Variant report

Variant	rs557159742
Chromosome Location	chr19:51416270-51416271
allele	C/G
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	EGR1	chr19:51416062-51416360	K562	blood:	n/a	chr19:51416184-51416199
2	RUNX3	chr19:51415903-51416420	GM12878	blood:	n/a	n/a
3	JUND	chr19:51416034-51416312	K562	blood:	n/a	n/a
4	ZNF143	chr19:51416109-51416358	H1-hESC	embryonic stem cell:	n/a	chr19:51416208-51416218
5	RUNX3	chr19:51415991-51416402	GM12878	blood:	n/a	n/a
6	EGR1	chr19:51416063-51416277	K562	blood:	n/a	chr19:51416184-51416199
7	EBF1	chr19:51416006-51416389	GM12878	blood:	n/a	n/a
8	BCL11A	chr19:51416042-51416277	GM12878	blood:	n/a	n/a
9	EP300	chr19:51416101-51416321	GM12878	blood:	n/a	chr19:51416208-51416217
10	TEAD4	chr19:51416078-51416448	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr19:51416066-51416289	GM12878	blood:	n/a	n/a
12	PAX5	chr19:51415964-51416375	GM12878	blood:	n/a	n/a
13	BHLHE40	chr19:51416023-51416355	GM12878	blood:	n/a	chr19:51416232-51416248
14	EP300	chr19:51416129-51416333	GM12878	blood:	n/a	chr19:51416208-51416217
15	MYC	chr19:51415990-51416274	MCF-7	breast:	n/a	n/a
16	TEAD4	chr19:51416060-51416419	H1-hESC	embryonic stem cell:	n/a	n/a
17	TBL1XR1	chr19:51416087-51416291	GM12878	blood:	n/a	n/a
18	MAZ	chr19:51416050-51416288	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51293560..51298277-chr19:51413419..51418761,7	K562	blood:

Variant related genes	Relation type
KLK4	TF binding region
ENSG00000142513	Chromatin interaction
ENSG00000268375	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	esv3438577	chr19:51414940-51419738	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
4	esv3512692	chr19:51415440-51418251	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	esv3512693	chr19:51415440-51418251	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
6	esv3345084	chr19:51416258-51418089	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51410800-51418400	Weak transcription	Right Atrium	heart
2	chr19:51415400-51416400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr19:51415600-51416400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:51415600-51416600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr19:51415600-51416600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr19:51415800-51416400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr19:51415800-51416400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:51415800-51416600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
9	chr19:51415800-51416600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr19:51416000-51416400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr19:51416000-51416400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr19:51416000-51416600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr19:51416000-51416600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr19:51416000-51416600	Bivalent Enhancer	HMEC	breast
15	chr19:51416000-51416800	Bivalent Enhancer	Esophagus	oesophagus
16	chr19:51416200-51416400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr19:51416200-51416400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr19:51416200-51416400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
19	chr19:51416200-51416400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:51416200-51416400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
21	chr19:51416200-51416400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:51416200-51416400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr19:51416200-51416400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr19:51416200-51416400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr19:51416200-51416400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
26	chr19:51416200-51416800	Bivalent Enhancer	Primary B cells from peripheral blood	blood

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