CEU][hapmap]
rs13404016	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1559513	0.82[CEU][hapmap];0.83[YRI][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1863054	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1863064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1863065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1863066	0.95[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2113616	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs2161896	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2367205	0.82[CEU][hapmap];0.87[YRI][hapmap]
rs2367231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2886899	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3821016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832028	0.82[CEU][hapmap]
rs4832034	1.00[CHB][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4832254	0.82[CEU][hapmap]
rs4832258	0.82[CEU][hapmap];0.82[YRI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4832259	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4832266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57771960	0.90[ASN][1000 genomes]
rs6547666	0.82[CEU][hapmap];0.84[YRI][hapmap];0.80[EUR][1000 genomes]
rs6547672	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6715528	0.87[AFR][1000 genomes]
rs6718596	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6728519	0.83[ASN][1000 genomes]
rs6730604	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6734695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6754021	0.82[EUR][1000 genomes]
rs6756213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6758535	0.82[CEU][hapmap];0.84[YRI][hapmap];0.80[EUR][1000 genomes]
rs6760209	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7419344	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs7576102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7583021	0.82[CEU][hapmap];0.86[YRI][hapmap]
rs7606188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs889911	0.82[CEU][hapmap];0.87[YRI][hapmap];0.80[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4832275	MRPL35	cis	Esophagus Muscularis	GTEx
rs4832275	MRPL35	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86524000-86529600	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr2:86524200-86530000	Enhancers	Brain Hippocampus Middle	brain
3	chr2:86524200-86530200	Enhancers	Colon Smooth Muscle	Colon
4	chr2:86524200-86533600	Enhancers	Fetal Lung	lung
5	chr2:86524600-86533400	Enhancers	Fetal Muscle Leg	muscle
6	chr2:86524800-86530200	Enhancers	Brain Angular Gyrus	brain
7	chr2:86525000-86530200	Enhancers	HSMMtube	muscle
8	chr2:86525200-86529600	Enhancers	Brain Anterior Caudate	brain
9	chr2:86525200-86530200	Enhancers	Brain Germinal Matrix	brain
10	chr2:86525600-86529600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:86525600-86530200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:86525800-86530000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:86525800-86530200	Enhancers	Fetal Brain Female	brain
14	chr2:86525800-86540800	Weak transcription	Aorta	Aorta
15	chr2:86526200-86529600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:86526400-86529600	Enhancers	Brain Substantia Nigra	brain
17	chr2:86526400-86529800	Enhancers	Brain Cingulate Gyrus	brain
18	chr2:86526400-86530000	Enhancers	Stomach Smooth Muscle	stomach
19	chr2:86526400-86530200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr2:86526800-86529400	Weak transcription	Fetal Heart	heart
21	chr2:86527000-86529400	Enhancers	Ovary	ovary
22	chr2:86527000-86530200	Enhancers	Fetal Stomach	stomach
23	chr2:86527200-86529600	Enhancers	Left Ventricle	heart
24	chr2:86527400-86529400	Enhancers	Fetal Brain Male	brain
25	chr2:86527400-86529600	Enhancers	Right Atrium	heart
26	chr2:86527400-86530000	Enhancers	Rectal Smooth Muscle	rectum
27	chr2:86527600-86529600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr2:86528000-86529800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:86528000-86530000	Enhancers	HSMM	muscle
30	chr2:86528200-86529400	Enhancers	Lung	lung
31	chr2:86528400-86529400	Enhancers	Psoas Muscle	Psoas
32	chr2:86528600-86529800	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr2:86528600-86530000	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr2:86528800-86529400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr2:86528800-86529400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:86528800-86529400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:86528800-86529400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
38	chr2:86528800-86529600	Enhancers	Fetal Intestine Large	intestine
39	chr2:86528800-86529600	Genic enhancers	Fetal Intestine Small	intestine
40	chr2:86528800-86529600	Bivalent Enhancer	NHDF-Ad	bronchial
41	chr2:86528800-86529800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:86529000-86529400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:86529000-86529400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:86529000-86529400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:86529000-86529400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:86529000-86529400	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr2:86529000-86529400	Enhancers	Right Ventricle	heart
48	chr2:86529000-86529600	Enhancers	Colonic Mucosa	Colon
49	chr2:86529000-86529600	Enhancers	Fetal Kidney	kidney
50	chr2:86529000-86529600	Enhancers	Small Intestine	intestine

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