Variant report

Variant	rs150598097
Chromosome Location	chr13:95365662-95365663
allele	C/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	chr13:95365484-95365781	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr13:95365513-95365826	Gliobla	brain:	n/a	n/a
3	SIN3A	chr13:95363903-95366238	H1-hESC	embryonic stem cell:	n/a	chr13:95364649-95364660 chr13:95364957-95364966
4	POLR2A	chr13:95365417-95365916	A549	lung:	n/a	n/a
5	POLR2A	chr13:95364848-95365727	PBDE	blood:	n/a	n/a
6	POLR2A	chr13:95365440-95365814	ECC-1	luminal epithelium:	n/a	n/a
7	MAX	chr13:95364535-95365769	ECC-1	luminal epithelium:	n/a	n/a
8	TBP	chr13:95364557-95366057	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr13:95364935-95365788	MCF-7	breast:	n/a	n/a
10	POLR2A	chr13:95365543-95365739	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr13:95365367-95365821	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD1	chr13:95364549-95365677	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr13:95363043-95366255	H1-hESC	embryonic stem cell:	n/a	chr13:95364328-95364338 chr13:95365842-95365852 chr13:95364441-95364451
14	POLR2A	chr13:95365037-95365800	A549	lung:	n/a	n/a
15	POLR2A	chr13:95365441-95365783	A549	lung:	n/a	n/a
16	KAP1	chr13:95364844-95365672	HEK293	kidney:	n/a	n/a
17	MAX	chr13:95363136-95365718	A549	lung:	n/a	chr13:95364328-95364338 chr13:95364441-95364451
18	ZNF263	chr13:95363302-95366442	HEK293-T-REx	kidney:	n/a	chr13:95365861-95365870 chr13:95364830-95364851 chr13:95365858-95365867 chr13:95364868-95364889 chr13:95364662-95364671 chr13:95365767-95365776
19	POLR2A	chr13:95365435-95365764	A549	lung:	n/a	n/a
20	POLR2A	chr13:95365014-95365770	A549	lung:	n/a	n/a
21	POLR2A	chr13:95365414-95365783	PANC-1	pancreas:	n/a	n/a
22	MAX	chr13:95364465-95365680	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTBP2	chr13:95363183-95366208	H1-hESC	embryonic stem cell:	n/a	n/a
24	TAF1	chr13:95365498-95365760	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr13:95365608-95365717	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95359884..95364398-chr13:95364758..95367708,4	MCF-7	breast:

Variant related genes	Relation type
SOX21	TF binding region
ENSG00000125285	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv832686	chr13:95206742-95400992	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv1813549	chr13:95333331-95377127	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1824604	chr13:95357807-95365771	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv826750	chr13:95358502-95368070	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1054343	chr13:95362727-95395486	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3446235	chr13:95362851-95366749	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv21011	chr13:95363104-95365838	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3442696	chr13:95363176-95365724	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv562763	chr13:95363617-95365719	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv1795447	chr13:95363617-95365771	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv1806096	chr13:95363617-95365771	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv1838082	chr13:95363617-95365771	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv562765	chr13:95363998-95365719	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv1795090	chr13:95363998-95365771	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv562766	chr13:95364375-95365771	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95358800-95366200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr13:95359000-95368000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:95359200-95366600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr13:95359600-95366000	Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr13:95359600-95366400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:95361800-95366000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr13:95362200-95366000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr13:95362400-95366200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr13:95362400-95366200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr13:95362400-95366600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
11	chr13:95362400-95366800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
12	chr13:95362600-95366200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr13:95362600-95366200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
14	chr13:95362600-95366400	Active TSS	Brain Substantia Nigra	brain
15	chr13:95362800-95365800	Bivalent Enhancer	Spleen	Spleen
16	chr13:95362800-95366000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr13:95362800-95366400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
18	chr13:95362800-95366800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr13:95363000-95365800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr13:95363000-95366200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr13:95363000-95366200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr13:95363000-95366400	Bivalent/Poised TSS	NHEK	skin
23	chr13:95363000-95366600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
24	chr13:95363200-95366200	Bivalent Enhancer	Placenta	Placenta
25	chr13:95363200-95366200	Bivalent/Poised TSS	Stomach Mucosa	stomach
26	chr13:95363400-95366000	Enhancers	Liver	Liver
27	chr13:95363400-95366400	Bivalent/Poised TSS	Fetal Brain Female	brain
28	chr13:95363600-95366200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr13:95363600-95367000	Active TSS	Brain Anterior Caudate	brain
30	chr13:95363600-95367800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr13:95363800-95365800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr13:95364000-95365800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
33	chr13:95364000-95365800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr13:95364000-95365800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr13:95364000-95365800	Bivalent Enhancer	Fetal Intestine Large	intestine
36	chr13:95364000-95365800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
37	chr13:95364000-95366000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr13:95364000-95366000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr13:95364000-95366000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr13:95364000-95366200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr13:95364200-95365800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
42	chr13:95364400-95366400	Bivalent Enhancer	Fetal Brain Male	brain
43	chr13:95364600-95365800	Active TSS	Right Atrium	heart
44	chr13:95364600-95366200	Active TSS	A549	lung
45	chr13:95364600-95366400	Active TSS	Gastric	stomach
46	chr13:95364800-95365800	Bivalent/Poised TSS	Osteobl	bone
47	chr13:95364800-95366200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr13:95364800-95366400	Active TSS	Esophagus	oesophagus
49	chr13:95365000-95365800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr13:95365000-95365800	Active TSS	Placenta Amnion	Placenta Amnion

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