Variant report

Variant	rs2152831
Chromosome Location	chr1:169984446-169984447
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	chr1:169979813..169982502-chr1:169983250..169984893,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10127867	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12023275	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12563479	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12724797	0.88[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12739975	0.81[CEU][hapmap]
rs1330372	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1361088	0.96[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16862933	0.91[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1765696	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2050651	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2273458	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2420514	0.80[CHB][hapmap]
rs2750014	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs2806386	0.92[CHB][hapmap];0.91[JPT][hapmap]
rs33943686	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4141917	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4656203	0.83[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs543894	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs574211	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6673712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6697581	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7418815	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7517490	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs824668	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9426889	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[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	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2152831	C1orf112	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169904000-170010400	Weak transcription	Aorta	Aorta
2	chr1:169914800-169984800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:169914800-169988800	Weak transcription	Fetal Intestine Small	intestine
4	chr1:169922400-169996400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:169944800-169989600	Weak transcription	Thymus	Thymus
6	chr1:169951600-170011800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:169951800-169984800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr1:169952000-169984600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:169952000-169985200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:169952000-170018000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:169952400-169984600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:169952400-170043000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:169952600-169984800	Weak transcription	Fetal Intestine Large	intestine
14	chr1:169955000-169984800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:169955600-169984800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:169956800-169997400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:169966600-169984600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr1:169966800-169984600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:169966800-169984800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:169967600-170013000	Weak transcription	Fetal Heart	heart
21	chr1:169968600-169984600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:169968800-169999400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:169968800-170010800	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:169968800-170020200	Weak transcription	Brain Angular Gyrus	brain
25	chr1:169969000-169984600	Weak transcription	Brain Anterior Caudate	brain
26	chr1:169969000-169984800	Weak transcription	Ovary	ovary
27	chr1:169969000-169997400	Weak transcription	Fetal Stomach	stomach
28	chr1:169969000-170012600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:169969200-169988800	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:169969600-170017800	Weak transcription	Esophagus	oesophagus
31	chr1:169971400-169996400	Weak transcription	NHDF-Ad	bronchial
32	chr1:169974200-169984600	Weak transcription	Liver	Liver
33	chr1:169975800-169984600	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr1:169976400-169984600	Weak transcription	GM12878-XiMat	blood
35	chr1:169976600-169989600	Weak transcription	Brain Germinal Matrix	brain
36	chr1:169979400-169995800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:169979400-170018000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr1:169979600-169987800	Weak transcription	HSMM	muscle
39	chr1:169979800-170015200	Weak transcription	HMEC	breast
40	chr1:169980000-170006600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:169980200-169989400	Weak transcription	Fetal Kidney	kidney
42	chr1:169980400-169989200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:169980600-169997400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:169980800-169984800	Weak transcription	Fetal Thymus	thymus
45	chr1:169981400-169986200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:169981600-170013400	Weak transcription	Lung	lung
47	chr1:169982000-169986200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:169982000-169987000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:169982200-169986200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:169982200-169986200	Strong transcription	Primary T cells from cord blood	blood

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