Variant report

Variant	rs546705787
Chromosome Location	chr5:167718074-167718075
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	MYC	chr5:167718025-167718727	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr5:167718004-167718326	H1-hESC	embryonic stem cell:	n/a	n/a
3	TCF12	chr5:167718061-167718388	H1-hESC	embryonic stem cell:	n/a	n/a
4	RELA	chr5:167718044-167718747	GM19099	blood:	n/a	n/a
5	ZNF143	chr5:167718006-167718747	Hela-S3	cervix:	n/a	n/a
6	SP1	chr5:167717987-167718858	A549	lung:	n/a	chr5:167718605-167718614 chr5:167718460-167718472 chr5:167718461-167718475 chr5:167718637-167718649
7	POLR2A	chr5:167716728-167722319	MCF10A-Er-Src	breast:	n/a	n/a
8	CHD2	chr5:167718042-167718760	H1-hESC	embryonic stem cell:	n/a	n/a
9	TCF12	chr5:167717776-167718902	A549	lung:	n/a	chr5:167718686-167718693
10	MAX	chr5:167717753-167719758	A549	lung:	n/a	chr5:167718916-167718925
11	ZNF143	chr5:167718020-167718822	H1-hESC	embryonic stem cell:	n/a	n/a
12	RELA	chr5:167718051-167718964	GM19193	blood:	n/a	n/a
13	MXI1	chr5:167717927-167720093	IMR90	lung:	n/a	chr5:167719326-167719335
14	CBX3	chr5:167717974-167719000	HCT-116	colon:	n/a	n/a
15	SP1	chr5:167718061-167718951	HCT-116	colon:	n/a	chr5:167718605-167718614 chr5:167718460-167718472 chr5:167718461-167718475 chr5:167718637-167718649
16	SIN3A	chr5:167718022-167720202	H1-hESC	embryonic stem cell:	n/a	chr5:167719118-167719127 chr5:167719001-167719014 chr5:167718594-167718607 chr5:167719481-167719494 chr5:167718874-167718885 chr5:167718983-167718996
17	CEBPB	chr5:167718009-167718689	A549	lung:	n/a	n/a
18	SP1	chr5:167718029-167718824	H1-hESC	embryonic stem cell:	n/a	chr5:167718605-167718614 chr5:167718460-167718472 chr5:167718461-167718475 chr5:167718637-167718649
19	ZBTB7A	chr5:167718027-167718813	ECC-1	luminal epithelium:	n/a	chr5:167718558-167718567
20	JUND	chr5:167718072-167718789	H1-hESC	embryonic stem cell:	n/a	n/a
21	BCL3	chr5:167717995-167718746	A549	lung:	n/a	n/a
22	CTCF	chr5:167717842-167719005	A549	lung:	n/a	chr5:167718937-167718950 chr5:167718555-167718565 chr5:167718551-167718567 chr5:167718553-167718566 chr5:167718553-167718566
23	ZNF263	chr5:167717916-167719208	HEK293-T-REx	kidney:	n/a	n/a
24	SP1	chr5:167718012-167718836	A549	lung:	n/a	chr5:167718605-167718614 chr5:167718460-167718472 chr5:167718461-167718475 chr5:167718637-167718649
25	ZNF143	chr5:167717931-167718188	GM12878	blood:	n/a	n/a
26	POLR2A	chr5:167718049-167719305	H1-hESC	embryonic stem cell:	n/a	n/a
27	RCOR1	chr5:167718023-167718821	Hela-S3	cervix:	n/a	n/a
28	TCF12	chr5:167718044-167719317	ECC-1	luminal epithelium:	n/a	chr5:167718969-167718979 chr5:167718686-167718693

No.	Distal block	Cell Line	Cell type
1	chr5:167703411..167705760-chr5:167716598..167718533,2	MCF-7	breast:
2	chr5:167696952..167697760-chr5:167717873..167718444,2	MCF-7	breast:
3	chr5:167715928..167721153-chr5:167739241..167745348,16	MCF-7	breast:
4	chr5:167716529..167718566-chr5:167880589..167883099,2	MCF-7	breast:

Variant related genes	Relation type
WWC1	TF binding region
ENSG00000113645	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534607	chr5:167661667-168454396	Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv949154	chr5:167691208-168323234	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv3366386	chr5:167717474-167720872	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3397146	chr5:167717924-167720922	Enhancers Genic enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167712600-167718400	Weak transcription	Gastric	stomach
2	chr5:167713200-167718200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:167714000-167718200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:167714600-167718200	Enhancers	Fetal Intestine Small	intestine
5	chr5:167715800-167718200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:167716200-167718200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:167716200-167718200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:167716400-167718200	Weak transcription	NH-A	brain
9	chr5:167717000-167718200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:167717200-167718200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:167717200-167718200	Enhancers	HSMMtube	muscle
12	chr5:167717800-167718200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr5:167717800-167718200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr5:167717800-167718200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr5:167717800-167718200	Enhancers	Pancreas	Pancrea
16	chr5:167717800-167718200	Flanking Active TSS	A549	lung
17	chr5:167717800-167718400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr5:167717800-167718400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr5:167717800-167718400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:167717800-167718400	Flanking Active TSS	HepG2	liver
21	chr5:167717800-167719200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr5:167717800-167719400	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr5:167717800-167720000	Active TSS	H1 Cell Line	embryonic stem cell
24	chr5:167717800-167720400	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr5:167717800-167720800	Active TSS	H9 Cell Line	embryonic stem cell
26	chr5:167718000-167718200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:167718000-167718200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:167718000-167718200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:167718000-167718200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr5:167718000-167718200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:167718000-167718200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr5:167718000-167718200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:167718000-167718200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:167718000-167718200	Bivalent Enhancer	Adipose Nuclei	Adipose
35	chr5:167718000-167718200	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
36	chr5:167718000-167718200	Bivalent Enhancer	Brain Germinal Matrix	brain
37	chr5:167718000-167718200	Bivalent Enhancer	Brain Hippocampus Middle	brain
38	chr5:167718000-167718200	Enhancers	Colonic Mucosa	Colon
39	chr5:167718000-167718200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
40	chr5:167718000-167718200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr5:167718000-167718200	Flanking Active TSS	Fetal Brain Female	brain
42	chr5:167718000-167718200	Bivalent Enhancer	Fetal Stomach	stomach
43	chr5:167718000-167718200	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr5:167718000-167718200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
45	chr5:167718000-167718200	Flanking Active TSS	HMEC	breast
46	chr5:167718000-167718400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:167718000-167718400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:167718000-167718400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:167718000-167718400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:167718000-167718400	Active TSS	Primary hematopoietic stem cells	blood

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