Variant report

Variant	rs376339146
Chromosome Location	chr5:73980739-73980740
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	JUND	chr5:73980726-73981419	MCF-7	breast:	n/a	chr5:73980983-73980994 chr5:73980983-73980995 chr5:73980985-73980994 chr5:73980984-73980994 chr5:73980984-73980993
2	CREB1	chr5:73980712-73981422	HepG2	liver:	n/a	n/a
3	CTCF	chr5:73980720-73980870	GM12865	blood:	n/a	n/a
4	CTCF	chr5:73980722-73981535	H1-hESC	embryonic stem cell:	n/a	chr5:73980878-73980887
5	GABPA	chr5:73980705-73981214	K562	blood:	n/a	n/a
6	HA-E2F1	chr5:73980682-73982106	MCF-7	breast:	n/a	chr5:73980934-73980944 chr5:73980955-73980964
7	CCNT2	chr5:73980667-73982233	K562	blood:	n/a	chr5:73981418-73981427
8	POLR2A	chr5:73980694-73981398	U87	brain:	n/a	n/a
9	POLR2A	chr5:73980666-73981406	HUVEC	blood vessel:	n/a	n/a
10	FOSL2	chr5:73980708-73981332	SK-N-SH	brain:	n/a	chr5:73980983-73980995 chr5:73980985-73980994 chr5:73980984-73980995 chr5:73980984-73980994 chr5:73980984-73980993
11	RUNX3	chr5:73980722-73981348	GM12878	blood:	n/a	n/a
12	POLR2A	chr5:73980700-73981427	SK-N-MC	brain:	n/a	n/a
13	SP1	chr5:73980687-73981295	A549	lung:	n/a	chr5:73980954-73980966 chr5:73980955-73980964 chr5:73980954-73980966
14	POLR2A	chr5:73980685-73981344	A549	lung:	n/a	n/a
15	MYBL2	chr5:73980697-73981246	HepG2	liver:	n/a	n/a
16	JUND	chr5:73980697-73981465	SK-N-SH	brain:	n/a	chr5:73980983-73980994 chr5:73980983-73980995 chr5:73980985-73980994 chr5:73980984-73980994 chr5:73980984-73980993
17	POLR2A	chr5:73980695-73981523	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr5:73980292-73982327	K562	blood:	n/a	n/a
19	JUND	chr5:73980710-73981325	SK-N-SH	brain:	n/a	chr5:73980983-73980994 chr5:73980983-73980995 chr5:73980985-73980994 chr5:73980984-73980994 chr5:73980984-73980993
20	POLR2A	chr5:73980663-73982435	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr5:73980688-73981462	U87	brain:	n/a	n/a
22	HDAC2	chr5:73980735-73981546	HepG2	liver:	n/a	n/a
23	POLR2A	chr5:73980716-73981288	HCT-116	colon:	n/a	n/a
24	MAX	chr5:73980697-73981723	A549	lung:	n/a	chr5:73981548-73981558
25	POLR2A	chr5:73980706-73981653	Hela-S3	cervix:	n/a	n/a
26	SIN3AK20	chr5:73980654-73981511	MCF-7	breast:	n/a	n/a
27	RAD21	chr5:73980637-73981553	H1-hESC	embryonic stem cell:	n/a	chr5:73980931-73980944
28	POLR2A	chr5:73980691-73981264	H1-hESC	embryonic stem cell:	n/a	n/a
29	SMARCB1	chr5:73980307-73982245	Hela-S3	cervix:	n/a	chr5:73980984-73980993 chr5:73980985-73980994
30	CTCF	chr5:73980719-73981030	K562	blood:	n/a	chr5:73980878-73980887
31	MXI1	chr5:73980632-73982205	IMR90	lung:	n/a	n/a
32	POLR2A	chr5:73980718-73981570	MCF-7	breast:	n/a	n/a
33	POLR2A	chr5:73980728-73981474	HepG2	liver:	n/a	n/a
34	CTCF	chr5:73980700-73980850	A549	lung:	n/a	n/a
35	POLR2A	chr5:73980691-73981269	K562	blood:	n/a	n/a
36	MAX	chr5:73980710-73981615	ECC-1	luminal epithelium:	n/a	chr5:73981548-73981558
37	E2F6	chr5:73980690-73981261	A549	lung:	n/a	chr5:73981022-73981033 chr5:73980934-73980944 chr5:73980955-73980964
38	YY1	chr5:73980693-73981602	K562	blood:	n/a	chr5:73981418-73981429
39	MAX	chr5:73980714-73981728	MCF-7	breast:	n/a	chr5:73981548-73981558
40	FOSL2	chr5:73980736-73981279	HepG2	liver:	n/a	chr5:73980983-73980995 chr5:73980985-73980994 chr5:73980984-73980995 chr5:73980984-73980994 chr5:73980984-73980993
41	RCOR1	chr5:73980711-73981235	K562	blood:	n/a	n/a
42	RFX5	chr5:73980734-73981275	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr5:73980677-73982217	K562	blood:	n/a	n/a
44	FOSL2	chr5:73980658-73981372	A549	lung:	n/a	chr5:73980983-73980995 chr5:73980985-73980994 chr5:73980984-73980995 chr5:73980984-73980994 chr5:73980984-73980993
45	POLR2A	chr5:73980737-73981424	A549	lung:	n/a	n/a
46	JUND	chr5:73980720-73981214	A549	lung:	n/a	chr5:73980983-73980994 chr5:73980983-73980995 chr5:73980985-73980994 chr5:73980984-73980994 chr5:73980984-73980993
47	RAD21	chr5:73980729-73981056	SK-N-SH_RA	brain:	n/a	chr5:73980931-73980944
48	EGR1	chr5:73980738-73981150	K562	blood:	n/a	chr5:73980950-73980963
49	FOSL2	chr5:73980727-73981226	MCF-7	breast:	n/a	chr5:73980983-73980995 chr5:73980985-73980994 chr5:73980984-73980995 chr5:73980984-73980994 chr5:73980984-73980993
50	MAZ	chr5:73980614-73982533	IMR90	lung:	n/a	chr5:73981548-73981558

No.	Distal block	Cell Line	Cell type
1	chr5:73979598..73982392-chr5:73983812..73990818,9	MCF-7	breast:
2	chr5:73979909..73982593-chr5:73987219..73990536,5	MCF-7	breast:
3	chr5:72857771..72859719-chr5:73979974..73981658,2	K562	blood:
4	chr5:73980002..73981869-chr5:74633426..74635131,2	K562	blood:
5	chr5:73978938..73982006-chr5:74061565..74064417,3	K562	blood:
6	chr5:73979743..73983565-chr5:73984545..73990071,12	K562	blood:
7	chr5:73979647..73982006-chr5:74061742..74064417,2	K562	blood:

Variant related genes	Relation type
HEXB	TF binding region
ENSG00000049860	Chromatin interaction
ENSG00000164347	Chromatin interaction
ENSG00000113161	Chromatin interaction
ENSG00000164331	Chromatin interaction
ENSG00000164346	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13844	chr5:73979961-73993853	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
2	nsv598652	chr5:73980182-73992881	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:73969800-73980800	Weak transcription	NHLF	lung
2	chr5:73976200-73981000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:73977400-73980800	Weak transcription	HSMMtube	muscle
4	chr5:73979000-73980800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:73979000-73980800	Weak transcription	NH-A	brain
6	chr5:73979200-73980800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:73980000-73981600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr5:73980200-73980800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr5:73980200-73981200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:73980200-73981600	Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr5:73980400-73980800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:73980400-73980800	Weak transcription	Spleen	Spleen
13	chr5:73980400-73981600	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr5:73980400-73981600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr5:73980400-73981600	Active TSS	A549	lung
16	chr5:73980400-73981800	Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr5:73980600-73980800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr5:73980600-73980800	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr5:73980600-73980800	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr5:73980600-73980800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:73980600-73980800	Enhancers	Esophagus	oesophagus
22	chr5:73980600-73980800	Flanking Active TSS	Fetal Intestine Large	intestine
23	chr5:73980600-73980800	Flanking Active TSS	Fetal Intestine Small	intestine
24	chr5:73980600-73980800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
25	chr5:73980600-73980800	Active TSS	Dnd41	blood
26	chr5:73980600-73981000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr5:73980600-73981000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr5:73980600-73981000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:73980600-73981000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:73980600-73981000	Flanking Active TSS	Fetal Muscle Trunk	muscle
31	chr5:73980600-73981000	Flanking Active TSS	Placenta	Placenta
32	chr5:73980600-73981000	Flanking Active TSS	Fetal Thymus	thymus
33	chr5:73980600-73981200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr5:73980600-73981200	Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr5:73980600-73981200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr5:73980600-73981200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:73980600-73981200	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr5:73980600-73981200	Active TSS	HepG2	liver
39	chr5:73980600-73981400	Active TSS	H1 Cell Line	embryonic stem cell
40	chr5:73980600-73981400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:73980600-73981400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:73980600-73981400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:73980600-73981400	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr5:73980600-73981400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr5:73980600-73981400	Active TSS	Primary monocytes fromperipheralblood	blood
46	chr5:73980600-73981400	Active TSS	Primary B cells from cord blood	blood
47	chr5:73980600-73981400	Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr5:73980600-73981400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:73980600-73981400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr5:73980600-73981400	Active TSS	Muscle Satellite Cultured Cells	--

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