Variant report

Variant	rs12568210
Chromosome Location	chr1:45172257-45172258
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45171451..45174292-chr1:45285425..45287310,2	MCF-7	breast:
2	chr1:45101139..45104291-chr1:45172193..45175245,3	K562	blood:
3	chr1:45171369..45177382-chr1:45282549..45286855,7	K562	blood:
4	chr1:45171946..45173521-chr1:45223386..45225623,2	MCF-7	breast:
5	chr1:45172190..45175553-chr1:45284128..45286423,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000202444	Chromatin interaction
ENSG00000187147	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11585861	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs41390645	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
5	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
6	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45146000-45172400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:45159200-45172800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:45161200-45173800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:45162600-45172400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:45163200-45173800	Weak transcription	Primary T cells from cord blood	blood
6	chr1:45164800-45173400	Weak transcription	GM12878-XiMat	blood
7	chr1:45167000-45173400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:45167200-45173200	Weak transcription	Placenta	Placenta
9	chr1:45169000-45172400	Weak transcription	Esophagus	oesophagus
10	chr1:45169200-45173200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:45169200-45180600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:45171600-45172400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:45171600-45173000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:45171600-45173200	Enhancers	NHDF-Ad	bronchial
15	chr1:45171600-45174600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:45171800-45173800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:45171800-45173800	Enhancers	HepG2	liver
18	chr1:45171800-45174400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:45172000-45172800	Weak transcription	A549	lung
20	chr1:45172000-45174400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:45172000-45174600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:45172200-45173200	Enhancers	Osteobl	bone
23	chr1:45172200-45174400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:45172200-45174400	Enhancers	NHLF	lung
25	chr1:45172200-45180600	Weak transcription	Right Atrium	heart

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