Variant report

Variant	rs588334
Chromosome Location	chr6:144602258-144602259
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	chr6:144600510..144602933-chr6:144605891..144607849,3	MCF-7	breast:
2	chr6:144601184..144602939-chr6:144604140..144606671,2	K562	blood:

Variant related genes	Relation type
ENSG00000152818	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs588629	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs601461	0.83[ASN][1000 genomes]
rs608308	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs636408	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs636799	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs643885	0.92[EUR][1000 genomes]
rs656471	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs849662	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs849668	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830831	chr6:144501371-144649509	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144587800-144605000	Weak transcription	Right Atrium	heart
2	chr6:144587800-144605800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:144599200-144605000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:144600000-144603600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:144600200-144602600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr6:144600200-144604600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:144600200-144604600	Weak transcription	Placenta	Placenta
8	chr6:144600200-144605000	Weak transcription	A549	lung
9	chr6:144600200-144605200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr6:144600200-144605400	Weak transcription	Pancreas	Pancrea
11	chr6:144600200-144605400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr6:144600400-144604200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:144600400-144604800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:144600400-144604800	Weak transcription	NHEK	skin
15	chr6:144600400-144605000	Weak transcription	Adipose Nuclei	Adipose
16	chr6:144600400-144605000	Weak transcription	Liver	Liver
17	chr6:144600400-144605000	Weak transcription	Hela-S3	cervix
18	chr6:144600600-144602400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr6:144600600-144604800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:144600600-144604800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:144601000-144605000	Weak transcription	HMEC	breast
22	chr6:144601000-144605400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:144601200-144604800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:144601200-144605000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr6:144601200-144605200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:144601400-144602400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr6:144601400-144604800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:144602200-144602400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr6:144602200-144602400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr6:144602200-144602400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr6:144602200-144602600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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