Variant report

Variant	rs572153032
Chromosome Location	chr4:75023429-75023430
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	SIN3AK20	chr4:75023176-75024249	HCT-116	colon:	n/a	n/a
2	TCF12	chr4:75023349-75024066	ECC-1	luminal epithelium:	n/a	n/a
3	BHLHE40	chr4:75023367-75024606	GM12878	blood:	n/a	chr4:75023644-75023660 chr4:75024010-75024026 chr4:75024026-75024042 chr4:75024005-75024021
4	POLR2A	chr4:75023261-75024021	K562	blood:	n/a	n/a
5	BCLAF1	chr4:75023212-75023918	K562	blood:	n/a	n/a
6	MYC	chr4:75023345-75024393	K562	blood:	n/a	chr4:75024298-75024309 chr4:75024298-75024308 chr4:75024299-75024309 chr4:75024297-75024310 chr4:75024299-75024306 chr4:75024295-75024310 chr4:75024297-75024307 chr4:75024300-75024309 chr4:75024297-75024310 chr4:75024297-75024312 chr4:75024299-75024308 chr4:75024298-75024309 chr4:75024298-75024307 chr4:75024298-75024309
7	MYBL2	chr4:75023272-75023986	HepG2	liver:	n/a	n/a
8	E2F6	chr4:75023402-75024378	K562	blood:	n/a	chr4:75023646-75023655 chr4:75023641-75023651
9	ATF3	chr4:75023411-75023934	A549	lung:	n/a	chr4:75023646-75023655
10	TAF1	chr4:75023397-75024034	SK-N-SH	brain:	n/a	n/a
11	SP1	chr4:75023374-75024041	K562	blood:	n/a	chr4:75023646-75023655 chr4:75023773-75023785 chr4:75023644-75023656 chr4:75023645-75023655 chr4:75023645-75023655 chr4:75023645-75023659 chr4:75023773-75023785 chr4:75023645-75023654 chr4:75023770-75023784 chr4:75023644-75023656 chr4:75023645-75023654
12	MAX	chr4:75023292-75024431	HepG2	liver:	n/a	chr4:75024298-75024309 chr4:75024298-75024308 chr4:75024299-75024309 chr4:75024297-75024310 chr4:75024299-75024306 chr4:75024295-75024310 chr4:75024297-75024307 chr4:75024300-75024309 chr4:75024297-75024310 chr4:75024297-75024312 chr4:75024299-75024308 chr4:75024298-75024309 chr4:75024298-75024307 chr4:75024298-75024309
13	FOS	chr4:75022848-75023827	HUVEC	blood vessel:	n/a	n/a
14	MYC	chr4:75023366-75023916	MCF10A-Er-Src	breast:	n/a	n/a
15	MXI1	chr4:75023021-75023940	K562	blood:	n/a	n/a
16	NR2F2	chr4:75023366-75024019	K562	blood:	n/a	n/a
17	POLR2A	chr4:75022946-75024297	K562	blood:	n/a	n/a
18	POLR2A	chr4:75022991-75025136	PBDE	blood:	n/a	n/a
19	MAX	chr4:75023358-75024474	HUVEC	blood vessel:	n/a	chr4:75024298-75024309 chr4:75024298-75024308 chr4:75024299-75024309 chr4:75024297-75024310 chr4:75024299-75024306 chr4:75024295-75024310 chr4:75024297-75024307 chr4:75024300-75024309 chr4:75024297-75024310 chr4:75024297-75024312 chr4:75024299-75024308 chr4:75024298-75024309 chr4:75024298-75024307 chr4:75024298-75024309
20	TEAD4	chr4:75023354-75024064	ECC-1	luminal epithelium:	n/a	n/a
21	TAF7	chr4:75023307-75024048	H1-hESC	embryonic stem cell:	n/a	n/a
22	TCF7L2	chr4:75023389-75023863	PANC-1	pancreas:	n/a	n/a
23	HDAC2	chr4:75023398-75024136	H1-hESC	embryonic stem cell:	n/a	n/a
24	RUNX3	chr4:75023409-75024383	GM12878	blood:	n/a	n/a
25	POLR2A	chr4:75023343-75024299	NB4	blood:	n/a	n/a
26	EP300	chr4:75022852-75023944	K562	blood:	n/a	n/a
27	REST	chr4:75022921-75024668	H1-neurons	neurons:	n/a	chr4:75023676-75023696 chr4:75024016-75024026 chr4:75023771-75023784 chr4:75023682-75023696 chr4:75023645-75023658
28	GABPA	chr4:75023336-75024201	K562	blood:	n/a	chr4:75024010-75024019 chr4:75023646-75023655
29	CREB1	chr4:75023309-75024124	HepG2	liver:	n/a	n/a
30	MAX	chr4:75023347-75024435	H1-hESC	embryonic stem cell:	n/a	chr4:75024298-75024309 chr4:75024298-75024308 chr4:75024299-75024309 chr4:75024297-75024310 chr4:75024299-75024306 chr4:75024295-75024310 chr4:75024297-75024307 chr4:75024300-75024309 chr4:75024297-75024310 chr4:75024297-75024312 chr4:75024299-75024308 chr4:75024298-75024309 chr4:75024298-75024307 chr4:75024298-75024309
31	FOSL2	chr4:75023326-75023975	HepG2	liver:	n/a	n/a
32	HCFC1	chr4:75022751-75025210	Hela-S3	cervix:	n/a	n/a
33	MAX	chr4:75023314-75024474	H1-hESC	embryonic stem cell:	n/a	chr4:75024298-75024309 chr4:75024298-75024308 chr4:75024299-75024309 chr4:75024297-75024310 chr4:75024299-75024306 chr4:75024295-75024310 chr4:75024297-75024307 chr4:75024300-75024309 chr4:75024297-75024310 chr4:75024297-75024312 chr4:75024299-75024308 chr4:75024298-75024309 chr4:75024298-75024307 chr4:75024298-75024309
34	RELA	chr4:75023298-75024328	GM15510	blood:	n/a	n/a
35	NFIC	chr4:75023237-75024109	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr4:75022866-75024826	GM12891	blood:	n/a	n/a
37	POLR2A	chr4:75023316-75024013	SK-N-MC	brain:	n/a	n/a
38	POLR2A	chr4:75023016-75024310	K562	blood:	n/a	n/a
39	POLR2A	chr4:75022970-75024262	K562	blood:	n/a	n/a
40	TAF1	chr4:75023306-75024303	K562	blood:	n/a	n/a
41	NFIC	chr4:75023189-75023941	HepG2	liver:	n/a	n/a
42	POLR2A	chr4:75022683-75024237	HUVEC	blood vessel:	n/a	n/a
43	MXI1	chr4:75023234-75024779	GM12878	blood:	n/a	chr4:75024300-75024309
44	POLR2A	chr4:75023321-75024372	GM18526	blood:	n/a	n/a
45	RFX5	chr4:75023114-75024210	Hela-S3	cervix:	n/a	chr4:75023538-75023552 chr4:75023540-75023555 chr4:75023540-75023555
46	TAF1	chr4:75023418-75024228	HepG2	liver:	n/a	n/a
47	BRCA1	chr4:75023425-75023940	GM12878	blood:	n/a	n/a
48	TAF1	chr4:75023387-75023970	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr4:75023379-75024258	GM12892	blood:	n/a	n/a
50	CBX3	chr4:75023296-75024082	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:74964506..74967065-chr4:75022087..75025561,3	K562	blood:
2	chr11:45943916..45944612-chr4:75023138..75023638,2	HCT-116	colon:
3	chr4:74122515..74124717-chr4:75023066..75024638,2	K562	blood:
4	chr4:75023332..75025369-chr4:75145514..75147366,2	MCF-7	breast:
5	chr4:75022872..75025434-chr4:75174456..75176612,2	MCF-7	breast:
6	chr4:75022222..75023752-chr4:75142957..75145413,2	K562	blood:
7	chr4:75021911..75023462-chr4:75229589..75232447,2	K562	blood:
8	chr20:277413..278096-chr4:75023404..75023960,2	NB4	blood:
9	chr4:75000738..75003533-chr4:75021528..75023491,2	K562	blood:
10	chr4:75001823..75003533-chr4:75021528..75023480,2	K562	blood:
11	chr4:75023013..75023782-chr6:27100367..27100877,2	Hela-S3	cervix:
12	chr4:74964506..74968474-chr4:75022087..75025768,6	K562	blood:

Variant related genes	Relation type
MTHFD2L	TF binding region
ENSG00000196787	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000081041	Chromatin interaction
ENSG00000124882	Chromatin interaction
ENSG00000182585	Chromatin interaction
ENSG00000132466	Chromatin interaction
ENSG00000177764	Chromatin interaction
ENSG00000163738	Chromatin interaction
ENSG00000165905	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv594683	chr4:75013441-75106485	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1013260	chr4:75013441-75121643	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1002907	chr4:75013441-75131443	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1004706	chr4:75014770-75121643	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv594684	chr4:75015750-75106485	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	esv3346537	chr4:75022913-75025461	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75022600-75023600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:75022600-75023600	Flanking Active TSS	HUVEC	blood vessel
3	chr4:75022600-75023600	Flanking Active TSS	NHEK	skin
4	chr4:75022600-75023600	Flanking Active TSS	NHLF	lung
5	chr4:75022600-75025000	Active TSS	K562	blood
6	chr4:75022800-75023600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr4:75022800-75023600	Flanking Active TSS	HMEC	breast
8	chr4:75022800-75023800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr4:75022800-75023800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:75022800-75024600	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr4:75022800-75025200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr4:75022800-75025200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:75022800-75025400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:75023000-75023600	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr4:75023000-75023600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:75023000-75023600	Flanking Active TSS	Liver	Liver
17	chr4:75023000-75023600	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr4:75023000-75023600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr4:75023000-75023600	Flanking Active TSS	Dnd41	blood
20	chr4:75023000-75023600	Flanking Active TSS	GM12878-XiMat	blood
21	chr4:75023000-75023600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr4:75023000-75023600	Flanking Active TSS	NH-A	brain
23	chr4:75023000-75023800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:75023000-75024400	Active TSS	Fetal Brain Female	brain
25	chr4:75023000-75024600	Active TSS	Stomach Mucosa	stomach
26	chr4:75023000-75024800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:75023000-75024800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:75023000-75024800	Active TSS	Colonic Mucosa	Colon
29	chr4:75023000-75025000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr4:75023000-75025000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:75023000-75025000	Active TSS	Fetal Muscle Trunk	muscle
32	chr4:75023000-75025000	Active TSS	Fetal Stomach	stomach
33	chr4:75023000-75025000	Active TSS	HepG2	liver
34	chr4:75023000-75025200	Active TSS	H1 Cell Line	embryonic stem cell
35	chr4:75023000-75025200	Active TSS	Thymus	Thymus
36	chr4:75023000-75025800	Active TSS	A549	lung
37	chr4:75023200-75023600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr4:75023200-75023600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr4:75023200-75023600	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr4:75023200-75023600	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr4:75023200-75023600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr4:75023200-75023600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr4:75023200-75023600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr4:75023200-75023600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr4:75023200-75023600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr4:75023200-75023600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr4:75023200-75023600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr4:75023200-75023600	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr4:75023200-75023600	Flanking Active TSS	Placenta	Placenta
50	chr4:75023200-75023600	Flanking Active TSS	Fetal Thymus	thymus

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