Variant report

Variant	rs73348192
Chromosome Location	chr5:177553951-177553952
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr5:177553589-177554941	K562	blood:	n/a	n/a
2	MAFF	chr5:177553657-177554014	K562	blood:	n/a	n/a
3	TAL1	chr5:177553639-177554906	K562	blood:	n/a	n/a
4	ZNF143	chr5:177553673-177553977	K562	blood:	n/a	n/a
5	POLR2A	chr5:177553399-177554059	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr5:177553486-177553985	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZNF384	chr5:177553681-177554014	K562	blood:	n/a	n/a
8	GATA1	chr5:177553457-177554900	K562	blood:	n/a	n/a
9	MAX	chr5:177553506-177553993	K562	blood:	n/a	n/a
10	RCOR1	chr5:177553646-177554057	K562	blood:	n/a	n/a
11	CBX3	chr5:177553583-177554115	K562	blood:	n/a	n/a
12	SIN3A	chr5:177553505-177554119	H1-hESC	embryonic stem cell:	n/a	n/a
13	ARID3A	chr5:177553627-177554045	K562	blood:	n/a	n/a
14	CCNT2	chr5:177553700-177553986	K562	blood:	n/a	n/a
15	MXI1	chr5:177553886-177554852	K562	blood:	n/a	n/a
16	JUN	chr5:177553438-177554910	K562	blood:	n/a	n/a
17	TEAD4	chr5:177553473-177553957	H1-hESC	embryonic stem cell:	n/a	n/a
18	YY1	chr5:177553467-177554001	H1-hESC	embryonic stem cell:	n/a	n/a
19	CUX1	chr5:177553639-177554755	K562	blood:	n/a	n/a
20	JUND	chr5:177553515-177553959	H1-hESC	embryonic stem cell:	n/a	n/a
21	JUND	chr5:177553392-177554719	H1-hESC	embryonic stem cell:	n/a	n/a
22	RCOR1	chr5:177553611-177554005	K562	blood:	n/a	n/a
23	MAZ	chr5:177553481-177554020	K562	blood:	n/a	n/a
24	MXI1	chr5:177553683-177554385	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr5:177553502-177554725	H1-hESC	embryonic stem cell:	n/a	n/a
26	E2F6	chr5:177553379-177553989	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAFK	chr5:177553685-177554797	K562	blood:	n/a	chr5:177554360-177554375
28	POU5F1	chr5:177553632-177554045	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAFK	chr5:177553568-177554328	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr5:177553499-177553981	H1-hESC	embryonic stem cell:	n/a	n/a
31	MYC	chr5:177553762-177553977	K562	blood:	n/a	n/a
32	GATA2	chr5:177553543-177553990	K562	blood:	n/a	n/a
33	POLR2A	chr5:177553273-177554885	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD1	chr5:177553457-177554520	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr5:177553396-177554116	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr5:177553447-177554051	H1-hESC	embryonic stem cell:	n/a	n/a
37	EP300	chr5:177553407-177554059	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr5:177553383-177554085	H1-hESC	embryonic stem cell:	n/a	n/a
39	MYC	chr5:177553659-177553965	K562	blood:	n/a	n/a
40	POLR2A	chr5:177553541-177554291	HUVEC	blood vessel:	n/a	n/a
41	TBL1XR1	chr5:177553701-177554819	K562	blood:	n/a	n/a
42	TBL1XR1	chr5:177553594-177554935	K562	blood:	n/a	n/a
43	CREB1	chr5:177553426-177554047	H1-hESC	embryonic stem cell:	n/a	n/a
44	RAD21	chr5:177553676-177554061	H1-hESC	embryonic stem cell:	n/a	n/a
45	SP4	chr5:177553363-177554149	H1-hESC	embryonic stem cell:	n/a	n/a
46	IRF1	chr5:177553604-177554888	K562	blood:	n/a	chr5:177554364-177554373
47	POLR2A	chr5:177553553-177553987	K562	blood:	n/a	n/a
48	TAF1	chr5:177553419-177554041	H1-hESC	embryonic stem cell:	n/a	n/a
49	BHLHE40	chr5:177553579-177554010	K562	blood:	n/a	n/a
50	SP1	chr5:177553394-177554093	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:177553443..177555738-chr5:177578539..177581012,2	K562	blood:
2	chr5:177389362..177391423-chr5:177551819..177554278,2	MCF-7	breast:
3	chr5:177553523..177556160-chr5:177631991..177633550,2	K562	blood:
4	chr5:177551780..177554441-chr5:177630455..177633730,4	MCF-7	breast:
5	chr5:177551974..177555394-chr5:177629147..177631755,4	K562	blood:

No data

Variant related genes	Relation type
RMND5B	TF binding region
ENSG00000197451	Chromatin interaction
ENSG00000145912	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11951603	1.00[AMR][1000 genomes]
rs57559233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57947175	1.00[AMR][1000 genomes]
rs59922179	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60772567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61577981	1.00[AMR][1000 genomes]
rs73338853	1.00[AMR][1000 genomes]
rs73348139	1.00[AMR][1000 genomes]
rs73348150	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348160	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348162	0.87[AFR][1000 genomes]
rs73348167	0.87[AFR][1000 genomes]
rs73348177	1.00[AMR][1000 genomes]
rs73348182	1.00[AMR][1000 genomes]
rs73348185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348199	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73349806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73349889	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73351244	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030383	chr5:177310325-177571254	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
3	nsv1021198	chr5:177386267-177611648	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
5	nsv462567	chr5:177505021-177572927	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv471058	chr5:177505021-177572927	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv600392	chr5:177505021-177572927	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
9	nsv883190	chr5:177532201-177620189	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	nsv883192	chr5:177535370-177564346	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv600394	chr5:177549491-177608195	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177541800-177557200	Weak transcription	Right Atrium	heart
2	chr5:177548600-177557000	Weak transcription	Fetal Intestine Large	intestine
3	chr5:177548800-177557000	Weak transcription	Fetal Intestine Small	intestine
4	chr5:177548800-177557200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr5:177549400-177554800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:177549400-177557200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr5:177549400-177558200	Weak transcription	Fetal Heart	heart
8	chr5:177549600-177557000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:177549600-177557200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr5:177549600-177557400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:177550200-177554600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr5:177550200-177557000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:177550400-177556400	Weak transcription	GM12878-XiMat	blood
14	chr5:177550400-177557200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr5:177550600-177557200	Weak transcription	Psoas Muscle	Psoas
16	chr5:177550800-177556800	Weak transcription	Primary B cells from cord blood	blood
17	chr5:177551400-177556800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr5:177551400-177557400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr5:177551600-177554200	Weak transcription	NHEK	skin
20	chr5:177551600-177557200	Weak transcription	Right Ventricle	heart
21	chr5:177551800-177554400	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr5:177551800-177554800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:177551800-177556400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr5:177551800-177557000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:177551800-177557200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr5:177551800-177557400	Weak transcription	Spleen	Spleen
27	chr5:177552000-177554800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr5:177552000-177557000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr5:177552000-177557200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr5:177552000-177557400	Weak transcription	Stomach Mucosa	stomach
31	chr5:177552400-177555200	Weak transcription	Lung	lung
32	chr5:177552600-177554000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr5:177552600-177556800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:177552800-177554000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr5:177552800-177554000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr5:177552800-177554200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr5:177552800-177554200	Weak transcription	Placenta	Placenta
38	chr5:177552800-177556800	Weak transcription	Fetal Stomach	stomach
39	chr5:177552800-177557400	Weak transcription	Esophagus	oesophagus
40	chr5:177553000-177554200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:177553200-177554200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:177553400-177554000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:177553400-177554200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr5:177553400-177554400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:177553400-177554600	Enhancers	HUVEC	blood vessel
46	chr5:177553400-177555400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:177553600-177554000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr5:177553600-177554400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:177553600-177554400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:177553600-177554400	Strong transcription	Fetal Muscle Trunk	muscle

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