Variant report

Variant	rs574386915
Chromosome Location	chr5:177557356-177557357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:177557295-177558393	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr5:177557315-177559003	GM12891	blood:	n/a	n/a
3	RCOR1	chr5:177557284-177558807	K562	blood:	n/a	n/a
4	POLR2A	chr5:177557246-177558921	SK-N-MC	brain:	n/a	n/a
5	TAF1	chr5:177557263-177558617	H1-hESC	embryonic stem cell:	n/a	n/a
6	GATA3	chr5:177557355-177558372	MCF-7	breast:	n/a	n/a
7	POLR2A	chr5:177557180-177559198	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr5:177557260-177558064	U87	brain:	n/a	n/a
9	SIN3AK20	chr5:177557328-177558563	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr5:177557264-177558400	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr5:177557339-177558456	PANC-1	pancreas:	n/a	n/a
12	WRNIP1	chr5:177557318-177557506	GM12878	blood:	n/a	n/a
13	POLR2A	chr5:177557343-177558251	U87	brain:	n/a	n/a
14	POLR2A	chr5:177557020-177558886	K562	blood:	n/a	n/a
15	SIN3AK20	chr5:177557225-177559208	MCF-7	breast:	n/a	n/a
16	POLR2A	chr5:177557331-177558592	GM12891	blood:	n/a	n/a
17	ZNF384	chr5:177557300-177558801	K562	blood:	n/a	n/a
18	POLR2A	chr5:177557130-177558682	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr5:177557314-177558543	H1-hESC	embryonic stem cell:	n/a	n/a
20	POU2F2	chr5:177557245-177558614	GM12878	blood:	n/a	n/a
21	MAX	chr5:177557337-177558478	A549	lung:	n/a	n/a
22	POLR2A	chr5:177557177-177559086	H1-hESC	embryonic stem cell:	n/a	n/a
23	SREBP1	chr5:177557297-177558337	GM12878	blood:	n/a	n/a
24	JUND	chr5:177557292-177558502	MCF-7	breast:	n/a	chr5:177557720-177557729
25	NR2F2	chr5:177557271-177557569	K562	blood:	n/a	n/a
26	SP1	chr5:177557348-177558217	A549	lung:	n/a	chr5:177557965-177557977
27	POLR2A	chr5:177557234-177558948	GM12878	blood:	n/a	n/a
28	POLR2A	chr5:177557306-177559027	GM12878	blood:	n/a	n/a
29	TCF12	chr5:177557345-177558561	A549	lung:	n/a	chr5:177558084-177558091
30	POLR2A	chr5:177557333-177558991	GM12891	blood:	n/a	n/a
31	HEY1	chr5:177557293-177558591	K562	blood:	n/a	n/a
32	GABPA	chr5:177557330-177559016	MCF-7	breast:	n/a	chr5:177558126-177558135
33	SIN3AK20	chr5:177557349-177559043	MCF-7	breast:	n/a	n/a
34	POLR2A	chr5:177557254-177558514	MCF-7	breast:	n/a	n/a
35	POLR2A	chr5:177557313-177558995	GM12891	blood:	n/a	n/a
36	POLR2A	chr5:177557326-177558527	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr5:177557019-177558510	HepG2	liver:	n/a	n/a
38	POLR2A	chr5:177557233-177559129	GM12892	blood:	n/a	n/a
39	POLR2A	chr5:177557243-177558552	PFSK-1	brain:	n/a	n/a
40	CTCF	chr5:177557300-177557450	HCM	heart:	n/a	n/a
41	TAF1	chr5:177557351-177558244	A549	lung:	n/a	n/a
42	HA-E2F1	chr5:177557329-177558938	MCF-7	breast:	n/a	chr5:177557595-177557604
43	CBX3	chr5:177557309-177558084	K562	blood:	n/a	n/a
44	MXI1	chr5:177557123-177558973	SK-N-SH	brain:	n/a	n/a
45	MXI1	chr5:177557275-177558651	IMR90	lung:	n/a	n/a
46	POLR2A	chr5:177557054-177559340	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr5:177557193-177558611	PFSK-1	brain:	n/a	n/a
48	POLR2A	chr5:177557347-177558586	MCF-7	breast:	n/a	n/a
49	POLR2A	chr5:177557214-177559083	GM12892	blood:	n/a	n/a
50	SIX5	chr5:177557277-177558202	A549	lung:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:177556499..177561085-chr5:177629309..177633856,7	K562	blood:
2	chr11:62608645..62609556-chr5:177557343..177558256,2	NB4	blood:
3	chr5:177556214..177559808-chr5:177575521..177582645,10	K562	blood:
4	chr5:177556514..177559685-chr5:177630098..177633052,4	K562	blood:
5	chr5:177554586..177557949-chr5:177561501..177564806,6	K562	blood:
6	chr5:177556060..177559207-chr5:177571980..177574313,5	K562	blood:
7	chr1:28240140..28241106-chr5:177557176..177557955,2	Hela-S3	cervix:
8	chr5:177556060..177559089-chr5:177572421..177574313,3	K562	blood:
9	chr5:177556823..177560281-chr5:177564764..177567288,3	K562	blood:
10	chr5:177556550..177559096-chr5:177579482..177582645,4	K562	blood:
11	chr5:177555803..177560183-chr5:177628551..177633825,8	MCF-7	breast:

No data

Variant related genes	Relation type
RMND5B	TF binding region
ENSG00000145916	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000145912	Chromatin interaction
ENSG00000197451	Chromatin interaction
ENSG00000117748	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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
12	esv3424416	chr5:177556571-177559319	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177549400-177558200	Weak transcription	Fetal Heart	heart
2	chr5:177549600-177557400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:177551400-177557400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr5:177551800-177557400	Weak transcription	Spleen	Spleen
5	chr5:177552000-177557400	Weak transcription	Stomach Mucosa	stomach
6	chr5:177552800-177557400	Weak transcription	Esophagus	oesophagus
7	chr5:177554400-177557400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:177554600-177557400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:177554600-177557400	Weak transcription	Left Ventricle	heart
10	chr5:177554800-177557400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:177555800-177557400	Enhancers	Lung	lung
12	chr5:177556600-177557400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:177556600-177557400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:177556600-177557400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:177556800-177557400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:177556800-177557400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr5:177556800-177558600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:177556800-177559600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:177557000-177557400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:177557000-177557400	Enhancers	Primary B cells from peripheral blood	blood
21	chr5:177557000-177557400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:177557000-177557400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:177557000-177557400	Active TSS	Colonic Mucosa	Colon
24	chr5:177557000-177557800	Enhancers	Fetal Brain Male	brain
25	chr5:177557000-177558600	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr5:177557000-177558600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:177557000-177558600	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr5:177557000-177558600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:177557000-177558600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:177557000-177558600	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr5:177557000-177558600	Active TSS	Stomach Smooth Muscle	stomach
32	chr5:177557000-177558600	Bivalent/Poised TSS	HepG2	liver
33	chr5:177557000-177558800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:177557000-177559000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:177557200-177557400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr5:177557200-177557400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:177557200-177557400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr5:177557200-177557400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr5:177557200-177557400	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr5:177557200-177557400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr5:177557200-177557400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr5:177557200-177557400	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr5:177557200-177557400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr5:177557200-177557400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr5:177557200-177557400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:177557200-177557400	Enhancers	Liver	Liver
47	chr5:177557200-177557400	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr5:177557200-177557400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr5:177557200-177557400	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr5:177557200-177557400	Flanking Active TSS	Fetal Muscle Leg	muscle

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