Variant report

Variant	rs537289193
Chromosome Location	chr4:75023092-75023093
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	FOS	chr4:75022848-75023827	HUVEC	blood vessel:	n/a	n/a
2	MXI1	chr4:75023021-75023940	K562	blood:	n/a	n/a
3	POLR2A	chr4:75022946-75024297	K562	blood:	n/a	n/a
4	POLR2A	chr4:75022991-75025136	PBDE	blood:	n/a	n/a
5	EP300	chr4:75022852-75023944	K562	blood:	n/a	n/a
6	REST	chr4:75022921-75024668	H1-neurons	neurons:	n/a	chr4:75023676-75023696 chr4:75024016-75024026 chr4:75023771-75023784 chr4:75023682-75023696 chr4:75023645-75023658
7	HCFC1	chr4:75022751-75025210	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr4:75022866-75024826	GM12891	blood:	n/a	n/a
9	POLR2A	chr4:75023016-75024310	K562	blood:	n/a	n/a
10	POLR2A	chr4:75022970-75024262	K562	blood:	n/a	n/a
11	POLR2A	chr4:75022683-75024237	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr4:75022682-75025406	HUVEC	blood vessel:	n/a	n/a
13	BRCA1	chr4:75023014-75025411	Hela-S3	cervix:	n/a	n/a
14	BHLHE40	chr4:75023054-75024314	K562	blood:	n/a	chr4:75023644-75023660 chr4:75024010-75024026 chr4:75024026-75024042 chr4:75024005-75024021
15	BHLHE40	chr4:75023059-75024321	HepG2	liver:	n/a	chr4:75023644-75023660 chr4:75024010-75024026 chr4:75024026-75024042 chr4:75024005-75024021
16	JUND	chr4:75022940-75024381	K562	blood:	n/a	n/a
17	TAL1	chr4:75022705-75023993	K562	blood:	n/a	n/a
18	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
19	POLR2A	chr4:75023048-75024297	PFSK-1	brain:	n/a	n/a
20	TBP	chr4:75022978-75024283	K562	blood:	n/a	n/a
21	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
22	UBTF	chr4:75023046-75024481	K562	blood:	n/a	n/a
23	POLR2A	chr4:75022864-75024326	H1-hESC	embryonic stem cell:	n/a	n/a
24	MXI1	chr4:75022950-75024809	IMR90	lung:	n/a	chr4:75024300-75024309
25	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
26	POLR2A	chr4:75022387-75025140	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr4:75023068-75024210	U87	brain:	n/a	n/a
28	POLR2A	chr4:75022733-75023313	HUVEC	blood vessel:	n/a	n/a
29	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
30	RELA	chr4:75023014-75024279	GM19099	blood:	n/a	n/a
31	SMC3	chr4:75022995-75024006	Hela-S3	cervix:	n/a	chr4:75023648-75023658
32	POLR2A	chr4:75022256-75036597	K562	blood:	n/a	n/a
33	TEAD4	chr4:75022918-75023996	K562	blood:	n/a	n/a
34	POLR2A	chr4:75023072-75024431	HepG2	liver:	n/a	n/a
35	GTF2F1	chr4:75022999-75023894	Hela-S3	cervix:	n/a	n/a
36	USF2	chr4:75023023-75023762	Hela-S3	cervix:	n/a	chr4:75023644-75023660
37	STAT3	chr4:75023047-75023192	MCF10A-Er-Src	breast:	n/a	n/a
38	CBX3	chr4:75022965-75023975	K562	blood:	n/a	n/a
39	TCF12	chr4:75022936-75024163	A549	lung:	n/a	n/a
40	POLR2A	chr4:75022956-75024361	K562	blood:	n/a	n/a
41	CUX1	chr4:75023040-75023794	K562	blood:	n/a	n/a
42	POLR2A	chr4:75022369-75024468	IMR90	lung:	n/a	n/a
43	POLR2A	chr4:75022898-75023219	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr4:75022956-75024355	K562	blood:	n/a	n/a
45	MAZ	chr4:75022982-75024564	K562	blood:	n/a	chr4:75024298-75024309 chr4:75024298-75024308 chr4:75024299-75024309 chr4:75024297-75024310 chr4:75024299-75024306 chr4:75024295-75024310 chr4:75024300-75024309 chr4:75024297-75024310 chr4:75024297-75024312 chr4:75024299-75024308 chr4:75024298-75024309 chr4:75024298-75024307 chr4:75024298-75024309
46	POLR2A	chr4:75022967-75024545	K562	blood:	n/a	n/a
47	MYC	chr4:75022967-75024509	MCF10A-Er-Src	breast:	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
48	KAP1	chr4:75023044-75023856	U2OS	brain:	n/a	chr4:75023527-75023535
49	PML	chr4:75022957-75024035	K562	blood:	n/a	chr4:75023527-75023535
50	POLR2A	chr4:75023063-75024707	Raji	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:74964506..74967065-chr4:75022087..75025561,3	K562	blood:
2	chr4:74122515..74124717-chr4:75023066..75024638,2	K562	blood:
3	chr4:75022872..75025434-chr4:75174456..75176612,2	MCF-7	breast:
4	chr4:75022222..75023752-chr4:75142957..75145413,2	K562	blood:
5	chr4:75021911..75023462-chr4:75229589..75232447,2	K562	blood:
6	chr4:75000738..75003533-chr4:75021528..75023491,2	K562	blood:
7	chr4:75001823..75003533-chr4:75021528..75023480,2	K562	blood:
8	chr4:75023013..75023782-chr6:27100367..27100877,2	Hela-S3	cervix:
9	chr4:74964506..74968474-chr4:75022087..75025768,6	K562	blood:

Variant related genes	Relation type
MTHFD2L	TF binding region
ENSG00000182585	Chromatin interaction
ENSG00000132466	Chromatin interaction
ENSG00000081041	Chromatin interaction
ENSG00000124882	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000196787	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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75013200-75023200	Weak transcription	Psoas Muscle	Psoas
2	chr4:75022600-75023600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:75022600-75023600	Flanking Active TSS	HUVEC	blood vessel
4	chr4:75022600-75023600	Flanking Active TSS	NHEK	skin
5	chr4:75022600-75023600	Flanking Active TSS	NHLF	lung
6	chr4:75022600-75025000	Active TSS	K562	blood
7	chr4:75022800-75023200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:75022800-75023200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:75022800-75023200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr4:75022800-75023200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:75022800-75023200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:75022800-75023200	Active TSS	Primary B cells from cord blood	blood
13	chr4:75022800-75023200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:75022800-75023200	Enhancers	Adipose Nuclei	Adipose
15	chr4:75022800-75023200	Flanking Active TSS	Fetal Intestine Small	intestine
16	chr4:75022800-75023200	Enhancers	Fetal Lung	lung
17	chr4:75022800-75023400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr4:75022800-75023400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr4:75022800-75023400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr4:75022800-75023400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:75022800-75023400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:75022800-75023400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:75022800-75023400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr4:75022800-75023400	Flanking Active TSS	Fetal Heart	heart
25	chr4:75022800-75023400	Flanking Active TSS	Fetal Kidney	kidney
26	chr4:75022800-75023400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr4:75022800-75023400	Flanking Active TSS	Hela-S3	cervix
28	chr4:75022800-75023400	Flanking Active TSS	NHDF-Ad	bronchial
29	chr4:75022800-75023400	Flanking Active TSS	Osteobl	bone
30	chr4:75022800-75023600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr4:75022800-75023600	Flanking Active TSS	HMEC	breast
32	chr4:75022800-75023800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr4:75022800-75023800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:75022800-75024600	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr4:75022800-75025200	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr4:75022800-75025200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:75022800-75025400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:75023000-75023200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:75023000-75023200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:75023000-75023200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:75023000-75023200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:75023000-75023200	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr4:75023000-75023200	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr4:75023000-75023200	Enhancers	Primary B cells from peripheral blood	blood
45	chr4:75023000-75023200	Active TSS	Primary T cells from cord blood	blood
46	chr4:75023000-75023200	Enhancers	Primary T cells fromperipheralblood	blood
47	chr4:75023000-75023200	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr4:75023000-75023200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr4:75023000-75023200	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr4:75023000-75023200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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