Variant report

Variant	rs374032750
Chromosome Location	chr5:167718452-167718453
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	E2F4	chr5:167718322-167718829	MCF10A-Er-Src	breast:	n/a	chr5:167718535-167718545 chr5:167718625-167718635
2	CTCF	chr5:167718340-167718490	GM06990	blood:	n/a	n/a
3	ZBTB7A	chr5:167718316-167718884	ECC-1	luminal epithelium:	n/a	chr5:167718558-167718567
4	MAZ	chr5:167718166-167719988	Hela-S3	cervix:	n/a	chr5:167718916-167718925
5	ZKSCAN1	chr5:167718205-167718704	Hela-S3	cervix:	n/a	n/a
6	MAX	chr5:167718233-167719174	MCF-7	breast:	n/a	chr5:167718916-167718925
7	RAD21	chr5:167718301-167718844	H1-hESC	embryonic stem cell:	n/a	chr5:167718552-167718566
8	CTCF	chr5:167718435-167718891	GM12891	blood:	n/a	chr5:167718555-167718565 chr5:167718551-167718567 chr5:167718553-167718566 chr5:167718553-167718566
9	CTCF	chr5:167718400-167718550	RPTEC	kidney:	n/a	n/a
10	HEY1	chr5:167718320-167718802	HepG2	liver:	n/a	chr5:167718674-167718689
11	RAD21	chr5:167718371-167718821	HepG2	liver:	n/a	chr5:167718552-167718566
12	CHD2	chr5:167718389-167718782	GM12878	blood:	n/a	n/a
13	CHD2	chr5:167718128-167719602	Hela-S3	cervix:	n/a	chr5:167719438-167719448 chr5:167719413-167719423 chr5:167718942-167718952
14	MYC	chr5:167718025-167718727	MCF10A-Er-Src	breast:	n/a	n/a
15	CTCF	chr5:167718420-167718570	HAc	cerebellar:	n/a	chr5:167718555-167718565 chr5:167718551-167718567 chr5:167718553-167718566 chr5:167718553-167718566
16	TBP	chr5:167718175-167719107	H1-hESC	embryonic stem cell:	n/a	n/a
17	YY1	chr5:167718294-167718812	H1-hESC	embryonic stem cell:	n/a	chr5:167718656-167718667
18	CTCF	chr5:167718420-167718570	AG10803	skin:	n/a	chr5:167718555-167718565 chr5:167718551-167718567 chr5:167718553-167718566 chr5:167718553-167718566
19	POLR2A	chr5:167718315-167718993	A549	lung:	n/a	n/a
20	POLR2A	chr5:167718216-167719568	HepG2	liver:	n/a	n/a
21	CTCF	chr5:167718440-167718590	GM12869	blood:	n/a	chr5:167718555-167718565 chr5:167718551-167718567 chr5:167718553-167718566 chr5:167718553-167718566
22	RAD21	chr5:167718363-167718775	HepG2	liver:	n/a	chr5:167718552-167718566
23	STAT3	chr5:167718114-167718589	MCF10A-Er-Src	breast:	n/a	n/a
24	TAF1	chr5:167718398-167718808	A549	lung:	n/a	n/a
25	BCL3	chr5:167718104-167718774	A549	lung:	n/a	n/a
26	CTCF	chr5:167718440-167718590	GM06990	blood:	n/a	chr5:167718555-167718565 chr5:167718551-167718567 chr5:167718553-167718566 chr5:167718553-167718566
27	CTCF	chr5:167718320-167718470	A549	lung:	n/a	n/a
28	POLR2A	chr5:167718332-167718845	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr5:167718388-167718883	GM12878	blood:	n/a	chr5:167718555-167718565 chr5:167718551-167718567 chr5:167718553-167718566 chr5:167718553-167718566
30	SMARCB1	chr5:167718239-167720226	Hela-S3	cervix:	n/a	n/a
31	PML	chr5:167718146-167718870	MCF-7	breast:	n/a	n/a
32	MAZ	chr5:167718080-167720173	IMR90	lung:	n/a	chr5:167718916-167718925
33	NR3C1	chr5:167718337-167719148	A549	lung:	n/a	n/a
34	CTCF	chr5:167718442-167718836	H1-hESC	embryonic stem cell:	n/a	chr5:167718555-167718565 chr5:167718551-167718567 chr5:167718553-167718566 chr5:167718553-167718566
35	MAX	chr5:167718290-167718700	SK-N-SH	brain:	n/a	n/a
36	TCF12	chr5:167718186-167718843	ECC-1	luminal epithelium:	n/a	chr5:167718686-167718693
37	ZEB1	chr5:167718084-167718999	HepG2	liver:	n/a	chr5:167718485-167718492
38	RAD21	chr5:167718431-167719582	IMR90	lung:	n/a	chr5:167718917-167718929 chr5:167718552-167718566
39	YY1	chr5:167718287-167718803	HCT-116	colon:	n/a	chr5:167718656-167718667
40	POLR2A	chr5:167718353-167719008	Raji	blood:	n/a	n/a
41	CTCF	chr5:167718368-167718682	A549	lung:	n/a	chr5:167718555-167718565 chr5:167718551-167718567 chr5:167718553-167718566 chr5:167718553-167718566
42	RELA	chr5:167718044-167718747	GM19099	blood:	n/a	n/a
43	RAD21	chr5:167718334-167718746	SK-N-SH_RA	brain:	n/a	chr5:167718552-167718566
44	MAX	chr5:167718403-167719878	H1-hESC	embryonic stem cell:	n/a	chr5:167718916-167718925
45	ZNF143	chr5:167718006-167718747	Hela-S3	cervix:	n/a	n/a
46	HDAC2	chr5:167718187-167718790	HepG2	liver:	n/a	n/a
47	RAD21	chr5:167718325-167719017	ECC-1	luminal epithelium:	n/a	chr5:167718917-167718929 chr5:167718552-167718566
48	ELF1	chr5:167718419-167718766	HepG2	liver:	n/a	n/a
49	POLR2A	chr5:167718210-167718975	ECC-1	luminal epithelium:	n/a	n/a
50	ATF2	chr5:167718199-167718704	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:167703411..167705760-chr5:167716598..167718533,2	MCF-7	breast:
2	chr5:167715928..167721153-chr5:167739241..167745348,16	MCF-7	breast:
3	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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167717800-167719200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr5:167717800-167719400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr5:167717800-167720000	Active TSS	H1 Cell Line	embryonic stem cell
4	chr5:167717800-167720400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr5:167717800-167720800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr5:167718000-167718600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:167718000-167718600	Flanking Active TSS	Liver	Liver
8	chr5:167718000-167718600	Flanking Active TSS	Fetal Brain Male	brain
9	chr5:167718000-167718600	Flanking Active TSS	Fetal Lung	lung
10	chr5:167718000-167718600	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr5:167718000-167718600	Flanking Active TSS	GM12878-XiMat	blood
12	chr5:167718000-167718800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:167718000-167718800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:167718000-167719200	Enhancers	Primary B cells from peripheral blood	blood
15	chr5:167718000-167719400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:167718000-167719800	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr5:167718000-167719800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:167718000-167719800	Active TSS	Esophagus	oesophagus
19	chr5:167718000-167720000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:167718000-167720400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:167718000-167720600	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr5:167718200-167718600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:167718200-167718600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:167718200-167718600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
25	chr5:167718200-167718600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
26	chr5:167718200-167718600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:167718200-167718600	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
28	chr5:167718200-167718600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr5:167718200-167718600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
30	chr5:167718200-167718600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
31	chr5:167718200-167718600	Bivalent Enhancer	Brain Substantia Nigra	brain
32	chr5:167718200-167718600	Flanking Active TSS	Colonic Mucosa	Colon
33	chr5:167718200-167718600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
34	chr5:167718200-167718600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
35	chr5:167718200-167718600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
36	chr5:167718200-167718600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr5:167718200-167718800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:167718200-167718800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
39	chr5:167718200-167718800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr5:167718200-167718800	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr5:167718200-167718800	Bivalent Enhancer	HUVEC	blood vessel
42	chr5:167718200-167719200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:167718200-167719400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
44	chr5:167718200-167719400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:167718200-167719400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:167718200-167719400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr5:167718200-167719600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr5:167718200-167719600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:167718200-167719800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:167718200-167719800	Active TSS	Pancreas	Pancrea

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