Variant report

Variant	rs9679308
Chromosome Location	chr2:86227455-86227456
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86227255..86230003-chr2:86232483..86235782,3	K562	blood:
2	chr2:86225886..86228225-chr2:86420684..86422755,2	K562	blood:
3	chr2:86220130..86224322-chr2:86225400..86228402,3	MCF-7	breast:
4	chr2:86226779..86229751-chr2:86239131..86240929,2	K562	blood:

Variant related genes	Relation type
ENSG00000132305	Chromatin interaction
ENSG00000273080	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10168997	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10187875	1.00[ASN][1000 genomes]
rs10779967	1.00[ASN][1000 genomes]
rs11127015	1.00[ASN][1000 genomes]
rs11885520	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11886175	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890563	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11891096	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11895453	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903682	0.98[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12473739	1.00[ASN][1000 genomes]
rs13353	0.91[ASN][1000 genomes]
rs13390107	0.86[AMR][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	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1469982	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17579744	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1978842	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2059353	1.00[ASN][1000 genomes]
rs2288117	1.00[ASN][1000 genomes]
rs311561	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs311570	1.00[ASN][1000 genomes]
rs311580	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs311581	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs311582	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs311583	1.00[ASN][1000 genomes]
rs311584	0.80[AFR][1000 genomes];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];1.00[ASN][1000 genomes]
rs58077381	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707736	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6708805	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6715623	1.00[ASN][1000 genomes]
rs6720431	1.00[ASN][1000 genomes]
rs6723248	1.00[ASN][1000 genomes]
rs6741224	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6749218	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6752561	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72847838	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72847843	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847845	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72847853	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7340327	1.00[ASN][1000 genomes]
rs7558040	1.00[ASN][1000 genomes]
rs7569121	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7597608	0.82[ASN][1000 genomes]
rs7599498	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[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]
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
rs9679308	MRPL35	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86219800-86228600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:86219800-86228800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr2:86219800-86229000	Enhancers	Primary B cells from peripheral blood	blood
4	chr2:86219800-86229200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:86220400-86227600	Enhancers	Fetal Muscle Trunk	muscle
6	chr2:86220400-86228800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr2:86220800-86227600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr2:86220800-86228600	Enhancers	Fetal Muscle Leg	muscle
9	chr2:86220800-86228800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr2:86220800-86228800	Enhancers	Fetal Thymus	thymus
11	chr2:86221000-86228400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr2:86221000-86228600	Enhancers	Primary hematopoietic stem cells	blood
13	chr2:86221000-86228600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:86221000-86228600	Enhancers	Spleen	Spleen
15	chr2:86221400-86227600	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:86221400-86228400	Enhancers	Brain Hippocampus Middle	brain
17	chr2:86221400-86228600	Enhancers	Placenta	Placenta
18	chr2:86221600-86228400	Enhancers	Right Atrium	heart
19	chr2:86222600-86228400	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr2:86222600-86228600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:86222600-86229000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr2:86222800-86228400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:86223400-86227600	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr2:86223400-86228600	Enhancers	Fetal Lung	lung
25	chr2:86223600-86228400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:86223600-86228600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:86223800-86228800	Enhancers	Primary T cells from cord blood	blood
28	chr2:86223800-86228800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr2:86224000-86228600	Enhancers	Fetal Intestine Large	intestine
30	chr2:86224400-86228200	Weak transcription	Esophagus	oesophagus
31	chr2:86225000-86229000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:86225200-86228600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:86225600-86227800	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr2:86225600-86228400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:86225600-86228400	Enhancers	HUVEC	blood vessel
36	chr2:86226000-86228400	Enhancers	NH-A	brain
37	chr2:86226200-86227600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:86226200-86231800	Enhancers	K562	blood
39	chr2:86226600-86228200	Enhancers	Hela-S3	cervix
40	chr2:86226600-86228200	Enhancers	NHDF-Ad	bronchial
41	chr2:86226600-86228400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:86226800-86227600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:86226800-86227600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:86226800-86227800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:86226800-86228000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr2:86226800-86228000	Weak transcription	HSMMtube	muscle
47	chr2:86226800-86228400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr2:86226800-86228400	Weak transcription	Brain Substantia Nigra	brain
49	chr2:86226800-86228600	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr2:86226800-86228600	Enhancers	Primary T helper cells fromperipheralblood	blood

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