Variant report

Variant	rs567498479
Chromosome Location	chr4:119244636-119244637
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	PBX3	chr4:119243943-119244830	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr4:119244315-119244807	SH-SY5Y	brain:	n/a	chr4:119244565-119244581
3	TCF12	chr4:119243908-119244875	SK-N-SH	brain:	n/a	n/a
4	EP300	chr4:119243944-119244873	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr4:119244056-119244841	SK-N-SH	brain:	n/a	chr4:119244565-119244581
6	GATA3	chr4:119243856-119244945	SK-N-SH	brain:	n/a	chr4:119244565-119244581
7	EP300	chr4:119244130-119244682	SK-N-SH_RA	brain:	n/a	n/a
8	TCF12	chr4:119243868-119244897	SK-N-SH	brain:	n/a	n/a
9	NFIC	chr4:119243874-119244884	SK-N-SH	brain:	n/a	n/a
10	EP300	chr4:119244129-119244701	SK-N-SH_RA	brain:	n/a	n/a
11	PBX3	chr4:119244025-119244712	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr4:119244117-119244720	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:119238222..119241031-chr4:119243749..119246100,2	MCF-7	breast:
2	chr4:119203588..119205847-chr4:119243222..119244861,2	MCF-7	breast:
3	chr4:119201888..119204212-chr4:119242827..119245700,4	K562	blood:
4	chr4:119205014..119207897-chr4:119243255..119244938,2	K562	blood:
5	chr4:119199610..119201331-chr4:119243734..119245507,2	K562	blood:
6	chr4:119201888..119204212-chr4:119242827..119245536,2	K562	blood:

Variant related genes	Relation type
PRSS12	TF binding region
ENSG00000269893	Chromatin interaction
ENSG00000164099	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1009076	chr4:118949490-119269424	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1001236	chr4:118949490-119271243	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	esv3408889	chr4:119243370-119247305	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3467350	chr4:119243552-119247153	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3467351	chr4:119243584-119247192	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv3467349	chr4:119243619-119247182	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv3467353	chr4:119243714-119247081	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119202800-119267200	Weak transcription	Stomach Mucosa	stomach
2	chr4:119209600-119258600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:119210000-119259200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:119210200-119258600	Weak transcription	HMEC	breast
5	chr4:119212600-119259200	Weak transcription	NHEK	skin
6	chr4:119216400-119249800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:119220200-119260000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:119229000-119267200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:119233000-119246600	Weak transcription	Fetal Stomach	stomach
10	chr4:119237600-119250800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:119239800-119259200	Weak transcription	Fetal Brain Male	brain
12	chr4:119240800-119246600	Weak transcription	NHLF	lung
13	chr4:119241000-119246200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:119241200-119248800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr4:119243400-119245200	Enhancers	Fetal Lung	lung
16	chr4:119243800-119244800	Enhancers	Osteobl	bone
17	chr4:119243800-119252800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:119243800-119259000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:119244000-119244800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:119244200-119244800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:119244200-119246200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:119244400-119244800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr4:119244400-119244800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:119244400-119245600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr4:119244400-119246600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:119244400-119246600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:119244400-119246800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr4:119244600-119246200	Weak transcription	NHDF-Ad	bronchial
29	chr4:119244600-119246600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr4:119244600-119246600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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