Variant report

Variant	rs57327546
Chromosome Location	chr12:48340702-48340703
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	MAX	chr12:48340123-48340864	Hela-S3	cervix:	n/a	chr12:48340182-48340191 chr12:48340701-48340710
2	POLR2A	chr12:48340197-48340715	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr12:48340547-48340742	MCF10A-Er-Src	breast:	n/a	n/a
4	MAZ	chr12:48340243-48340788	Hela-S3	cervix:	n/a	chr12:48340701-48340710
5	TCF7L2	chr12:48340211-48341106	Hela-S3	cervix:	n/a	n/a
6	GTF2F1	chr12:48340579-48340769	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr12:48340277-48340887	Hela-S3	cervix:	n/a	n/a
8	RCOR1	chr12:48340244-48340893	Hela-S3	cervix:	n/a	n/a
9	MAFK	chr12:48340152-48340743	Hela-S3	cervix:	n/a	chr12:48340191-48340207 chr12:48340421-48340431 chr12:48340192-48340206 chr12:48340188-48340203
10	POLR2A	chr12:48340690-48340711	Hela-S3	cervix:	n/a	n/a
11	MAX	chr12:48340473-48341148	NB4	blood:	n/a	chr12:48340701-48340710
12	SPI1	chr12:48340432-48341070	HL-60	blood:	n/a	chr12:48340743-48340756 chr12:48340723-48340736
13	CEBPB	chr12:48340181-48340974	Hela-S3	cervix:	n/a	n/a
14	SMC3	chr12:48340340-48340851	Hela-S3	cervix:	n/a	n/a
15	SMARCB1	chr12:48340184-48341466	Hela-S3	cervix:	n/a	n/a
16	RFX5	chr12:48340617-48340911	Hela-S3	cervix:	n/a	n/a
17	SMARCC2	chr12:48340240-48341026	Hela-S3	cervix:	n/a	n/a
18	MYC	chr12:48340430-48341103	NB4	blood:	n/a	chr12:48340701-48340710
19	CHD2	chr12:48340276-48340828	Hela-S3	cervix:	n/a	n/a
20	SMARCC1	chr12:48340192-48341099	Hela-S3	cervix:	n/a	n/a
21	SPI1	chr12:48340505-48340931	HL-60	blood:	n/a	chr12:48340743-48340756 chr12:48340723-48340736
22	BRCA1	chr12:48340471-48340847	Hela-S3	cervix:	n/a	n/a
23	ZKSCAN1	chr12:48340455-48340751	Hela-S3	cervix:	n/a	n/a
24	SPI1	chr12:48340666-48340802	K562	blood:	n/a	chr12:48340743-48340756 chr12:48340723-48340736

No.	Distal block	Cell Line	Cell type
1	chr12:48339969..48342316-chr12:48356625..48358827,2	MCF-7	breast:
2	chr12:48290096..48306593-chr12:48332606..48350271,44	MCF-7	breast:
3	chr12:48294459..48300703-chr12:48338090..48345573,18	MCF-7	breast:
4	chr12:48265158..48267114-chr12:48338782..48341101,2	MCF-7	breast:
5	chr12:48335438..48337968-chr12:48338548..48340997,2	MCF-7	breast:
6	chr12:48337310..48342034-chr12:48342237..48346016,6	MCF-7	breast:
7	chr11:67168340..67169201-chr12:48340364..48340903,2	Hela-S3	cervix:
8	chr12:48098681..48100695-chr12:48339723..48341615,2	K562	blood:

Variant related genes	Relation type
VDR	TF binding region
ENSG00000005175	Chromatin interaction
ENSG00000134291	Chromatin interaction
ENSG00000111424	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000257433	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56260758	1.00[AFR][1000 genomes]
rs61554705	1.00[AFR][1000 genomes]
rs74086577	0.83[AFR][1000 genomes]
rs74086591	0.83[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48335800-48346000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:48336600-48341200	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr12:48336600-48343200	Weak transcription	Right Ventricle	heart
4	chr12:48337800-48343200	Weak transcription	Pancreas	Pancrea
5	chr12:48338400-48342400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:48338400-48348800	Enhancers	HMEC	breast
7	chr12:48338800-48341600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:48338800-48341600	Enhancers	Fetal Kidney	kidney
9	chr12:48338800-48341600	Enhancers	Placenta	Placenta
10	chr12:48338800-48343200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:48339000-48341800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:48339200-48342400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:48339400-48341400	Enhancers	Colonic Mucosa	Colon
14	chr12:48339600-48340800	Enhancers	Fetal Heart	heart
15	chr12:48339600-48340800	Enhancers	NHDF-Ad	bronchial
16	chr12:48339800-48340800	Enhancers	Fetal Intestine Small	intestine
17	chr12:48339800-48340800	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr12:48339800-48341000	Enhancers	A549	lung
19	chr12:48339800-48341600	Enhancers	Ovary	ovary
20	chr12:48339800-48341800	Enhancers	Fetal Lung	lung
21	chr12:48340000-48341600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:48340200-48340800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:48340200-48340800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:48340200-48340800	Flanking Active TSS	Osteobl	bone
25	chr12:48340200-48341000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
26	chr12:48340200-48341000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr12:48340200-48341000	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr12:48340200-48341200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:48340200-48341200	Enhancers	Primary hematopoietic stem cells	blood
30	chr12:48340200-48341200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:48340200-48341200	Flanking Active TSS	Hela-S3	cervix
32	chr12:48340200-48341400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:48340200-48341400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr12:48340200-48341400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr12:48340200-48341600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:48340200-48341600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr12:48340200-48341600	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr12:48340200-48341600	Enhancers	NHLF	lung
39	chr12:48340200-48341800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:48340400-48340800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr12:48340400-48340800	Bivalent Enhancer	Fetal Stomach	stomach
42	chr12:48340400-48341000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr12:48340400-48341000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:48340400-48341000	Enhancers	Brain Angular Gyrus	brain
45	chr12:48340400-48341000	Enhancers	Spleen	Spleen
46	chr12:48340400-48341200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
47	chr12:48340400-48341200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:48340400-48341200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr12:48340400-48341200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:48340400-48341200	Flanking Active TSS	HSMMtube	muscle

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