Variant report

Variant	rs10168997
Chromosome Location	chr2:86227724-86227725
allele	C/T
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: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11885520	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11895453	0.88[EUR][1000 genomes]
rs11903682	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12124	0.81[ASN][1000 genomes]
rs1469981	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1469982	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17579744	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978842	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3731822	0.81[ASN][1000 genomes]
rs57361751	0.81[ASN][1000 genomes]
rs57405155	0.81[ASN][1000 genomes]
rs58077381	0.88[EUR][1000 genomes]
rs58913632	0.81[ASN][1000 genomes]
rs6707736	0.88[EUR][1000 genomes]
rs6708805	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6741224	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72847838	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847843	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72847845	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72847853	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7569121	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7599498	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9679308	0.82[AMR][1000 genomes];0.85[EUR][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
rs10168997	MRPL35	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:72 , 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	chr2:86220400-86228800	Enhancers	Primary T cells fromperipheralblood	blood
6	chr2:86220800-86228600	Enhancers	Fetal Muscle Leg	muscle
7	chr2:86220800-86228800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr2:86220800-86228800	Enhancers	Fetal Thymus	thymus
9	chr2:86221000-86228400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr2:86221000-86228600	Enhancers	Primary hematopoietic stem cells	blood
11	chr2:86221000-86228600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:86221000-86228600	Enhancers	Spleen	Spleen
13	chr2:86221400-86228400	Enhancers	Brain Hippocampus Middle	brain
14	chr2:86221400-86228600	Enhancers	Placenta	Placenta
15	chr2:86221600-86228400	Enhancers	Right Atrium	heart
16	chr2:86222600-86228400	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr2:86222600-86228600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:86222600-86229000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr2:86222800-86228400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:86223400-86228600	Enhancers	Fetal Lung	lung
21	chr2:86223600-86228400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:86223600-86228600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:86223800-86228800	Enhancers	Primary T cells from cord blood	blood
24	chr2:86223800-86228800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr2:86224000-86228600	Enhancers	Fetal Intestine Large	intestine
26	chr2:86224400-86228200	Weak transcription	Esophagus	oesophagus
27	chr2:86225000-86229000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:86225200-86228600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:86225600-86227800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr2:86225600-86228400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:86225600-86228400	Enhancers	HUVEC	blood vessel
32	chr2:86226000-86228400	Enhancers	NH-A	brain
33	chr2:86226200-86231800	Enhancers	K562	blood
34	chr2:86226600-86228200	Enhancers	Hela-S3	cervix
35	chr2:86226600-86228200	Enhancers	NHDF-Ad	bronchial
36	chr2:86226600-86228400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:86226800-86227800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:86226800-86228000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr2:86226800-86228000	Weak transcription	HSMMtube	muscle
40	chr2:86226800-86228400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr2:86226800-86228400	Weak transcription	Brain Substantia Nigra	brain
42	chr2:86226800-86228600	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr2:86226800-86228600	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr2:86226800-86228600	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr2:86226800-86228600	Enhancers	Adipose Nuclei	Adipose
46	chr2:86226800-86228800	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr2:86226800-86228800	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr2:86226800-86231400	Weak transcription	Psoas Muscle	Psoas
49	chr2:86227000-86228000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:86227000-86228000	Weak transcription	Rectal Mucosa Donor 29	rectum

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