Variant report

Variant	rs1343147
Chromosome Location	chr1:210973849-210973850
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210972897..210975038-chr1:210985230..210987192,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10863854	0.80[JPT][hapmap]
rs1114880	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12022273	0.96[CEU][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12022312	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1317255	0.81[JPT][hapmap]
rs1340127	0.85[JPT][hapmap]
rs1340128	0.96[CEU][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1770214	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1770215	0.92[CEU][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1770218	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1770220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1770221	0.80[JPT][hapmap]
rs1777244	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1777247	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1777252	1.00[CEU][hapmap];0.85[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1777254	1.00[CEU][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1777255	1.00[CEU][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1777256	1.00[CEU][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1777257	0.90[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes]
rs1777259	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1777263	0.91[CEU][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1891661	0.84[EUR][1000 genomes]
rs1934632	0.80[JPT][hapmap]
rs1934633	0.85[JPT][hapmap]
rs2798145	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2798147	0.90[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs4282878	0.85[JPT][hapmap]
rs4951640	0.80[JPT][hapmap]
rs9429845	0.80[JPT][hapmap]

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	nsv873153	chr1:210900481-210994339	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv999018	chr1:210907239-210999306	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv832503	chr1:210948760-211103163	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210941800-210978000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:210953400-210974400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:210965800-210975600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:210966800-210976800	Weak transcription	A549	lung
5	chr1:210967000-210979600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:210967400-210985000	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:210970800-210975400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:210971000-210978800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:210971200-210974200	Weak transcription	HSMM	muscle
10	chr1:210971200-210976200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:210973000-210974000	Strong transcription	HSMMtube	muscle
12	chr1:210973200-210974000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:210973400-210974600	Enhancers	Brain Angular Gyrus	brain
14	chr1:210973400-210975000	Enhancers	Placenta	Placenta
15	chr1:210973600-210974600	Weak transcription	Esophagus	oesophagus
16	chr1:210973800-210975600	Enhancers	Fetal Heart	heart

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