Variant report

Variant	rs4480982
Chromosome Location	chr2:86215059-86215060
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	chr2:86208939..86211667-chr2:86213596..86215398,2	K562	blood:
2	chr2:86213970..86216598-chr2:86224690..86226191,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10173155	0.96[CEU][hapmap];0.84[MEX][hapmap]
rs10181916	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10186005	0.80[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10189191	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10198260	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1020095	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11890514	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11891625	0.81[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12470643	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12472588	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12476390	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12714162	0.82[ASN][1000 genomes]
rs12714163	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12714164	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12714165	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13000793	0.81[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.87[GIH][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13024123	0.84[JPT][hapmap]
rs1438153	0.86[ASN][1000 genomes]
rs1438155	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1561330	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1866242	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1866245	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2083168	0.81[AMR][1000 genomes]
rs2099616	0.81[AMR][1000 genomes]
rs2099617	0.83[AMR][1000 genomes]
rs2278536	0.85[JPT][hapmap]
rs3937593	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4346389	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4514874	0.81[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];0.84[MEX][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4832018	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4832020	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4832232	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4832233	0.96[CEU][hapmap];0.84[MEX][hapmap]
rs6547651	0.81[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6547653	0.81[AMR][1000 genomes]
rs6547654	0.81[AMR][1000 genomes]
rs6706720	0.90[ASN][1000 genomes]
rs6708525	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6735014	0.85[JPT][hapmap]
rs6737454	0.81[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6740044	0.85[JPT][hapmap]
rs7572386	0.85[JPT][hapmap]
rs7586985	0.81[AMR][1000 genomes]
rs7595420	0.81[AMR][1000 genomes]
rs7597264	0.87[ASN][1000 genomes]
rs7599326	0.80[AMR][1000 genomes]
rs7606897	0.83[AMR][1000 genomes]
rs7607138	0.81[AMR][1000 genomes]
rs893442	0.81[AMR][1000 genomes]
rs934829	0.81[AMR][1000 genomes]
rs934830	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs934831	0.81[AMR][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	nsv1001104	chr2:86182021-86271923	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv535807	chr2:86182021-86271923	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs4480982	MRPL35	cis	parietal	SCAN
rs4480982	IMMT	Cis_1M	lymphoblastoid	RTeQTL
rs4480982	IMMT	cis	cerebellum	SCAN
rs4480982	MRPL35	cis	cerebellum	SCAN
rs4480982	ST3GAL5	cis	cerebellum	SCAN
rs4480982	IMMT	cis	lymphoblastoid	seeQTL
rs4480982	REEP1	cis	parietal	SCAN
rs4480982	C2orf51	cis	cerebellum	SCAN
rs4480982	MRPL35	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86204000-86221000	Weak transcription	Right Atrium	heart
2	chr2:86207000-86223400	Weak transcription	Liver	Liver
3	chr2:86207600-86219800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:86209000-86215600	Weak transcription	Spleen	Spleen
5	chr2:86211800-86215800	Weak transcription	Thymus	Thymus
6	chr2:86213800-86217400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:86214200-86216800	Enhancers	Fetal Muscle Trunk	muscle
8	chr2:86214400-86216200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:86214400-86216200	Enhancers	Colon Smooth Muscle	Colon
10	chr2:86214400-86216400	Enhancers	Adipose Nuclei	Adipose
11	chr2:86214400-86216400	Enhancers	Fetal Stomach	stomach
12	chr2:86214400-86217800	Enhancers	Fetal Muscle Leg	muscle
13	chr2:86214600-86216000	Enhancers	NHDF-Ad	bronchial
14	chr2:86214600-86216200	Enhancers	Rectal Smooth Muscle	rectum
15	chr2:86214600-86216400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:86214600-86216400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr2:86214600-86218400	Enhancers	K562	blood
18	chr2:86214600-86221200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:86214800-86215200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr2:86214800-86216000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:86214800-86216000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:86214800-86216200	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr2:86214800-86217200	Enhancers	Placenta	Placenta
24	chr2:86215000-86215200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:86215000-86215600	Weak transcription	Right Ventricle	heart
26	chr2:86215000-86216000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr2:86215000-86216000	Enhancers	Hela-S3	cervix
28	chr2:86215000-86216200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:86215000-86216400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:86215000-86216600	Enhancers	Stomach Smooth Muscle	stomach

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