Variant report

Variant	rs6547672
Chromosome Location	chr2:86525736-86525737
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86525502..86526465-chr2:86599763..86600646,3	MCF-7	breast:
2	chr2:86519380..86521878-chr2:86524185..86527077,2	K562	blood:
3	chr2:86525581..86526450-chr2:86595097..86596076,7	MCF-7	breast:
4	chr2:86447692..86448797-chr2:86525346..86526631,6	MCF-7	breast:
5	chr2:86525475..86526402-chr2:86594830..86595950,4	MCF-7	breast:
6	chr2:86525418..86526527-chr2:86599676..86600615,4	MCF-7	breast:
7	chr2:86447857..86448893-chr2:86525541..86526483,3	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10210905	0.96[ASN][1000 genomes]
rs11127025	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11682376	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11695402	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11891758	0.93[ASN][1000 genomes]
rs11892910	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs13404016	0.90[ASN][1000 genomes]
rs1559513	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1863054	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1863064	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1863065	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1863066	0.96[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2161896	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2367205	0.81[EUR][1000 genomes]
rs2367231	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2886899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3821016	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832034	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4832258	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4832259	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4832266	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4832275	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57771960	0.90[ASN][1000 genomes]
rs6547666	0.84[EUR][1000 genomes]
rs6715528	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6718596	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6728519	0.83[ASN][1000 genomes]
rs6730604	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6734695	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6754021	0.86[EUR][1000 genomes]
rs6756213	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6758535	0.84[EUR][1000 genomes]
rs6760209	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7419344	0.86[EUR][1000 genomes]
rs7576102	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7583021	0.81[EUR][1000 genomes]
rs7606188	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs889911	0.84[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
rs6547672	MRPL35	Cis_1M	lymphoblastoid	RTeQTL
rs6547672	MRPL35	cis	Esophagus Muscularis	GTEx

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86514000-86529200	Weak transcription	Pancreas	Pancrea
2	chr2:86518400-86527600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:86521600-86528600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:86522600-86525800	Weak transcription	Fetal Brain Male	brain
5	chr2:86522600-86525800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:86522600-86529000	Weak transcription	Small Intestine	intestine
7	chr2:86523600-86525800	Weak transcription	Fetal Brain Female	brain
8	chr2:86524000-86525800	Enhancers	Aorta	Aorta
9	chr2:86524000-86526400	Enhancers	Rectal Smooth Muscle	rectum
10	chr2:86524000-86526400	Enhancers	Right Atrium	heart
11	chr2:86524000-86526800	Enhancers	Left Ventricle	heart
12	chr2:86524000-86527600	Enhancers	Psoas Muscle	Psoas
13	chr2:86524000-86527800	Enhancers	Right Ventricle	heart
14	chr2:86524000-86529600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr2:86524200-86527200	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr2:86524200-86530000	Enhancers	Brain Hippocampus Middle	brain
17	chr2:86524200-86530200	Enhancers	Colon Smooth Muscle	Colon
18	chr2:86524200-86533600	Enhancers	Fetal Lung	lung
19	chr2:86524400-86525800	Enhancers	Brain Cingulate Gyrus	brain
20	chr2:86524400-86526800	Enhancers	Fetal Heart	heart
21	chr2:86524600-86525800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:86524600-86533400	Enhancers	Fetal Muscle Leg	muscle
23	chr2:86524800-86530200	Enhancers	Brain Angular Gyrus	brain
24	chr2:86525000-86529200	Enhancers	Fetal Muscle Trunk	muscle
25	chr2:86525000-86530200	Enhancers	HSMMtube	muscle
26	chr2:86525200-86525800	Enhancers	Brain Substantia Nigra	brain
27	chr2:86525200-86529600	Enhancers	Brain Anterior Caudate	brain
28	chr2:86525200-86530200	Enhancers	Brain Germinal Matrix	brain
29	chr2:86525400-86525800	Enhancers	Placenta	Placenta
30	chr2:86525400-86525800	Bivalent Enhancer	Fetal Stomach	stomach
31	chr2:86525400-86526000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:86525400-86526200	Weak transcription	Spleen	Spleen
33	chr2:86525400-86526600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:86525600-86525800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr2:86525600-86525800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:86525600-86525800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:86525600-86525800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr2:86525600-86526000	Enhancers	Stomach Smooth Muscle	stomach
39	chr2:86525600-86526000	Bivalent Enhancer	HepG2	liver
40	chr2:86525600-86526400	Enhancers	Adipose Nuclei	Adipose
41	chr2:86525600-86526400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr2:86525600-86526400	Enhancers	Esophagus	oesophagus
43	chr2:86525600-86526400	Enhancers	Lung	lung
44	chr2:86525600-86526600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr2:86525600-86526600	Enhancers	Fetal Intestine Large	intestine
46	chr2:86525600-86526600	Enhancers	Fetal Intestine Small	intestine
47	chr2:86525600-86529600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:86525600-86530200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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