Variant report

Variant	rs72854849
Chromosome Location	chr4:75024986-75024987
allele	A/G
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	TBP	chr4:75024247-75025231	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr4:75024594-75025215	IMR90	lung:	n/a	chr4:75025015-75025028 chr4:75024638-75024649
3	CEBPB	chr4:75024190-75025213	Hela-S3	cervix:	n/a	chr4:75025015-75025028 chr4:75024638-75024649
4	POLR2A	chr4:75022991-75025136	PBDE	blood:	n/a	n/a
5	POLR2A	chr4:75024838-75024987	Hela-S3	cervix:	n/a	n/a
6	E2F4	chr4:75024804-75025138	MCF10A-Er-Src	breast:	n/a	n/a
7	HCFC1	chr4:75022751-75025210	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr4:75022682-75025406	HUVEC	blood vessel:	n/a	n/a
9	BRCA1	chr4:75023014-75025411	Hela-S3	cervix:	n/a	n/a
10	EP300	chr4:75024882-75025313	K562	blood:	n/a	n/a
11	FOS	chr4:75024856-75025190	MCF10A-Er-Src	breast:	n/a	n/a
12	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
13	CEBPB	chr4:75024889-75025181	A549	lung:	n/a	chr4:75025015-75025028
14	POLR2A	chr4:75022387-75025140	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr4:75022256-75036597	K562	blood:	n/a	n/a
16	MYC	chr4:75024187-75025141	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
17	POLR2A	chr4:75023466-75025153	GM12878	blood:	n/a	n/a
18	RFX5	chr4:75024777-75025072	K562	blood:	n/a	chr4:75024832-75024848
19	POLR2A	chr4:75024868-75025068	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr4:75024856-75025166	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr4:75024867-75025193	MCF10A-Er-Src	breast:	n/a	n/a
22	ZNF143	chr4:75024980-75025076	GM12878	blood:	n/a	n/a
23	CEBPB	chr4:75024883-75025161	K562	blood:	n/a	chr4:75025015-75025028
24	POLR2A	chr4:75022788-75025384	Hela-S3	cervix:	n/a	n/a
25	MYC	chr4:75024773-75025190	MCF10A-Er-Src	breast:	n/a	n/a
26	CEBPB	chr4:75024866-75025205	HepG2	liver:	n/a	chr4:75025015-75025028
27	FOS	chr4:75024843-75025188	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:74964506..74967065-chr4:75022087..75025561,3	K562	blood:
2	chr4:75023332..75025369-chr4:75145514..75147366,2	MCF-7	breast:
3	chr4:75022872..75025434-chr4:75174456..75176612,2	MCF-7	breast:
4	chr4:74920487..74923421-chr4:75023614..75026198,3	K562	blood:
5	chr4:75024505..75027399-chr4:75144223..75145811,2	K562	blood:
6	chr4:74528064..74529636-chr4:75024964..75026974,2	K562	blood:
7	chr4:75024456..75026319-chr4:75184021..75186282,2	K562	blood:
8	chr4:75024221..75026156-chr4:75163622..75165985,2	K562	blood:
9	chr4:74964506..74968474-chr4:75022087..75025768,6	K562	blood:

Variant related genes	Relation type
ENSG00000269559	TF binding region
ENSG00000163738	Chromatin interaction
ENSG00000248848	Chromatin interaction
ENSG00000081041	Chromatin interaction
ENSG00000182585	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs58759445	1.00[AMR][1000 genomes]
rs72854804	1.00[AMR][1000 genomes]
rs72854815	1.00[AMR][1000 genomes]
rs72854826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75022600-75025000	Active TSS	K562	blood
2	chr4:75022800-75025200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr4:75022800-75025200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:75022800-75025400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:75023000-75025000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr4:75023000-75025000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:75023000-75025000	Active TSS	Fetal Muscle Trunk	muscle
8	chr4:75023000-75025000	Active TSS	Fetal Stomach	stomach
9	chr4:75023000-75025000	Active TSS	HepG2	liver
10	chr4:75023000-75025200	Active TSS	H1 Cell Line	embryonic stem cell
11	chr4:75023000-75025200	Active TSS	Thymus	Thymus
12	chr4:75023000-75025800	Active TSS	A549	lung
13	chr4:75023200-75025000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:75023200-75025000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:75023200-75025000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:75023200-75025200	Active TSS	Aorta	Aorta
17	chr4:75023200-75025200	Active TSS	Fetal Intestine Large	intestine
18	chr4:75023200-75025200	Active TSS	Fetal Intestine Small	intestine
19	chr4:75023200-75025400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:75023200-75025400	Active TSS	Psoas Muscle	Psoas
21	chr4:75023200-75025400	Active TSS	Right Ventricle	heart
22	chr4:75023400-75025000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:75023400-75025000	Active TSS	Duodenum Mucosa	Duodenum
24	chr4:75023400-75025000	Active TSS	Fetal Muscle Leg	muscle
25	chr4:75023400-75025200	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr4:75023400-75025200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr4:75023400-75025200	Active TSS	Fetal Kidney	kidney
28	chr4:75023400-75025200	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr4:75023400-75025400	Active TSS	H9 Cell Line	embryonic stem cell
30	chr4:75023400-75025400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:75023400-75025400	Active TSS	HSMMtube	muscle
32	chr4:75023400-75025800	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr4:75023400-75025800	Active TSS	Hela-S3	cervix
34	chr4:75023600-75025000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:75023600-75025000	Active TSS	Fetal Thymus	thymus
36	chr4:75023600-75025000	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr4:75023600-75025000	Active TSS	NHLF	lung
38	chr4:75023600-75025200	Active TSS	Stomach Smooth Muscle	stomach
39	chr4:75023600-75025400	Active TSS	Brain Germinal Matrix	brain
40	chr4:75023800-75025400	Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr4:75024000-75025200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:75024200-75025000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr4:75024200-75025000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr4:75024200-75025200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr4:75024200-75025400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr4:75024200-75025400	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr4:75024200-75025400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr4:75024200-75025400	Active TSS	Right Atrium	heart
49	chr4:75024200-75025800	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr4:75024200-75025800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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