Variant report

Variant	rs73348199
Chromosome Location	chr5:177554748-177554749
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:78)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:78 , 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	TEAD4	chr5:177554260-177554877	K562	blood:	n/a	n/a
3	EP300	chr5:177553589-177554941	K562	blood:	n/a	n/a
4	TEAD4	chr5:177554079-177554942	K562	blood:	n/a	n/a
5	TAL1	chr5:177553639-177554906	K562	blood:	n/a	n/a
6	MAFF	chr5:177554318-177554766	K562	blood:	n/a	n/a
7	IRF1	chr5:177554418-177554851	K562	blood:	n/a	n/a
8	MYC	chr5:177554427-177554857	K562	blood:	n/a	n/a
9	POLR2A	chr5:177554356-177554788	K562	blood:	n/a	n/a
10	GATA1	chr5:177553457-177554900	K562	blood:	n/a	n/a
11	STAT5A	chr5:177554395-177554913	K562	blood:	n/a	n/a
12	ATF1	chr5:177554392-177554852	K562	blood:	n/a	n/a
13	ZMIZ1	chr5:177554349-177554859	K562	blood:	n/a	n/a
14	MAX	chr5:177554205-177554823	K562	blood:	n/a	n/a
15	ELF1	chr5:177554195-177554828	K562	blood:	n/a	n/a
16	ZNF143	chr5:177554427-177554779	K562	blood:	n/a	n/a
17	CHD2	chr5:177554226-177554806	K562	blood:	n/a	n/a
18	MAX	chr5:177554373-177554786	K562	blood:	n/a	n/a
19	TBP	chr5:177554239-177554796	K562	blood:	n/a	n/a
20	CEBPB	chr5:177554558-177554950	K562	blood:	n/a	n/a
21	RCOR1	chr5:177554378-177554933	K562	blood:	n/a	n/a
22	ETS1	chr5:177554392-177554750	K562	blood:	n/a	chr5:177554475-177554488 chr5:177554478-177554485
23	CBX3	chr5:177554436-177554819	K562	blood:	n/a	n/a
24	GATA1	chr5:177554239-177555239	PBDE	blood:	n/a	n/a
25	GATA2	chr5:177554367-177554926	K562	blood:	n/a	n/a
26	MXI1	chr5:177553886-177554852	K562	blood:	n/a	n/a
27	JUN	chr5:177553438-177554910	K562	blood:	n/a	n/a
28	GATA2	chr5:177554429-177554849	K562	blood:	n/a	n/a
29	CEBPB	chr5:177554403-177554957	K562	blood:	n/a	n/a
30	CUX1	chr5:177553639-177554755	K562	blood:	n/a	n/a
31	PML	chr5:177554351-177554859	K562	blood:	n/a	n/a
32	POLR2A	chr5:177554222-177554909	K562	blood:	n/a	n/a
33	NR2F2	chr5:177554315-177554852	K562	blood:	n/a	n/a
34	MYC	chr5:177554398-177554852	K562	blood:	n/a	n/a
35	GABPA	chr5:177554401-177554880	K562	blood:	n/a	n/a
36	GATA1	chr5:177554410-177554816	K562	blood:	n/a	n/a
37	HMGN3	chr5:177554361-177554792	K562	blood:	n/a	n/a
38	POLR2A	chr5:177554172-177554816	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr5:177554243-177554775	GM12878	blood:	n/a	n/a
40	CEBPD	chr5:177554369-177554948	K562	blood:	n/a	n/a
41	MAFK	chr5:177553685-177554797	K562	blood:	n/a	chr5:177554360-177554375
42	EGR1	chr5:177554399-177554818	K562	blood:	n/a	n/a
43	MAZ	chr5:177554279-177554830	K562	blood:	n/a	n/a
44	HCFC1	chr5:177554242-177554828	K562	blood:	n/a	n/a
45	POLR2A	chr5:177553273-177554885	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAX	chr5:177554349-177554853	K562	blood:	n/a	n/a
47	GATA2	chr5:177554439-177554881	K562	blood:	n/a	n/a
48	POLR2A	chr5:177554195-177554853	K562	blood:	n/a	n/a
49	POLR2A	chr5:177554345-177554778	K562	blood:	n/a	n/a
50	CCNT2	chr5:177554314-177554830	K562	blood:	n/a	n/a

No data

(count:6 , 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	chr5:177554586..177557949-chr5:177561501..177564806,6	K562	blood:
4	chr5:177554438..177556086-chr5:177561391..177563807,2	K562	blood:
5	chr5:177554701..177556246-chr5:177557931..177559545,2	K562	blood:
6	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
ENSG00000145916	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11951603	1.00[AMR][1000 genomes]
rs57559233	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57947175	1.00[AMR][1000 genomes]
rs59922179	1.00[AMR][1000 genomes]
rs60772567	0.84[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	1.00[AMR][1000 genomes]
rs73348160	1.00[AMR][1000 genomes]
rs73348177	1.00[AMR][1000 genomes]
rs73348182	1.00[AMR][1000 genomes]
rs73348185	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348192	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348194	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73349806	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73349889	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	chr5:177550200-177557000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:177550400-177556400	Weak transcription	GM12878-XiMat	blood
13	chr5:177550400-177557200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr5:177550600-177557200	Weak transcription	Psoas Muscle	Psoas
15	chr5:177550800-177556800	Weak transcription	Primary B cells from cord blood	blood
16	chr5:177551400-177556800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr5:177551400-177557400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr5:177551600-177557200	Weak transcription	Right Ventricle	heart
19	chr5:177551800-177554800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr5:177551800-177556400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr5:177551800-177557000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr5:177551800-177557200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr5:177551800-177557400	Weak transcription	Spleen	Spleen
24	chr5:177552000-177554800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:177552000-177557000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr5:177552000-177557200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr5:177552000-177557400	Weak transcription	Stomach Mucosa	stomach
28	chr5:177552400-177555200	Weak transcription	Lung	lung
29	chr5:177552600-177556800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:177552800-177556800	Weak transcription	Fetal Stomach	stomach
31	chr5:177552800-177557400	Weak transcription	Esophagus	oesophagus
32	chr5:177553400-177555400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:177553600-177554800	Genic enhancers	Fetal Muscle Leg	muscle
34	chr5:177553600-177555200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr5:177553800-177554800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr5:177553800-177554800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr5:177554000-177554800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr5:177554000-177554800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr5:177554000-177555200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr5:177554000-177555200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:177554000-177557200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:177554200-177554800	Enhancers	H9 Cell Line	embryonic stem cell
43	chr5:177554200-177554800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:177554200-177554800	Enhancers	NHEK	skin
45	chr5:177554200-177557200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:177554400-177554800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr5:177554400-177555400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr5:177554400-177556600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr5:177554400-177556800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:177554400-177557000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links