Variant report

Variant	rs371320632
Chromosome Location	chr4:22517773-22517774
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	MAX	chr4:22517704-22518317	ECC-1	luminal epithelium:	n/a	n/a
2	MAZ	chr4:22517341-22518305	IMR90	lung:	n/a	n/a
3	E2F6	chr4:22517594-22518235	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr4:22516823-22518178	A549	lung:	n/a	n/a
5	POLR2A	chr4:22517307-22517802	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr4:22517261-22518135	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr4:22516558-22518511	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr4:22517593-22518130	PANC-1	pancreas:	n/a	n/a
9	ZBTB7A	chr4:22517451-22517989	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr4:22517435-22518032	HUVEC	blood vessel:	n/a	n/a
11	MAX	chr4:22517448-22518266	SK-N-SH	brain:	n/a	n/a
12	CHD1	chr4:22517423-22517962	GM12878	blood:	n/a	chr4:22517427-22517437
13	YY1	chr4:22516757-22518175	HepG2	liver:	n/a	chr4:22517570-22517581
14	POLR2A	chr4:22516598-22518446	H1-hESC	embryonic stem cell:	n/a	n/a
15	TAF7	chr4:22517705-22518192	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr4:22515695-22520041	MCF10A-Er-Src	breast:	n/a	n/a
17	MYC	chr4:22515742-22518396	MCF10A-Er-Src	breast:	n/a	chr4:22516853-22516862
18	MAX	chr4:22517458-22518389	HCT-116	colon:	n/a	n/a
19	TAF1	chr4:22517513-22517978	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr4:22516532-22518483	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr4:22517374-22518023	HCT-116	colon:	n/a	n/a
22	POLR2A	chr4:22517428-22517974	HepG2	liver:	n/a	n/a
23	MYC	chr4:22516829-22517778	MCF-7	breast:	n/a	chr4:22516853-22516862
24	HA-E2F1	chr4:22516751-22518028	Hela-S3	cervix:	n/a	chr4:22517416-22517426 chr4:22517052-22517059
25	POLR2A	chr4:22517461-22517888	SK-N-SH	brain:	n/a	n/a
26	HA-E2F1	chr4:22516551-22518396	MCF-7	breast:	n/a	chr4:22517416-22517426 chr4:22517052-22517059
27	TAF1	chr4:22517445-22517986	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr4:22516862-22518166	A549	lung:	n/a	n/a
29	MAX	chr4:22516547-22518392	A549	lung:	n/a	chr4:22516853-22516862
30	POLR2A	chr4:22517470-22518004	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr4:22515612-22519946	HepG2	liver:	n/a	n/a
32	YY1	chr4:22517691-22517943	HCT-116	colon:	n/a	n/a
33	POLR2A	chr4:22516761-22518082	ECC-1	luminal epithelium:	n/a	n/a
34	E2F6	chr4:22517595-22518432	H1-hESC	embryonic stem cell:	n/a	n/a
35	ZNF263	chr4:22516251-22518354	HEK293-T-REx	kidney:	n/a	chr4:22517820-22517829 chr4:22517644-22517665
36	POLR2A	chr4:22517749-22517934	A549	lung:	n/a	n/a
37	MAX	chr4:22517376-22518339	H1-hESC	embryonic stem cell:	n/a	n/a
38	TCF7L2	chr4:22516620-22518040	HCT-116	colon:	n/a	n/a
39	MAX	chr4:22516801-22518074	HepG2	liver:	n/a	chr4:22516853-22516862
40	TBP	chr4:22516636-22518285	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr4:22516636-22518185	H1-hESC	embryonic stem cell:	n/a	n/a
42	MXI1	chr4:22515279-22518390	IMR90	lung:	n/a	n/a
43	POLR2A	chr4:22515945-22519288	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr4:22516926-22517801	HepG2	liver:	n/a	n/a
45	SIN3AK20	chr4:22517353-22518017	PANC-1	pancreas:	n/a	n/a
46	MXI1	chr4:22515405-22518591	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr4:22517686-22518149	HepG2	liver:	n/a	n/a
48	TAF1	chr4:22516506-22518273	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr4:22517413-22518112	H1-neurons	neurons:	n/a	n/a
50	TBP	chr4:22516603-22517905	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12076450..12076959-chr4:22517248..22517778,2	HCT-116	colon:
2	chr4:22517567..22518315-chr4:76649363..76650054,2	HCT-116	colon:

Variant related genes	Relation type
GPR125	TF binding region
ENSG00000256616	Chromatin interaction
ENSG00000138768	Chromatin interaction
ENSG00000138757	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	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3375345	chr4:22516479-22519027	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3410356	chr4:22516604-22518702	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	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	chr4:22515200-22518000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:22515200-22518200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr4:22515400-22518000	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr4:22515400-22518200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr4:22515600-22518000	Active TSS	Fetal Muscle Leg	muscle
6	chr4:22515600-22518200	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr4:22515600-22518400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr4:22515600-22518400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:22515600-22518400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:22515600-22518400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:22515800-22517800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:22515800-22518000	Active TSS	H1 Cell Line	embryonic stem cell
13	chr4:22515800-22518000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:22515800-22518000	Active TSS	HMEC	breast
15	chr4:22515800-22518200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:22515800-22518200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:22515800-22518200	Active TSS	Aorta	Aorta
18	chr4:22515800-22518200	Active TSS	Brain Substantia Nigra	brain
19	chr4:22515800-22518400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:22515800-22518400	Active TSS	Psoas Muscle	Psoas
21	chr4:22515800-22518400	Active TSS	HSMM	muscle
22	chr4:22515800-22518800	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr4:22516000-22518000	Active TSS	Fetal Intestine Large	intestine
24	chr4:22516000-22518000	Active TSS	Right Ventricle	heart
25	chr4:22516000-22518000	Active TSS	Hela-S3	cervix
26	chr4:22516000-22518200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr4:22516000-22518200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:22516000-22518200	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr4:22516000-22518200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr4:22516000-22518200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:22516000-22518200	Active TSS	Fetal Intestine Small	intestine
32	chr4:22516000-22518400	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr4:22516000-22518400	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr4:22516000-22518400	Active TSS	Ovary	ovary
35	chr4:22516000-22518400	Active TSS	Right Atrium	heart
36	chr4:22516000-22518600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:22516200-22517800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:22516200-22518000	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr4:22516200-22518000	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr4:22516200-22518000	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr4:22516200-22518000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr4:22516200-22518200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:22516200-22518200	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr4:22516200-22518200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:22516200-22518200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:22516200-22518200	Active TSS	Colon Smooth Muscle	Colon
47	chr4:22516200-22518200	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr4:22516200-22518200	Active TSS	Left Ventricle	heart
49	chr4:22516200-22518200	Active TSS	Pancreas	Pancrea
50	chr4:22516200-22518200	Active TSS	Rectal Smooth Muscle	rectum

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