Variant report

Variant	rs2288892
Chromosome Location	chr19:51528890-51528891
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr19:51528757-51528894	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51528626..51530199-chr19:51536075..51538623,2	MCF-7	breast:
2	chr19:51301276..51304039-chr19:51527305..51529932,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268906	TF binding region
KLK11	TF binding region
ENSG00000221381	Chromatin interaction
ENSG00000221241	Chromatin interaction
ENSG00000186474	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10403407	1.00[TSI][hapmap]
rs183854	1.00[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912291	chr19:51505725-51537682	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 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	chr19:51523400-51549000	Weak transcription	Right Atrium	heart
2	chr19:51524800-51529400	Weak transcription	HMEC	breast
3	chr19:51525000-51539800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr19:51527400-51529000	Enhancers	Pancreas	Pancrea
5	chr19:51527600-51531000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:51528000-51530400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr19:51528000-51531200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr19:51528200-51529000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr19:51528200-51531000	Active TSS	Esophagus	oesophagus
10	chr19:51528400-51529000	Bivalent Enhancer	Fetal Stomach	stomach
11	chr19:51528400-51529200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr19:51528400-51529200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr19:51528400-51529200	Bivalent Enhancer	Right Ventricle	heart
14	chr19:51528400-51531200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:51528600-51529000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr19:51528600-51529200	Enhancers	Stomach Mucosa	stomach
17	chr19:51528600-51531000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
18	chr19:51528600-51531000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr19:51528800-51529000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr19:51528800-51529000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr19:51528800-51529600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:51528800-51529800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr19:51528800-51529800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr19:51528800-51531000	Active TSS	Gastric	stomach
25	chr19:51528800-51531200	Enhancers	Ovary	ovary

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