Variant report

Variant	rs73117116
Chromosome Location	chr5:73980911-73980912
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	POLR2A	chr5:73980840-73981362	GM12878	blood:	n/a	n/a
2	HCFC1	chr5:73980816-73981356	K562	blood:	n/a	n/a
3	POLR2A	chr5:73980858-73981426	GM18526	blood:	n/a	n/a
4	JUND	chr5:73980726-73981419	MCF-7	breast:	n/a	chr5:73980983-73980994 chr5:73980983-73980995 chr5:73980985-73980994 chr5:73980984-73980994 chr5:73980984-73980993
5	ZMIZ1	chr5:73980876-73981249	K562	blood:	n/a	n/a
6	CREB1	chr5:73980712-73981422	HepG2	liver:	n/a	n/a
7	POLR2A	chr5:73980744-73981516	Gliobla	brain:	n/a	n/a
8	CTCF	chr5:73980722-73981535	H1-hESC	embryonic stem cell:	n/a	chr5:73980878-73980887
9	ELF1	chr5:73980828-73981201	HepG2	liver:	n/a	n/a
10	USF1	chr5:73980849-73981096	HepG2	liver:	n/a	chr5:73980946-73980962
11	PAX5	chr5:73980775-73981347	GM12892	blood:	n/a	chr5:73980959-73980968 chr5:73980996-73981005
12	YY1	chr5:73980847-73981354	K562	blood:	n/a	n/a
13	CTCF	chr5:73980780-73980930	GM12870	blood:	n/a	chr5:73980878-73980887
14	CTCF	chr5:73980880-73981030	BE2_C	brain:	n/a	n/a
15	CTCF	chr5:73980780-73980930	Caco-2	colon:	n/a	chr5:73980878-73980887
16	GABPA	chr5:73980705-73981214	K562	blood:	n/a	n/a
17	CTCF	chr5:73980780-73980930	SAEC	small airway:	n/a	chr5:73980878-73980887
18	CTCF	chr5:73980820-73980970	RPTEC	kidney:	n/a	chr5:73980878-73980887
19	ATF3	chr5:73980781-73981201	K562	blood:	n/a	chr5:73980955-73980964 chr5:73980961-73980970
20	MAX	chr5:73980747-73981741	H1-hESC	embryonic stem cell:	n/a	chr5:73981548-73981558
21	EP300	chr5:73980837-73981187	K562	blood:	n/a	n/a
22	POLR2A	chr5:73980897-73981200	HepG2	liver:	n/a	n/a
23	SMARCC1	chr5:73980778-73981930	Hela-S3	cervix:	n/a	chr5:73980984-73980993 chr5:73980985-73980994
24	TAF1	chr5:73980793-73981236	K562	blood:	n/a	n/a
25	USF1	chr5:73980764-73981158	A549	lung:	n/a	chr5:73980946-73980962
26	GTF2B	chr5:73980845-73981126	K562	blood:	n/a	n/a
27	POLR2A	chr5:73980888-73981232	GM12878	blood:	n/a	n/a
28	POLR2A	chr5:73980781-73981268	H1-hESC	embryonic stem cell:	n/a	n/a
29	HA-E2F1	chr5:73980682-73982106	MCF-7	breast:	n/a	chr5:73980934-73980944 chr5:73980955-73980964
30	EP300	chr5:73980761-73981185	T-47D	breast:	n/a	n/a
31	CCNT2	chr5:73980667-73982233	K562	blood:	n/a	chr5:73981418-73981427
32	CTCF	chr5:73980800-73980950	HBMEC	blood vessel:	n/a	chr5:73980878-73980887
33	POLR2A	chr5:73980694-73981398	U87	brain:	n/a	n/a
34	POLR2A	chr5:73980666-73981406	HUVEC	blood vessel:	n/a	n/a
35	BATF	chr5:73980897-73981260	GM12878	blood:	n/a	n/a
36	POLR2A	chr5:73980774-73981207	K562	blood:	n/a	n/a
37	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
38	RUNX3	chr5:73980722-73981348	GM12878	blood:	n/a	n/a
39	BHLHE40	chr5:73980819-73981379	K562	blood:	n/a	chr5:73980946-73980962
40	IRF1	chr5:73980821-73981242	K562	blood:	n/a	n/a
41	POLR2A	chr5:73980855-73981351	GM12878	blood:	n/a	n/a
42	CREB1	chr5:73980761-73981390	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAX	chr5:73980812-73982356	NB4	blood:	n/a	chr5:73981548-73981558
44	POLR2A	chr5:73980862-73983157	HepG2	liver:	n/a	n/a
45	POLR2A	chr5:73980700-73981427	SK-N-MC	brain:	n/a	n/a
46	MTA3	chr5:73980881-73982279	GM12878	blood:	n/a	n/a
47	CTCF	chr5:73980780-73980930	GM12872	blood:	n/a	chr5:73980878-73980887
48	TAF7	chr5:73980844-73981343	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr5:73980786-73981344	ECC-1	luminal epithelium:	n/a	n/a
50	YY1	chr5:73980814-73981171	HCT-116	colon:	n/a	n/a

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	chr5:73980885..73983030-chr5:74062980..74064496,2	MCF-7	breast:
5	chr5:73980002..73981869-chr5:74633426..74635131,2	K562	blood:
6	chr5:73978938..73982006-chr5:74061565..74064417,3	K562	blood:
7	chr5:73979743..73983565-chr5:73984545..73990071,12	K562	blood:
8	chr5:73979647..73982006-chr5:74061742..74064417,2	K562	blood:

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

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs60234715	1.00[AMR][1000 genomes]
rs73117107	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:73976200-73981000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:73980000-73981600	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr5:73980200-73981200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:73980200-73981600	Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr5:73980400-73981600	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr5:73980400-73981600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr5:73980400-73981600	Active TSS	A549	lung
8	chr5:73980400-73981800	Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr5:73980600-73981000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr5:73980600-73981000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr5:73980600-73981000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:73980600-73981000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:73980600-73981000	Flanking Active TSS	Fetal Muscle Trunk	muscle
14	chr5:73980600-73981000	Flanking Active TSS	Placenta	Placenta
15	chr5:73980600-73981000	Flanking Active TSS	Fetal Thymus	thymus
16	chr5:73980600-73981200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr5:73980600-73981200	Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr5:73980600-73981200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr5:73980600-73981200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr5:73980600-73981200	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr5:73980600-73981200	Active TSS	HepG2	liver
22	chr5:73980600-73981400	Active TSS	H1 Cell Line	embryonic stem cell
23	chr5:73980600-73981400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:73980600-73981400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:73980600-73981400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:73980600-73981400	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr5:73980600-73981400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:73980600-73981400	Active TSS	Primary monocytes fromperipheralblood	blood
29	chr5:73980600-73981400	Active TSS	Primary B cells from cord blood	blood
30	chr5:73980600-73981400	Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr5:73980600-73981400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:73980600-73981400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:73980600-73981400	Active TSS	Muscle Satellite Cultured Cells	--
34	chr5:73980600-73981400	Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr5:73980600-73981400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:73980600-73981400	Active TSS	Adipose Nuclei	Adipose
37	chr5:73980600-73981400	Active TSS	Liver	Liver
38	chr5:73980600-73981400	Active TSS	Brain Germinal Matrix	brain
39	chr5:73980600-73981400	Active TSS	Colonic Mucosa	Colon
40	chr5:73980600-73981400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr5:73980600-73981400	Active TSS	Fetal Brain Female	brain
42	chr5:73980600-73981400	Active TSS	Fetal Stomach	stomach
43	chr5:73980600-73981400	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr5:73980600-73981400	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr5:73980600-73981600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:73980600-73981600	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr5:73980600-73981600	Active TSS	Primary T cells from cord blood	blood
48	chr5:73980600-73981600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr5:73980600-73981600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr5:73980600-73981600	Active TSS	Brain Anterior Caudate	brain

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