Variant report

Variant	rs12127398
Chromosome Location	chr1:210862349-210862350
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10494928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119571	0.93[CEU][hapmap];0.81[CHB][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11119575	0.92[CEU][hapmap];0.81[CHB][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12122565	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12123159	0.90[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12125545	0.85[CEU][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes]
rs12126038	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12140954	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12141923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17188416	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17188506	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2226023	0.81[CHB][hapmap]
rs2357921	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs28513183	0.84[EUR][1000 genomes]
rs4628571	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs60195529	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv873150	chr1:210808270-210893233	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv468083	chr1:210854815-210876192	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv549123	chr1:210854815-210876192	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210835400-210863200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:210838000-210880400	Weak transcription	Gastric	stomach
3	chr1:210845400-210866000	Weak transcription	Spleen	Spleen
4	chr1:210846000-210865600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:210846200-210862400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:210846200-210865800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:210846400-210884600	Weak transcription	Ovary	ovary
8	chr1:210856000-210863200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:210856200-210864200	Weak transcription	Brain Substantia Nigra	brain
10	chr1:210857000-210864800	Weak transcription	Fetal Stomach	stomach
11	chr1:210857200-210882600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:210857400-210864000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:210857800-210863200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:210857800-210870800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:210858000-210864800	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:210858000-210880400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:210859800-210862600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:210859800-210863800	Enhancers	HSMM	muscle
19	chr1:210859800-210865600	Weak transcription	GM12878-XiMat	blood
20	chr1:210860000-210863800	Enhancers	A549	lung
21	chr1:210860000-210863800	Enhancers	Osteobl	bone
22	chr1:210860400-210862800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:210860600-210863800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:210861000-210863200	Enhancers	HSMMtube	muscle
25	chr1:210861400-210863200	Weak transcription	NH-A	brain
26	chr1:210861600-210863200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:210861800-210862600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:210861800-210862800	Enhancers	Brain Anterior Caudate	brain
29	chr1:210862000-210863200	Enhancers	Brain Hippocampus Middle	brain
30	chr1:210862000-210866000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr1:210862200-210863400	Enhancers	Brain Angular Gyrus	brain

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