Variant report

Variant	rs61754150
Chromosome Location	chr13:92002574-92002575
allele	A/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	MAZ	chr13:91998533-92004929	K562	blood:	n/a	chr13:91999821-91999831 chr13:91998551-91998561 chr13:92001061-92001071 chr13:92001123-92001132 chr13:92000750-92000759
2	POLR2A	chr13:92002174-92016245	K562	blood:	n/a	n/a
3	POLR2A	chr13:91998832-92013433	K562	blood:	n/a	n/a
4	SP1	chr13:92000403-92003851	K562	blood:	n/a	chr13:92001153-92001165 chr13:92001601-92001610 chr13:92001601-92001611 chr13:92001153-92001165 chr13:92000878-92000890 chr13:92001041-92001050 chr13:92001600-92001612 chr13:92001154-92001163 chr13:92001155-92001164 chr13:92001154-92001168 chr13:92000880-92000889 chr13:92000879-92000888 chr13:92001061-92001070 chr13:92001600-92001612 chr13:92000880-92000889 chr13:92001057-92001071 chr13:92001597-92001611 chr13:92000878-92000890
5	TBL1XR1	chr13:92000687-92005105	K562	blood:	n/a	n/a
6	POLR2A	chr13:92002566-92002753	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr13:91998968-92003731	K562	blood:	n/a	n/a
8	KAP1	chr13:92001184-92002636	U2OS	brain:	n/a	n/a
9	STAT3	chr13:92002532-92002623	MCF10A-Er-Src	breast:	n/a	n/a
10	BCL3	chr13:92002117-92014902	K562	blood:	n/a	chr13:92012067-92012074
11	CREB1	chr13:91998190-92005186	K562	blood:	n/a	n/a
12	POLR2A	chr13:92002152-92003727	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr13:92002363-92012257	A549	lung:	n/a	n/a
14	POLR2A	chr13:91999007-92004670	GM18951	blood:	n/a	n/a
15	MXI1	chr13:91998376-92005054	K562	blood:	n/a	n/a
16	TBL1XR1	chr13:91998914-92005070	K562	blood:	n/a	n/a
17	CHD2	chr13:91998857-92004937	K562	blood:	n/a	chr13:91999921-91999931 chr13:92000220-92000230 chr13:91999849-91999859 chr13:91999694-91999704 chr13:91999681-91999691
18	EP300	chr13:92000809-92003426	GM12878	blood:	n/a	chr13:92001077-92001093 chr13:92001923-92001937 chr13:92001320-92001329 chr13:92002720-92002734 chr13:92000872-92000888 chr13:92001090-92001099 chr13:92000884-92000893 chr13:92001156-92001172 chr13:92001639-92001653 chr13:92001470-92001484
19	PML	chr13:91998755-92014623	K562	blood:	n/a	chr13:92004530-92004538
20	POLR2A	chr13:92001898-92002623	U87	brain:	n/a	n/a
21	MYC	chr13:91999551-92002766	MCF10A-Er-Src	breast:	n/a	chr13:91999821-91999831 chr13:92001061-92001071 chr13:92001123-92001132 chr13:92001374-92001384 chr13:92000750-92000759
22	NR2F2	chr13:92000401-92013493	K562	blood:	n/a	n/a
23	SP1	chr13:92001219-92002589	K562	blood:	n/a	chr13:92001601-92001610 chr13:92001601-92001611 chr13:92001600-92001612 chr13:92001600-92001612 chr13:92001597-92001611
24	TEAD4	chr13:92000438-92003924	K562	blood:	n/a	n/a
25	RCOR1	chr13:91998375-92003817	K562	blood:	n/a	n/a
26	UBTF	chr13:91999042-92004685	K562	blood:	n/a	n/a
27	HEY1	chr13:92002244-92003820	K562	blood:	n/a	n/a
28	ZC3H11A	chr13:91998851-92005007	K562	blood:	n/a	n/a
29	ARID3A	chr13:92000636-92005036	K562	blood:	n/a	n/a
30	CUX1	chr13:92000778-92004954	K562	blood:	n/a	chr13:92003903-92003919
31	POLR2A	chr13:91998785-92013715	H1-hESC	embryonic stem cell:	n/a	n/a
32	IRF1	chr13:92000522-92015567	K562	blood:	n/a	chr13:92013107-92013121 chr13:92013111-92013121 chr13:92015195-92015205 chr13:92001474-92001483 chr13:92010361-92010370 chr13:92009104-92009120 chr13:92003791-92003801 chr13:92010053-92010066 chr13:92013793-92013809 chr13:92008284-92008301 chr13:92000878-92000892 chr13:92001513-92001527 chr13:92009645-92009657 chr13:92001475-92001489 chr13:92015191-92015205 chr13:92001513-92001523 chr13:92006902-92006911 chr13:92009639-92009649 chr13:92014383-92014397 chr13:92003551-92003565 chr13:92001151-92001165 chr13:92003555-92003566 chr13:92015193-92015206
33	MAX	chr13:92002308-92002689	K562	blood:	n/a	n/a
34	RCOR1	chr13:91999114-92003802	K562	blood:	n/a	n/a
35	NR2F2	chr13:92000589-92003368	K562	blood:	n/a	n/a
36	NRF1	chr13:92002309-92002735	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr13:91998979-92003365	K562	blood:	n/a	chr13:91999821-91999831 chr13:92001061-92001071 chr13:92001123-92001132 chr13:92001374-92001384 chr13:92000750-92000759
38	BACH1	chr13:92000500-92004941	K562	blood:	n/a	n/a
39	CTCF	chr13:92000496-92005058	K562	blood:	n/a	chr13:92001323-92001333 chr13:92004751-92004758 chr13:92001322-92001335 chr13:92001326-92001335 chr13:92001321-92001337 chr13:92001320-92001338 chr13:92000700-92000716 chr13:92001360-92001373 chr13:92000702-92000715 chr13:92001322-92001335 chr13:92000733-92000746 chr13:92000699-92000717
40	BCLAF1	chr13:92000442-92002774	K562	blood:	n/a	chr13:92001154-92001163 chr13:92000668-92000681 chr13:92000689-92000702 chr13:92000731-92000744 chr13:92000666-92000675 chr13:92001475-92001484 chr13:92000669-92000678 chr13:92000735-92000748 chr13:92001137-92001150 chr13:92001141-92001154 chr13:92001088-92001097 chr13:92001320-92001333 chr13:92001319-92001328 chr13:92000667-92000680 chr13:92000672-92000681
41	POLR2A	chr13:91998868-92013598	GM12891	blood:	n/a	n/a
42	MAX	chr13:91998872-92002627	K562	blood:	n/a	chr13:91999821-91999831 chr13:92001061-92001071 chr13:92001123-92001132 chr13:92001374-92001384 chr13:92000750-92000759
43	POLR2A	chr13:91998281-92020412	K562	blood:	n/a	n/a
44	GTF2F1	chr13:92000530-92005107	K562	blood:	n/a	n/a
45	CHD1	chr13:91999232-92004503	H1-hESC	embryonic stem cell:	n/a	chr13:91999921-91999931 chr13:92000220-92000230 chr13:91999849-91999859 chr13:91999694-91999704 chr13:91999681-91999691
46	POLR2A	chr13:91998916-92004763	GM18505	blood:	n/a	n/a
47	TEAD4	chr13:92000447-92013586	K562	blood:	n/a	chr13:92013527-92013536
48	MYC	chr13:91998571-92003281	K562	blood:	n/a	chr13:91999821-91999831 chr13:92001061-92001071 chr13:92001123-92001132 chr13:92001374-92001384 chr13:92000750-92000759
49	HEY1	chr13:91998960-92006937	K562	blood:	n/a	chr13:92000732-92000747 chr13:91999759-91999774 chr13:92000047-92000062 chr13:92001077-92001092 chr13:92000951-92000966 chr13:91999845-91999860 chr13:91999816-91999831 chr13:92001321-92001336 chr13:92001014-92001029 chr13:92000044-92000059 chr13:91999967-91999982 chr13:92000666-92000681 chr13:91999729-91999744
50	CEBPB	chr13:92000953-92011168	K562	blood:	n/a	chr13:92004431-92004442

No.	Distal block	Cell Line	Cell type
1	chr13:92001207..92003151-chr15:65588208..65589789,2	K562	blood:
2	chr13:91998556..92002777-chr9:134147037..134155728,18	K562	blood:
3	chr13:91999405..92003025-chr22:23522118..23524074,3	K562	blood:
4	chr13:92000570..92002705-chr3:129223670..129225638,2	MCF-7	breast:
5	chr11:65685854..65687838-chr13:92002138..92004111,2	K562	blood:
6	chr13:92000505..92003025-chr22:23522118..23523811,2	K562	blood:
7	chr13:92000043..92002771-chr9:133971829..133974734,2	K562	blood:
8	chr13:91999905..92002821-chr22:19420290..19421943,2	K562	blood:
9	chr13:92000620..92002691-chr16:85648157..85650450,2	K562	blood:
10	chr11:64007679..64009892-chr13:92001604..92004305,2	K562	blood:
11	chr13:92001133..92002653-chr19:59054469..59057228,2	K562	blood:
12	chr13:92002065..92004050-chr19:46274195..46275791,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPC5-1	chr13:92001952-92004656	ENSG00000215417.5
2	lnc-GPC5-1	chr13:92001952-92006829	NONHSAT034665
3	lnc-GPC5-1	chr13:92002410-92004350	ENSG00000215417.5

Variant related genes	Relation type
MIR17HG	TF binding region
ENSG00000186716	Chromatin interaction
ENSG00000185608	Chromatin interaction
ENSG00000264910	Chromatin interaction
ENSG00000126882	Chromatin interaction
ENSG00000126878	Chromatin interaction
ENSG00000104936	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000267395	Chromatin interaction
ENSG00000173486	Chromatin interaction
ENSG00000130726	Chromatin interaction
ENSG00000236794	Chromatin interaction
ENSG00000175550	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17643188	0.86[ASN][1000 genomes]
rs8001234	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042947	chr13:91571040-92416897	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
2	nsv541871	chr13:91571040-92416897	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
3	esv1803618	chr13:91669587-92277699	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer 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	1945 gene(s)	inside rSNPs	diseases
4	nsv1050259	chr13:91759549-92152078	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1944 gene(s)	inside rSNPs	diseases
5	nsv541872	chr13:91759549-92152078	Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1944 gene(s)	inside rSNPs	diseases
6	nsv832679	chr13:91859467-92030220	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1943 gene(s)	inside rSNPs	diseases
7	esv1795019	chr13:91992157-92003589	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1146 gene(s)	inside rSNPs	diseases
8	esv1796361	chr13:91999737-92003589	Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1145 gene(s)	inside rSNPs	diseases
9	esv1802358	chr13:91999737-92003589	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1145 gene(s)	inside rSNPs	diseases
10	esv1802567	chr13:91999737-92003589	Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1145 gene(s)	inside rSNPs	diseases
11	esv1808768	chr13:91999737-92003589	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1145 gene(s)	inside rSNPs	diseases
12	esv1815968	chr13:91999737-92003589	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1145 gene(s)	inside rSNPs	diseases
13	esv1834079	chr13:91999737-92003589	Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1145 gene(s)	inside rSNPs	diseases
14	esv1834506	chr13:91999737-92003589	Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1145 gene(s)	inside rSNPs	diseases
15	esv1839472	chr13:91999737-92003589	Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1145 gene(s)	inside rSNPs	diseases
16	esv1840965	chr13:91999737-92003589	Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1145 gene(s)	inside rSNPs	diseases
17	esv1802171	chr13:91999737-92015977	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1940 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:91999000-92002800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:91999000-92003000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:91999600-92002600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr13:91999800-92002800	Active TSS	Muscle Satellite Cultured Cells	--
5	chr13:92001000-92002800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:92001400-92002800	Flanking Active TSS	Osteobl	bone
7	chr13:92001400-92004200	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
8	chr13:92001400-92004400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
9	chr13:92001400-92004400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
10	chr13:92001400-92004600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
11	chr13:92001400-92004600	Transcr. at gene 5' and 3'	Dnd41	blood
12	chr13:92001400-92004800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
13	chr13:92001400-92005000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
14	chr13:92001400-92005000	Transcr. at gene 5' and 3'	K562	blood
15	chr13:92001400-92005800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
16	chr13:92001600-92002600	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr13:92001600-92002600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr13:92001600-92002600	Weak transcription	Lung	lung
19	chr13:92001600-92002800	Weak transcription	Left Ventricle	heart
20	chr13:92001600-92002800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr13:92001600-92003000	Weak transcription	Gastric	stomach
22	chr13:92001600-92003400	Weak transcription	Small Intestine	intestine
23	chr13:92001600-92003600	Transcr. at gene 5' and 3'	NHEK	skin
24	chr13:92001600-92003800	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
25	chr13:92001600-92003800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:92001600-92004600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
27	chr13:92001600-92010200	Weak transcription	Spleen	Spleen
28	chr13:92001600-92010800	Weak transcription	Pancreas	Pancrea
29	chr13:92001600-92012200	Weak transcription	Esophagus	oesophagus
30	chr13:92001800-92002600	Enhancers	Primary B cells from peripheral blood	blood
31	chr13:92001800-92002600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr13:92001800-92002600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr13:92001800-92002800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr13:92001800-92002800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:92001800-92002800	Enhancers	Brain Cingulate Gyrus	brain
36	chr13:92001800-92002800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr13:92001800-92002800	Weak transcription	Right Atrium	heart
38	chr13:92001800-92003600	Transcr. at gene 5' and 3'	A549	lung
39	chr13:92001800-92003800	Transcr. at gene 5' and 3'	Hela-S3	cervix
40	chr13:92001800-92004000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr13:92001800-92004800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr13:92001800-92007000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr13:92001800-92015600	Weak transcription	Ovary	ovary
44	chr13:92001800-92027200	Weak transcription	Aorta	Aorta
45	chr13:92002000-92002600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr13:92002000-92002600	Enhancers	Brain Anterior Caudate	brain
47	chr13:92002000-92002600	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr13:92002000-92002600	Genic enhancers	Colon Smooth Muscle	Colon
49	chr13:92002000-92002800	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr13:92002000-92002800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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