Variant report

Variant	rs12121566
Chromosome Location	chr1:210679381-210679382
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	chr1:210679010..210681998-chr1:210700828..210702736,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10735507	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs11119520	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11119521	0.87[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs11119522	0.87[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs11119523	0.82[ASN][1000 genomes]
rs6540601	0.93[EUR][1000 genomes]
rs6672183	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]

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	nsv873147	chr1:210665583-210696806	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210674400-210719600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:210677800-210680400	Enhancers	Fetal Heart	heart
3	chr1:210677800-210680600	Enhancers	HSMMtube	muscle
4	chr1:210678400-210680600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:210678600-210679400	Enhancers	Fetal Muscle Trunk	muscle
6	chr1:210678600-210680000	Enhancers	Fetal Brain Male	brain
7	chr1:210678600-210680400	Enhancers	Fetal Brain Female	brain
8	chr1:210678800-210679400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:210678800-210679400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:210678800-210679600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:210678800-210679600	Enhancers	Fetal Muscle Leg	muscle
12	chr1:210678800-210679800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:210678800-210679800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:210678800-210679800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:210678800-210680000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:210678800-210680000	Enhancers	HSMM	muscle
17	chr1:210678800-210680600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:210679000-210679400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:210679000-210679400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:210679000-210679400	Enhancers	Aorta	Aorta
21	chr1:210679000-210679600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:210679000-210679600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:210679000-210680000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr1:210679200-210679400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:210679200-210679600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:210679200-210679600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:210679200-210679600	Enhancers	Left Ventricle	heart
28	chr1:210679200-210679600	Enhancers	Right Ventricle	heart

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