Variant report

Variant	rs11886175
Chromosome Location	chr2:86219149-86219150
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86217426..86219773-chr2:86221522..86225425,4	K562	blood:
2	chr2:86218233..86221715-chr2:86223462..86225425,3	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10187875	1.00[ASN][1000 genomes]
rs10779967	1.00[ASN][1000 genomes]
rs11127015	1.00[ASN][1000 genomes]
rs11885520	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11890563	1.00[ASN][1000 genomes]
rs11891096	1.00[ASN][1000 genomes]
rs11895453	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903682	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12473739	1.00[ASN][1000 genomes]
rs13390107	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13420958	1.00[ASN][1000 genomes]
rs13431245	0.92[ASN][1000 genomes]
rs1424516	1.00[ASN][1000 genomes]
rs1469981	0.96[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1469982	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17579744	0.96[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2059353	1.00[ASN][1000 genomes]
rs2288117	1.00[ASN][1000 genomes]
rs311561	1.00[ASN][1000 genomes]
rs311570	1.00[ASN][1000 genomes]
rs311580	1.00[ASN][1000 genomes]
rs311581	1.00[ASN][1000 genomes]
rs311582	1.00[ASN][1000 genomes]
rs311583	1.00[ASN][1000 genomes]
rs311584	1.00[ASN][1000 genomes]
rs34892520	0.92[ASN][1000 genomes]
rs3770073	0.84[ASN][1000 genomes]
rs3810828	1.00[ASN][1000 genomes]
rs4832027	1.00[ASN][1000 genomes]
rs4832239	1.00[ASN][1000 genomes]
rs4832254	1.00[ASN][1000 genomes]
rs57339071	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58077381	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707736	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6708805	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6715623	1.00[ASN][1000 genomes]
rs6720431	1.00[ASN][1000 genomes]
rs6723248	1.00[ASN][1000 genomes]
rs6741224	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6749218	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6752561	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847838	0.96[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72847843	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847845	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72847853	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7340327	1.00[ASN][1000 genomes]
rs7558040	1.00[ASN][1000 genomes]
rs7569121	0.96[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7597608	0.82[ASN][1000 genomes]
rs7599498	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs918856	1.00[ASN][1000 genomes]
rs929916	1.00[ASN][1000 genomes]
rs9677675	1.00[ASN][1000 genomes]
rs9679308	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs979940	1.00[ASN][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11886175	MRPL35	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:44 , 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	chr2:86214600-86221200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:86215600-86221000	Weak transcription	HSMM	muscle
6	chr2:86215800-86219800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:86215800-86221000	Weak transcription	Right Ventricle	heart
8	chr2:86215800-86221000	Weak transcription	Spleen	Spleen
9	chr2:86216000-86221000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:86216000-86221000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:86216000-86221000	Weak transcription	Thymus	Thymus
12	chr2:86216000-86221200	Weak transcription	NHDF-Ad	bronchial
13	chr2:86216000-86222600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:86216000-86223400	Weak transcription	Fetal Lung	lung
15	chr2:86216200-86219800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:86216200-86220800	Weak transcription	Fetal Thymus	thymus
17	chr2:86216200-86221000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:86216200-86221000	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:86216200-86221000	Weak transcription	Ovary	ovary
20	chr2:86216200-86221000	Weak transcription	Stomach Mucosa	stomach
21	chr2:86216200-86221200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:86216200-86222800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:86216200-86225800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:86216400-86219800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:86216400-86219800	Weak transcription	Adipose Nuclei	Adipose
26	chr2:86216400-86220800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:86216400-86221000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:86216400-86221000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:86216400-86223200	Weak transcription	Pancreas	Pancrea
30	chr2:86216400-86223400	Weak transcription	Fetal Stomach	stomach
31	chr2:86216600-86221200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:86216800-86219800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr2:86217200-86220800	Weak transcription	Placenta	Placenta
34	chr2:86217400-86220400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr2:86217400-86221000	Weak transcription	Fetal Heart	heart
36	chr2:86217600-86221200	Weak transcription	A549	lung
37	chr2:86217600-86221200	Weak transcription	Hela-S3	cervix
38	chr2:86218000-86221000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:86218400-86219800	Weak transcription	K562	blood
40	chr2:86218400-86220800	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:86218400-86221000	Weak transcription	Psoas Muscle	Psoas
42	chr2:86218400-86221200	Weak transcription	Gastric	stomach
43	chr2:86218400-86223000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:86218800-86219800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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