Variant report

Variant	rs513786
Chromosome Location	chr12:120904574-120904575
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:200)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:200 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120904309-120904623	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr12:120904440-120904590	RPTEC	kidney:	n/a	n/a
3	RAD21	chr12:120904367-120904633	GM12878	blood:	n/a	n/a
4	RAD21	chr12:120904394-120904647	A549	lung:	n/a	n/a
5	MYC	chr12:120904513-120904584	K562	blood:	n/a	n/a
6	CTCF	chr12:120904480-120904630	GM12864	blood:	n/a	n/a
7	CTCF	chr12:120904440-120904590	HMF	breast:	n/a	n/a
8	POLR2A	chr12:120903959-120904743	K562	blood:	n/a	n/a
9	POLR2A	chr12:120904398-120904655	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr12:120904480-120904630	WI-38	lung:	n/a	n/a
11	RAD21	chr12:120904185-120905125	SK-N-SH	brain:	n/a	n/a
12	CTCF	chr12:120904440-120904590	NHLF	lung:	n/a	n/a
13	CTCF	chr12:120904420-120904669	MCF-7	breast:	n/a	n/a
14	CTCF	chr12:120904440-120904590	GM12872	blood:	n/a	n/a
15	POLR2A	chr12:120903204-120904594	K562	blood:	n/a	n/a
16	CTCF	chr12:120904500-120904650	Caco-2	colon:	n/a	n/a
17	CTCF	chr12:120904434-120904672	Fibrobl	skin:	n/a	n/a
18	RAD21	chr12:120904301-120904783	MCF-7	breast:	n/a	n/a
19	CTCF	chr12:120904419-120904669	K562	blood:	n/a	n/a
20	CTCF	chr12:120904457-120904648	HepG2	liver:	n/a	n/a
21	RAD21	chr12:120904291-120904801	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr12:120904405-120904669	GM12891	blood:	n/a	n/a
23	CTCF	chr12:120904473-120904622	Kidney_OC	kidney:	n/a	n/a
24	POLR2A	chr12:120904395-120904673	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr12:120904500-120904650	GM12874	blood:	n/a	n/a
26	CTCF	chr12:120904460-120904610	GM12871	blood:	n/a	n/a
27	POLR2A	chr12:120903850-120904782	PFSK-1	brain:	n/a	n/a
28	CTCF	chr12:120904319-120904685	H1-hESC	embryonic stem cell:	n/a	n/a
29	UBTF	chr12:120904485-120904660	K562	blood:	n/a	n/a
30	RAD21	chr12:120904419-120904640	GM12878	blood:	n/a	n/a
31	CTCF	chr12:120904431-120904656	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr12:120904284-120905388	HepG2	liver:	n/a	n/a
33	CTCF	chr12:120904460-120904610	GM12873	blood:	n/a	n/a
34	CTCF	chr12:120904425-120904669	Gliobla	brain:	n/a	n/a
35	CTCF	chr12:120904460-120904610	HAc	cerebellar:	n/a	n/a
36	CTCF	chr12:120904416-120904674	MCF-7	breast:	n/a	n/a
37	POLR2A	chr12:120904316-120904642	MCF-7	breast:	n/a	n/a
38	CTCF	chr12:120904357-120904746	T-47D	breast:	n/a	n/a
39	RAD21	chr12:120904360-120904699	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr12:120904418-120904635	GM19239	blood:	n/a	n/a
41	CTCF	chr12:120904436-120904669	Pancreas_OC	pancreas:	n/a	n/a
42	CTCF	chr12:120904440-120904590	GM12870	blood:	n/a	n/a
43	CTCF	chr12:120904440-120904590	AG09319	gingival:	n/a	n/a
44	CTCF	chr12:120904430-120904645	GM13977	blood:	n/a	n/a
45	CTCF	chr12:120904440-120904590	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr12:120904460-120904610	GM12864	blood:	n/a	n/a
47	CTCF	chr12:120904387-120904658	HepG2	liver:	n/a	n/a
48	CTCF	chr12:120904371-120904696	A549	lung:	n/a	n/a
49	CTCF	chr12:120904318-120904667	HepG2	liver:	n/a	n/a
50	CTCF	chr12:120904440-120904590	SAEC	small airway:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120903038..120905431-chr12:120905615..120907773,3	MCF-7	breast:
2	chr12:120902972..120904717-chr12:120970702..120973004,2	MCF-7	breast:
3	chr12:120876566..120877211-chr12:120903967..120904688,2	K562	blood:
4	chr12:120727751..120732241-chr12:120903536..120914205,12	MCF-7	breast:
5	chr12:120727396..120732537-chr12:120902983..120911236,13	K562	blood:
6	chr12:120903651..120915747-chr12:120930491..120936868,24	K562	blood:
7	chr12:120873907..120875736-chr12:120904532..120906530,2	MCF-7	breast:
8	chr12:120882707..120885246-chr12:120903882..120905695,2	MCF-7	breast:
9	chr12:120902897..120904782-chr12:120966236..120968929,2	K562	blood:
10	chr12:120875699..120878976-chr12:120901336..120905207,3	MCF-7	breast:
11	chr12:120899786..120915162-chr12:120926090..120939394,54	MCF-7	breast:
12	chr12:120880802..120886804-chr12:120903895..120909908,12	K562	blood:
13	chr12:120903724..120908002-chr12:120939821..120944385,4	MCF-7	breast:
14	chr12:120888535..120893350-chr12:120899980..120905393,5	MCF-7	breast:
15	chr12:120876128..120878173-chr12:120904219..120906337,2	K562	blood:
16	chr12:120877534..120878072-chr12:120903976..120904854,2	MCF-7	breast:

No data

Variant related genes	Relation type
DYNLL1	TF binding region
SRSF9	TF binding region
ENSG00000200795	Chromatin interaction
ENSG00000222601	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000111780	Chromatin interaction
ENSG00000111775	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000219355	Chromatin interaction
ENSG00000248008	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1151877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1151878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1151879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1179461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1183787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1732844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1794735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2859292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs485198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs512688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs519058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs559838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs565266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120885400-120906000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:120885400-120906000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:120885800-120904600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:120885800-120904600	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:120886200-120904800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:120887000-120905000	Strong transcription	Thymus	Thymus
7	chr12:120887000-120905600	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr12:120887200-120904600	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:120888600-120905800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:120889800-120904600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:120890400-120905800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:120890600-120905400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:120891000-120905800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:120891200-120905600	Strong transcription	Placenta	Placenta
15	chr12:120891200-120905800	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:120891600-120904600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:120891600-120905200	Strong transcription	Fetal Intestine Large	intestine
18	chr12:120892400-120905000	Strong transcription	Primary T cells from cord blood	blood
19	chr12:120892400-120905600	Strong transcription	Fetal Intestine Small	intestine
20	chr12:120892600-120905600	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr12:120893800-120904600	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr12:120893800-120904800	Strong transcription	Osteobl	bone
23	chr12:120893800-120905000	Strong transcription	Lung	lung
24	chr12:120893800-120905600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr12:120894000-120904600	Strong transcription	NHDF-Ad	bronchial
26	chr12:120894000-120905000	Strong transcription	NHLF	lung
27	chr12:120894000-120905400	Strong transcription	NHEK	skin
28	chr12:120895200-120905000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:120896200-120905200	Strong transcription	Aorta	Aorta
30	chr12:120902000-120905000	Weak transcription	Gastric	stomach
31	chr12:120902000-120906000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:120902200-120905600	Weak transcription	Fetal Heart	heart
33	chr12:120902600-120905800	Weak transcription	Stomach Mucosa	stomach
34	chr12:120902800-120905600	Weak transcription	Fetal Brain Male	brain
35	chr12:120903200-120904600	Genic enhancers	Dnd41	blood
36	chr12:120903200-120905000	Genic enhancers	Brain Cingulate Gyrus	brain
37	chr12:120903400-120904600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr12:120903400-120904600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:120903400-120904800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:120903400-120904800	Weak transcription	Fetal Kidney	kidney
41	chr12:120903400-120905600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:120903400-120905600	Genic enhancers	A549	lung
43	chr12:120903400-120905800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:120903400-120905800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:120903400-120906000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr12:120903600-120905000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr12:120903600-120905200	Genic enhancers	Liver	Liver
48	chr12:120903600-120905400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
49	chr12:120903600-120905400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:120903600-120905600	Genic enhancers	Brain Hippocampus Middle	brain

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