Variant report

Variant	rs73348194
Chromosome Location	chr5:177554462-177554463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:99)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:99 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr5:177554324-177555287	K562	blood:	n/a	n/a
2	YY1	chr5:177554262-177554646	K562	blood:	n/a	n/a
3	TEAD4	chr5:177554260-177554877	K562	blood:	n/a	n/a
4	EP300	chr5:177553589-177554941	K562	blood:	n/a	n/a
5	TEAD4	chr5:177554079-177554942	K562	blood:	n/a	n/a
6	TAL1	chr5:177553639-177554906	K562	blood:	n/a	n/a
7	MAFF	chr5:177554318-177554766	K562	blood:	n/a	n/a
8	IRF1	chr5:177554418-177554851	K562	blood:	n/a	n/a
9	SPI1	chr5:177554123-177554574	HL-60	blood:	n/a	chr5:177554359-177554372 chr5:177554362-177554369
10	MYC	chr5:177554427-177554857	K562	blood:	n/a	n/a
11	POLR2A	chr5:177554205-177554671	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr5:177554356-177554788	K562	blood:	n/a	n/a
13	POLR2A	chr5:177554283-177554723	H1-hESC	embryonic stem cell:	n/a	n/a
14	GATA1	chr5:177553457-177554900	K562	blood:	n/a	n/a
15	STAT5A	chr5:177554395-177554913	K562	blood:	n/a	n/a
16	GTF2F1	chr5:177554408-177554695	K562	blood:	n/a	n/a
17	ATF1	chr5:177554392-177554852	K562	blood:	n/a	n/a
18	ZMIZ1	chr5:177554349-177554859	K562	blood:	n/a	n/a
19	SPI1	chr5:177554218-177554465	GM12878	blood:	n/a	chr5:177554359-177554372 chr5:177554362-177554369
20	MAX	chr5:177554205-177554823	K562	blood:	n/a	n/a
21	ELF1	chr5:177554195-177554828	K562	blood:	n/a	n/a
22	ZNF143	chr5:177554427-177554779	K562	blood:	n/a	n/a
23	CHD2	chr5:177554226-177554806	K562	blood:	n/a	n/a
24	MAX	chr5:177554373-177554786	K562	blood:	n/a	n/a
25	POLR2A	chr5:177554440-177554539	GM12878	blood:	n/a	n/a
26	TBP	chr5:177554239-177554796	K562	blood:	n/a	n/a
27	RCOR1	chr5:177554378-177554933	K562	blood:	n/a	n/a
28	ETS1	chr5:177554392-177554750	K562	blood:	n/a	chr5:177554475-177554488 chr5:177554478-177554485
29	E2F6	chr5:177554394-177554628	K562	blood:	n/a	n/a
30	CBX3	chr5:177554436-177554819	K562	blood:	n/a	n/a
31	GATA1	chr5:177554239-177555239	PBDE	blood:	n/a	n/a
32	GATA2	chr5:177554367-177554926	K562	blood:	n/a	n/a
33	MXI1	chr5:177553886-177554852	K562	blood:	n/a	n/a
34	JUN	chr5:177553438-177554910	K562	blood:	n/a	n/a
35	GATA2	chr5:177554429-177554849	K562	blood:	n/a	n/a
36	CEBPB	chr5:177554403-177554957	K562	blood:	n/a	n/a
37	CUX1	chr5:177553639-177554755	K562	blood:	n/a	n/a
38	PML	chr5:177554351-177554859	K562	blood:	n/a	n/a
39	RFX5	chr5:177554173-177554729	K562	blood:	n/a	n/a
40	JUND	chr5:177553392-177554719	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr5:177554222-177554909	K562	blood:	n/a	n/a
42	NR2F2	chr5:177554315-177554852	K562	blood:	n/a	n/a
43	YY1	chr5:177554372-177554609	K562	blood:	n/a	n/a
44	MYC	chr5:177554398-177554852	K562	blood:	n/a	n/a
45	GABPA	chr5:177554401-177554880	K562	blood:	n/a	n/a
46	GATA1	chr5:177554410-177554816	K562	blood:	n/a	n/a
47	HMGN3	chr5:177554361-177554792	K562	blood:	n/a	n/a
48	CHD2	chr5:177553502-177554725	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr5:177554172-177554816	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr5:177554243-177554775	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:177553443..177555738-chr5:177578539..177581012,2	K562	blood:
2	chr5:177553523..177556160-chr5:177631991..177633550,2	K562	blood:
3	chr5:177554438..177556086-chr5:177561391..177563807,2	K562	blood:
4	chr5:177551974..177555394-chr5:177629147..177631755,4	K562	blood:

No data

Variant related genes	Relation type
RMND5B	TF binding region
ENSG00000145912	Chromatin interaction
ENSG00000197451	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]
rs73348192	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:62 , 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	chr5:177551600-177557200	Weak transcription	Right Ventricle	heart
20	chr5:177551800-177554800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr5:177551800-177556400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr5:177551800-177557000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr5:177551800-177557200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr5:177551800-177557400	Weak transcription	Spleen	Spleen
25	chr5:177552000-177554800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr5:177552000-177557000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr5:177552000-177557200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr5:177552000-177557400	Weak transcription	Stomach Mucosa	stomach
29	chr5:177552400-177555200	Weak transcription	Lung	lung
30	chr5:177552600-177556800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:177552800-177556800	Weak transcription	Fetal Stomach	stomach
32	chr5:177552800-177557400	Weak transcription	Esophagus	oesophagus
33	chr5:177553400-177554600	Enhancers	HUVEC	blood vessel
34	chr5:177553400-177555400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:177553600-177554600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:177553600-177554600	Flanking Active TSS	K562	blood
37	chr5:177553600-177554800	Genic enhancers	Fetal Muscle Leg	muscle
38	chr5:177553600-177555200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr5:177553800-177554600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:177553800-177554600	Enhancers	Left Ventricle	heart
41	chr5:177553800-177554800	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr5:177553800-177554800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr5:177554000-177554800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr5:177554000-177554800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr5:177554000-177555200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr5:177554000-177555200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr5:177554000-177557200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:177554200-177554600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr5:177554200-177554600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr5:177554200-177554600	Genic enhancers	Placenta	Placenta

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