Variant report

Variant	rs368985492
Chromosome Location	chr4:75023259-75023260
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	BCLAF1	chr4:75023212-75023918	K562	blood:	n/a	n/a
3	FOS	chr4:75022848-75023827	HUVEC	blood vessel:	n/a	n/a
4	MXI1	chr4:75023021-75023940	K562	blood:	n/a	n/a
5	POLR2A	chr4:75022946-75024297	K562	blood:	n/a	n/a
6	POLR2A	chr4:75022991-75025136	PBDE	blood:	n/a	n/a
7	EP300	chr4:75022852-75023944	K562	blood:	n/a	n/a
8	REST	chr4:75022921-75024668	H1-neurons	neurons:	n/a	chr4:75023676-75023696 chr4:75024016-75024026 chr4:75023771-75023784 chr4:75023682-75023696 chr4:75023645-75023658
9	HCFC1	chr4:75022751-75025210	Hela-S3	cervix:	n/a	n/a
10	NFIC	chr4:75023237-75024109	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr4:75022866-75024826	GM12891	blood:	n/a	n/a
12	POLR2A	chr4:75023016-75024310	K562	blood:	n/a	n/a
13	POLR2A	chr4:75022970-75024262	K562	blood:	n/a	n/a
14	NFIC	chr4:75023189-75023941	HepG2	liver:	n/a	n/a
15	POLR2A	chr4:75022683-75024237	HUVEC	blood vessel:	n/a	n/a
16	MXI1	chr4:75023234-75024779	GM12878	blood:	n/a	chr4:75024300-75024309
17	RFX5	chr4:75023114-75024210	Hela-S3	cervix:	n/a	chr4:75023538-75023552 chr4:75023540-75023555 chr4:75023540-75023555
18	POLR2A	chr4:75022682-75025406	HUVEC	blood vessel:	n/a	n/a
19	GABPA	chr4:75023214-75024033	MCF-7	breast:	n/a	chr4:75024010-75024019 chr4:75023646-75023655
20	BRCA1	chr4:75023014-75025411	Hela-S3	cervix:	n/a	n/a
21	TEAD4	chr4:75023251-75023961	ECC-1	luminal epithelium:	n/a	n/a
22	MAX	chr4:75023170-75024613	A549	lung:	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
23	YY1	chr4:75023169-75024358	SK-N-SH	brain:	n/a	chr4:75023644-75023658 chr4:75024007-75024021 chr4:75023570-75023584 chr4:75024006-75024020 chr4:75023646-75023655 chr4:75024151-75024165 chr4:75024016-75024030
24	BHLHE40	chr4:75023054-75024314	K562	blood:	n/a	chr4:75023644-75023660 chr4:75024010-75024026 chr4:75024026-75024042 chr4:75024005-75024021
25	EP300	chr4:75023158-75023929	GM12878	blood:	n/a	n/a
26	BHLHE40	chr4:75023059-75024321	HepG2	liver:	n/a	chr4:75023644-75023660 chr4:75024010-75024026 chr4:75024026-75024042 chr4:75024005-75024021
27	JUND	chr4:75022940-75024381	K562	blood:	n/a	n/a
28	TAL1	chr4:75022705-75023993	K562	blood:	n/a	n/a
29	MAX	chr4:75023161-75025049	Hela-S3	cervix:	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
30	MYC	chr4:75023067-75024413	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
31	POLR2A	chr4:75023048-75024297	PFSK-1	brain:	n/a	n/a
32	TBP	chr4:75022978-75024283	K562	blood:	n/a	n/a
33	MYC	chr4:75022991-75024634	NB4	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
34	UBTF	chr4:75023046-75024481	K562	blood:	n/a	n/a
35	POLR2A	chr4:75022864-75024326	H1-hESC	embryonic stem cell:	n/a	n/a
36	MXI1	chr4:75022950-75024809	IMR90	lung:	n/a	chr4:75024300-75024309
37	POLR2A	chr4:75023115-75024281	Hela-S3	cervix:	n/a	n/a
38	MYC	chr4:75022815-75024980	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
39	POLR2A	chr4:75022387-75025140	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr4:75023068-75024210	U87	brain:	n/a	n/a
41	TBP	chr4:75023182-75023994	HepG2	liver:	n/a	n/a
42	POLR2A	chr4:75022733-75023313	HUVEC	blood vessel:	n/a	n/a
43	MAX	chr4:75023259-75024540	A549	lung:	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
44	MTA3	chr4:75023117-75024384	GM12878	blood:	n/a	n/a
45	MYC	chr4:75022849-75024737	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
46	STAT5A	chr4:75023114-75024016	K562	blood:	n/a	n/a
47	RELA	chr4:75023014-75024279	GM19099	blood:	n/a	n/a
48	STAT5A	chr4:75023246-75023618	GM12878	blood:	n/a	n/a
49	TAF1	chr4:75023230-75024027	A549	lung:	n/a	n/a
50	REST	chr4:75023238-75024382	HL-60	blood:	n/a	chr4:75023676-75023696 chr4:75024016-75024026 chr4:75023771-75023784 chr4:75023682-75023696 chr4:75023645-75023658

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:75023219-75023269	NHBE	bronchial:	n/a
2	chr4:75023219-75023269	ProgFib	skin:	n/a
3	chr4:75023219-75023269	SK-N-SH_RA	brain:	n/a
4	chr4:75023219-75023269	HCF	heart:	n/a
5	chr4:75023219-75023269	SK-N-SH	brain:	n/a
6	chr4:75023219-75023269	PANC-1	pancreas:	n/a
7	chr4:75023219-75023269	Caco-2	colon:	n/a
8	chr4:75023219-75023269	HCT-116	colon:	n/a
9	chr4:75023219-75023269	Hela-S3	cervix:	n/a
10	chr4:75023219-75023269	H1-hESC	embryonic stem cell:	embryo
11	chr4:75023219-75023269	RPTEC	kidney:	n/a
12	chr4:75023219-75023269	HPAEpiC	pulmonary alveolar:	n/a
13	chr4:75023219-75023269	HNPCEpiC	eye:	n/a
14	chr4:75023219-75023269	IMR90	lung:	fetal
15	chr4:75023219-75023269	HRCEpiC	kidney:	n/a
16	chr4:75023219-75023269	HMEC	breast:	n/a
17	chr4:75023219-75023269	HIPEpiC	eye:	n/a
18	chr4:75023219-75023269	HepG2	liver:	n/a
19	chr4:75023219-75023269	AG04449	skin:	fetal
20	chr4:75023219-75023269	PrEC	prostate:	n/a
21	chr4:75023219-75023269	HUVEC	blood vessel:	n/a
22	chr4:75023219-75023269	T-47D	breast:	n/a
23	chr4:75023219-75023269	NB4	blood:	n/a
24	chr4:75023219-75023269	SK-N-MC	brain:	n/a
25	chr4:75023219-75023269	GM06990	blood:	n/a
26	chr4:75023219-75023269	HL-60	blood:	n/a
27	chr4:75023219-75023269	SKMC	muscle:	n/a
28	chr4:75023219-75023269	MCF10A-Er-Src	breast:	n/a
29	chr4:75023219-75023269	Hepatocyte	liver:	n/a
30	chr4:75023219-75023269	AG09319	gingival:	n/a
31	chr4:75023219-75023269	PFSK-1	brain:	n/a
32	chr4:75023219-75023269	NT2-D1	testis:	n/a
33	chr4:75023219-75023269	NHDF-neo	bronchial:	n/a
34	chr4:75023219-75023269	A549	lung:	n/a
35	chr4:75023219-75023269	HEK293	kidney:	embryo
36	chr4:75023219-75023269	ECC-1	luminal epithelium:	n/a
37	chr4:75023219-75023269	AG04450	lung:	fetal
38	chr4:75023219-75023269	HCPEpiC	choroid plexus:	n/a
39	chr4:75023219-75023269	HRE	kidney:	n/a
40	chr4:75023219-75023269	K562	blood:	n/a
41	chr4:75023219-75023269	AG10803	skin:	n/a
42	chr4:75023219-75023269	BJ	skin:	n/a
43	chr4:75023219-75023269	GM12892	blood:	n/a
44	chr4:75023219-75023269	HCM	heart:	n/a
45	chr4:75023219-75023269	HEEpiC	esophagus:	n/a
46	chr4:75023219-75023269	MCF-7	breast:	n/a
47	chr4:75023219-75023269	HAEpiC	amniotic membrane:	n/a
48	chr4:75023219-75023269	GM12891	blood:	n/a
49	chr4:75023219-75023269	GM19239	blood:	n/a
50	chr4:75023219-75023269	SAEC	small airway:	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	chr4:75022872..75025434-chr4:75174456..75176612,2	MCF-7	breast:
5	chr4:75022222..75023752-chr4:75142957..75145413,2	K562	blood:
6	chr4:75021911..75023462-chr4:75229589..75232447,2	K562	blood:
7	chr4:75000738..75003533-chr4:75021528..75023491,2	K562	blood:
8	chr4:75001823..75003533-chr4:75021528..75023480,2	K562	blood:
9	chr4:75023013..75023782-chr6:27100367..27100877,2	Hela-S3	cervix:
10	chr4:74964506..74968474-chr4:75022087..75025768,6	K562	blood:

Variant related genes	Relation type
MTHFD2L	TF binding region
MTHFD2L	CpG island
ENSG00000165905	Chromatin interaction
ENSG00000081041	Chromatin interaction
ENSG00000132466	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000124882	Chromatin interaction
ENSG00000182585	Chromatin interaction
ENSG00000124635	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:119 , 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	chr4:75022800-75023400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr4:75022800-75023400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr4:75022800-75023400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr4:75022800-75023400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:75022800-75023400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:75022800-75023400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:75022800-75023400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr4:75022800-75023400	Flanking Active TSS	Fetal Heart	heart
14	chr4:75022800-75023400	Flanking Active TSS	Fetal Kidney	kidney
15	chr4:75022800-75023400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr4:75022800-75023400	Flanking Active TSS	Hela-S3	cervix
17	chr4:75022800-75023400	Flanking Active TSS	NHDF-Ad	bronchial
18	chr4:75022800-75023400	Flanking Active TSS	Osteobl	bone
19	chr4:75022800-75023600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr4:75022800-75023600	Flanking Active TSS	HMEC	breast
21	chr4:75022800-75023800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr4:75022800-75023800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:75022800-75024600	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr4:75022800-75025200	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr4:75022800-75025200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:75022800-75025400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:75023000-75023400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
28	chr4:75023000-75023400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr4:75023000-75023400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr4:75023000-75023400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:75023000-75023400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr4:75023000-75023400	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr4:75023000-75023400	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr4:75023000-75023400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr4:75023000-75023400	Flanking Active TSS	Colon Smooth Muscle	Colon
36	chr4:75023000-75023400	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr4:75023000-75023400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr4:75023000-75023400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr4:75023000-75023400	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr4:75023000-75023400	Enhancers	Gastric	stomach
41	chr4:75023000-75023400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr4:75023000-75023400	Enhancers	Spleen	Spleen
43	chr4:75023000-75023400	Flanking Active TSS	HSMM	muscle
44	chr4:75023000-75023400	Flanking Active TSS	HSMMtube	muscle
45	chr4:75023000-75023600	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr4:75023000-75023600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr4:75023000-75023600	Flanking Active TSS	Liver	Liver
48	chr4:75023000-75023600	Flanking Active TSS	Brain Germinal Matrix	brain
49	chr4:75023000-75023600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr4:75023000-75023600	Flanking Active TSS	Dnd41	blood

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