Variant report

Variant	rs12314690
Chromosome Location	chr12:9218906-9218907
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RFX5	chr12:9218872-9219308	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:9216895-9230988	HepG2	liver:	n/a	n/a
3	MBD4	chr12:9218319-9219866	HepG2	liver:	n/a	n/a
4	SIN3AK20	chr12:9218733-9219221	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:9218713-9219288	HepG2	liver:	n/a	n/a
6	POLR2A	chr12:9216806-9219983	HepG2	liver:	n/a	n/a
7	CHD2	chr12:9217996-9219810	HepG2	liver:	n/a	n/a
8	POLR2A	chr12:9216389-9221070	HepG2	liver:	n/a	n/a
9	MYBL2	chr12:9218472-9220191	HepG2	liver:	n/a	n/a
10	POLR2A	chr12:9217415-9220251	HepG2	liver:	n/a	n/a
11	POLR2A	chr12:9216589-9220417	HepG2	liver:	n/a	n/a
12	MBD4	chr12:9218464-9220244	HepG2	liver:	n/a	n/a
13	YY1	chr12:9218778-9219220	HepG2	liver:	n/a	n/a
14	USF2	chr12:9218767-9219050	HepG2	liver:	n/a	n/a
15	JUND	chr12:9218573-9219550	HepG2	liver:	n/a	n/a
16	RCOR1	chr12:9218832-9219139	HepG2	liver:	n/a	n/a
17	CEBPD	chr12:9218699-9219225	HepG2	liver:	n/a	n/a
18	NFIC	chr12:9218583-9220189	HepG2	liver:	n/a	n/a
19	MAZ	chr12:9218905-9219539	HepG2	liver:	n/a	n/a
20	POLR2A	chr12:9218905-9218912	MCF10A-Er-Src	breast:	n/a	n/a
21	JUND	chr12:9218894-9219289	HepG2	liver:	n/a	n/a
22	CEBPD	chr12:9218855-9219197	HepG2	liver:	n/a	n/a
23	MYBL2	chr12:9218833-9219569	HepG2	liver:	n/a	n/a
24	NFIC	chr12:9218587-9219470	HepG2	liver:	n/a	n/a
25	POLR2A	chr12:9216161-9220988	HepG2	liver:	n/a	n/a
26	HEY1	chr12:9218791-9219388	HepG2	liver:	n/a	n/a
27	BRCA1	chr12:9218702-9219163	HepG2	liver:	n/a	n/a
28	FOSL2	chr12:9217444-9219607	HepG2	liver:	n/a	n/a
29	CTCF	chr12:9218800-9218950	GM12869	blood:	n/a	n/a
30	CREB1	chr12:9216657-9219423	HepG2	liver:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9218102..9220634-chr12:9230847..9232385,2	MCF-7	breast:
2	chr12:9218454..9221005-chr12:9232709..9234704,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLRG1-1	chr12:9218422-9219303	NONHSAT026384

No data

Variant related genes	Relation type
LINC00612	TF binding region
ENSG00000175899	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12300614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303841	0.83[AFR][1000 genomes]
rs12305636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12316559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898738	chr12:9205030-9274394	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9217400-9223400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr12:9217600-9223200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:9217800-9219200	Enhancers	Gastric	stomach
4	chr12:9217800-9220400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:9217800-9225000	Weak transcription	Small Intestine	intestine
6	chr12:9217800-9234200	Weak transcription	Primary T cells from cord blood	blood
7	chr12:9218000-9219000	ZNF genes & repeats	Spleen	Spleen
8	chr12:9218000-9219200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:9218000-9220000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:9218000-9226800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:9218000-9234000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:9218200-9219000	ZNF genes & repeats	Placenta	Placenta
13	chr12:9218200-9219000	Flanking Active TSS	HepG2	liver
14	chr12:9218200-9219200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:9218200-9219200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:9218200-9219200	ZNF genes & repeats	Fetal Stomach	stomach
17	chr12:9218200-9219600	Enhancers	Fetal Intestine Large	intestine
18	chr12:9218200-9220000	Enhancers	Hela-S3	cervix
19	chr12:9218200-9220000	Enhancers	HMEC	breast
20	chr12:9218200-9223000	Weak transcription	Aorta	Aorta
21	chr12:9218200-9223200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:9218200-9224200	Weak transcription	Ovary	ovary
23	chr12:9218200-9232200	Weak transcription	Fetal Muscle Leg	muscle
24	chr12:9218200-9236200	Weak transcription	Psoas Muscle	Psoas
25	chr12:9218200-9266200	Weak transcription	Fetal Kidney	kidney
26	chr12:9218400-9219000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:9218400-9219000	Enhancers	Left Ventricle	heart
28	chr12:9218400-9219000	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr12:9218400-9219200	Enhancers	Esophagus	oesophagus
30	chr12:9218400-9219200	Enhancers	Pancreas	Pancrea
31	chr12:9218400-9219800	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr12:9218400-9220000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr12:9218400-9220200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:9218400-9220200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:9218400-9220400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:9218400-9223800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr12:9218400-9224200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:9218400-9224200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr12:9218400-9224600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr12:9218400-9228600	Weak transcription	Brain Anterior Caudate	brain
41	chr12:9218400-9230800	Weak transcription	Brain Hippocampus Middle	brain
42	chr12:9218400-9231000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr12:9218400-9234400	Weak transcription	Right Atrium	heart
44	chr12:9218400-9236600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:9218400-9236600	Weak transcription	Brain Substantia Nigra	brain
46	chr12:9218400-9237200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr12:9218600-9219000	Weak transcription	Lung	lung
48	chr12:9218600-9219200	Enhancers	Liver	Liver
49	chr12:9218600-9219200	Genic enhancers	Right Ventricle	heart
50	chr12:9218600-9219600	Enhancers	Primary monocytes fromperipheralblood	blood

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