Variant report

Variant	rs73977693
Chromosome Location	chr2:178516983-178516984
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178514800..178517302-chr2:178520225..178521969,2	K562	blood:
2	chr2:178507100..178511896-chr2:178515301..178517578,4	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16865476	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4555380	1.00[AMR][1000 genomes]
rs6712307	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977672	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977675	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977677	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977679	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977684	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977685	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977698	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73977699	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979509	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979510	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73979511	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7559596	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7575717	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178515200-178519000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:178515800-178517000	Enhancers	Fetal Kidney	kidney
3	chr2:178516000-178517200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
4	chr2:178516000-178518600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:178516000-178518600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:178516000-178518800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:178516200-178517200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:178516200-178517800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:178516200-178517800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:178516200-178518400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:178516200-178518600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:178516200-178518600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:178516400-178517000	Enhancers	Brain Germinal Matrix	brain
14	chr2:178516400-178517200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:178516400-178517200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:178516400-178517600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:178516400-178518600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr2:178516600-178517000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:178516600-178517000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:178516600-178517000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:178516600-178517200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:178516600-178517400	Enhancers	Left Ventricle	heart
23	chr2:178516600-178517800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr2:178516600-178518200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr2:178516800-178517200	Enhancers	Fetal Brain Male	brain
26	chr2:178516800-178517400	Enhancers	Right Atrium	heart

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