Variant report

Variant	rs183423809
Chromosome Location	chr19:18527231-18527232
allele	C/T
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	MAX	chr19:18527098-18529165	MCF-7	breast:	n/a	chr19:18527972-18527979 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696
2	POLR2A	chr19:18527106-18528760	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr19:18527049-18529017	K562	blood:	n/a	n/a
4	REST	chr19:18527196-18527499	A549	lung:	n/a	n/a
5	CREB1	chr19:18526983-18528154	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr19:18525610-18530298	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr19:18527095-18528938	K562	blood:	n/a	n/a
8	MAX	chr19:18526925-18531451	K562	blood:	n/a	chr19:18527972-18527979 chr19:18529211-18529221 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696 chr19:18529634-18529643
9	POLR2A	chr19:18527025-18528787	HCT-116	colon:	n/a	n/a
10	MAX	chr19:18526998-18529277	A549	lung:	n/a	chr19:18527972-18527979 chr19:18529211-18529221 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696
11	USF2	chr19:18527129-18527424	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr19:18527064-18528665	SK-N-MC	brain:	n/a	n/a
13	ATF2	chr19:18527039-18527516	H1-hESC	embryonic stem cell:	n/a	n/a
14	YY1	chr19:18527146-18528026	K562	blood:	n/a	n/a
15	POLR2A	chr19:18526995-18528898	HUVEC	blood vessel:	n/a	n/a
16	MYC	chr19:18527228-18527303	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr19:18527063-18527612	K562	blood:	n/a	n/a
18	ARID3A	chr19:18527122-18528092	K562	blood:	n/a	n/a
19	SIN3A	chr19:18527191-18528608	H1-hESC	embryonic stem cell:	n/a	chr19:18528334-18528347
20	MYC	chr19:18527031-18531008	K562	blood:	n/a	chr19:18527972-18527979 chr19:18529211-18529221 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696 chr19:18529634-18529643
21	POLR2A	chr19:18527226-18528921	U87	brain:	n/a	n/a
22	GTF2F1	chr19:18527142-18528469	K562	blood:	n/a	n/a
23	RFX5	chr19:18527229-18527564	H1-hESC	embryonic stem cell:	n/a	n/a
24	SMARCC1	chr19:18527164-18528528	Hela-S3	cervix:	n/a	n/a
25	CBX3	chr19:18526951-18529116	K562	blood:	n/a	n/a
26	EP300	chr19:18527187-18527545	H1-hESC	embryonic stem cell:	n/a	n/a
27	MYC	chr19:18527071-18528215	K562	blood:	n/a	chr19:18527972-18527979 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980
28	USF1	chr19:18527115-18527455	ECC-1	luminal epithelium:	n/a	n/a
29	REST	chr19:18527086-18527444	K562	blood:	n/a	n/a
30	POLR2A	chr19:18527066-18529321	HL-60	blood:	n/a	n/a
31	POLR2A	chr19:18527039-18528371	K562	blood:	n/a	n/a
32	CHD2	chr19:18527176-18528519	H1-hESC	embryonic stem cell:	n/a	n/a
33	RCOR1	chr19:18527107-18528681	K562	blood:	n/a	n/a
34	GTF2F1	chr19:18527201-18527409	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr19:18527111-18531151	Hela-S3	cervix:	n/a	n/a
36	EP300	chr19:18527133-18528159	K562	blood:	n/a	chr19:18527976-18527989 chr19:18527817-18527833 chr19:18527702-18527718
37	EGR1	chr19:18527189-18528144	K562	blood:	n/a	chr19:18527657-18527670
38	MAX	chr19:18527096-18528624	Hela-S3	cervix:	n/a	chr19:18527972-18527979 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980
39	ELK1	chr19:18527215-18527850	K562	blood:	n/a	n/a
40	CHD2	chr19:18527164-18528669	K562	blood:	n/a	n/a
41	MYC	chr19:18527097-18529134	NB4	blood:	n/a	chr19:18527972-18527979 chr19:18527789-18527798 chr19:18527971-18527980 chr19:18527971-18527980 chr19:18528686-18528696
42	HEY1	chr19:18527005-18527896	K562	blood:	n/a	n/a
43	MTA3	chr19:18526999-18529265	GM12878	blood:	n/a	n/a
44	MXI1	chr19:18527110-18527428	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr19:18525346-18530410	K562	blood:	n/a	n/a
46	ELF1	chr19:18527045-18528869	GM12878	blood:	n/a	chr19:18528477-18528489 chr19:18528483-18528495 chr19:18528533-18528546
47	POLR2A	chr19:18527123-18527372	HepG2	liver:	n/a	n/a
48	YY1	chr19:18527127-18527557	K562	blood:	n/a	n/a
49	POLR2A	chr19:18527113-18527305	Hela-S3	cervix:	n/a	n/a
50	MXI1	chr19:18527026-18529441	SK-N-SH	brain:	n/a	chr19:18527789-18527804

No.	Distal block	Cell Line	Cell type
1	chr19:18385043..18394940-chr19:18518893..18533267,53	K562	blood:
2	chr11:133446628..133447627-chr19:18526800..18527688,2	HCT-116	colon:
3	chr19:18333703..18336599-chr19:18524425..18529905,5	K562	blood:
4	chr19:18515749..18518459-chr19:18525942..18528660,2	K562	blood:
5	chr19:18520199..18523408-chr19:18523976..18531789,10	MCF-7	breast:
6	chr19:18496334..18499990-chr19:18526862..18529675,5	MCF-7	breast:
7	chr19:18495547..18503463-chr19:18525062..18531964,43	K562	blood:
8	chr19:18496287..18498156-chr19:18525962..18527694,2	MCF-7	breast:
9	chr19:18333200..18334741-chr19:18526229..18528340,2	K562	blood:
10	chr19:18521178..18523940-chr19:18526171..18529152,3	MCF-7	breast:
11	chr19:18265654..18267596-chr19:18526831..18528675,2	K562	blood:
12	chr19:18399894..18406849-chr19:18524216..18528146,7	K562	blood:
13	chr19:18508054..18515743-chr19:18523957..18529414,9	K562	blood:
14	chr19:18448952..18453435-chr19:18523841..18530143,7	K562	blood:
15	chr19:18424650..18427071-chr19:18525382..18527314,2	K562	blood:
16	chr19:18388809..18393836-chr19:18524501..18532718,14	MCF-7	breast:
17	chr19:18383371..18384902-chr19:18527058..18529406,2	K562	blood:
18	chr19:18338900..18340811-chr19:18525374..18527248,2	K562	blood:
19	chr19:18474455..18476591-chr19:18526226..18528576,3	K562	blood:
20	chr19:18383365..18408325-chr19:18518460..18533256,66	K562	blood:
21	chr1:225117290..225118037-chr19:18526807..18527782,2	Hela-S3	cervix:
22	chr19:18526729..18529360-chr19:19028525..19030689,2	MCF-7	breast:
23	chr19:18391038..18394210-chr19:18525828..18530797,8	MCF-7	breast:
24	chr19:18526882..18530762-chr19:18548138..18550714,4	MCF-7	breast:
25	chr19:18334858..18337739-chr19:18526520..18530329,6	K562	blood:
26	chr19:18472311..18474156-chr19:18526952..18528977,3	K562	blood:
27	chr19:18312986..18316928-chr19:18526182..18529449,5	K562	blood:

Variant related genes	Relation type
SSBP4	TF binding region
ENSG00000130520	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000105650	Chromatin interaction
ENSG00000185842	Chromatin interaction
ENSG00000268650	Chromatin interaction
ENSG00000105647	Chromatin interaction
ENSG00000105649	Chromatin interaction
ENSG00000241464	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000105671	Chromatin interaction
ENSG00000175489	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000221167	Chromatin interaction
ENSG00000105669	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000130518	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	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
3	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
4	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
9	nsv911276	chr19:18497141-18554972	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
10	nsv911277	chr19:18520231-18552139	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	nsv1060687	chr19:18522527-18643218	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
12	nsv911278	chr19:18526536-18550276	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18521600-18527400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:18524800-18527400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr19:18524800-18527600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr19:18524800-18527800	Flanking Active TSS	K562	blood
5	chr19:18524800-18528000	Enhancers	Primary hematopoietic stem cells	blood
6	chr19:18525000-18527400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:18525000-18527400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
8	chr19:18525000-18527400	Enhancers	Stomach Mucosa	stomach
9	chr19:18525000-18527600	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr19:18525000-18527800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr19:18525000-18528000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr19:18525000-18528000	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr19:18525000-18529600	Enhancers	Liver	Liver
14	chr19:18525000-18529600	Enhancers	Spleen	Spleen
15	chr19:18525200-18527400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr19:18525200-18527400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr19:18525200-18527400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr19:18525200-18527400	Enhancers	HMEC	breast
19	chr19:18525200-18527400	Enhancers	NH-A	brain
20	chr19:18525200-18528000	Enhancers	Brain Angular Gyrus	brain
21	chr19:18525200-18529600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr19:18525400-18527400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr19:18525400-18527400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr19:18525400-18527400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr19:18525400-18527800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:18525400-18528000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr19:18525400-18528000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr19:18525400-18529600	Enhancers	Lung	lung
29	chr19:18525600-18527400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:18525600-18527400	Enhancers	Primary B cells from cord blood	blood
31	chr19:18525600-18527400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr19:18525600-18527600	Enhancers	Esophagus	oesophagus
33	chr19:18525800-18527400	Enhancers	A549	lung
34	chr19:18526000-18527400	Enhancers	Placenta Amnion	Placenta Amnion
35	chr19:18526000-18527600	Weak transcription	Gastric	stomach
36	chr19:18526200-18527400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:18526200-18528400	Flanking Active TSS	Fetal Lung	lung
38	chr19:18526400-18527400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:18526400-18527400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr19:18526400-18527400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr19:18526400-18527400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
42	chr19:18526400-18527400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
43	chr19:18526400-18527400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
44	chr19:18526400-18527400	Enhancers	Fetal Intestine Large	intestine
45	chr19:18526400-18527400	Enhancers	Right Ventricle	heart
46	chr19:18526400-18527400	Bivalent Enhancer	Thymus	Thymus
47	chr19:18526400-18527400	Enhancers	HepG2	liver
48	chr19:18526400-18527400	Enhancers	NHEK	skin
49	chr19:18526400-18527600	Enhancers	Left Ventricle	heart
50	chr19:18526400-18528000	Enhancers	Pancreas	Pancrea

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