Variant report

Variant	rs12309184
Chromosome Location	chr12:9268834-9268835
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	MAFF	chr12:9268330-9268870	HepG2	liver:	n/a	n/a
2	HDAC2	chr12:9268360-9268858	HepG2	liver:	n/a	n/a
3	HEY1	chr12:9267413-9269213	HepG2	liver:	n/a	n/a
4	MXI1	chr12:9268288-9268934	HepG2	liver:	n/a	n/a
5	FOXA1	chr12:9268319-9268925	HepG2	liver:	n/a	n/a
6	STAT1	chr12:9268351-9269027	Hela-S3	cervix:	n/a	chr12:9268705-9268716 chr12:9268701-9268721 chr12:9268707-9268715
7	SMC3	chr12:9268273-9269169	HepG2	liver:	n/a	n/a
8	POLR2A	chr12:9268240-9269012	HepG2	liver:	n/a	n/a
9	MYBL2	chr12:9268122-9268974	HepG2	liver:	n/a	n/a
10	POLR2A	chr12:9268285-9268997	HepG2	liver:	n/a	n/a
11	MBD4	chr12:9267403-9269219	HepG2	liver:	n/a	n/a
12	EP300	chr12:9268256-9268989	HepG2	liver:	n/a	n/a
13	HDAC2	chr12:9268251-9268884	HepG2	liver:	n/a	n/a
14	RAD21	chr12:9268224-9268998	HepG2	liver:	n/a	n/a
15	RFX5	chr12:9268398-9268929	HepG2	liver:	n/a	n/a
16	FOXA1	chr12:9268200-9268999	HepG2	liver:	n/a	n/a
17	POLR2A	chr12:9267390-9269039	HepG2	liver:	n/a	n/a
18	NFIC	chr12:9267272-9269203	HepG2	liver:	n/a	n/a
19	HEY1	chr12:9267484-9269088	HepG2	liver:	n/a	n/a
20	EP300	chr12:9268347-9268873	HepG2	liver:	n/a	n/a
21	SRF	chr12:9268723-9268837	GM12878	blood:	n/a	chr12:9268794-9268808 chr12:9268791-9268805 chr12:9268788-9268805 chr12:9268790-9268808 chr12:9268794-9268805 chr12:9268790-9268804
22	TBP	chr12:9268246-9269070	HepG2	liver:	n/a	n/a
23	NR2F2	chr12:9268135-9269068	HepG2	liver:	n/a	n/a
24	JUND	chr12:9268267-9268855	HepG2	liver:	n/a	n/a
25	MAZ	chr12:9268241-9269202	HepG2	liver:	n/a	n/a
26	REST	chr12:9268191-9268883	HepG2	liver:	n/a	n/a
27	TEAD4	chr12:9268235-9269073	HepG2	liver:	n/a	n/a
28	RAD21	chr12:9268249-9268958	HepG2	liver:	n/a	n/a
29	SRF	chr12:9268490-9268932	HepG2	liver:	n/a	chr12:9268794-9268808 chr12:9268791-9268805 chr12:9268788-9268805 chr12:9268790-9268808 chr12:9268794-9268805 chr12:9268790-9268804
30	MYBL2	chr12:9268123-9269003	HepG2	liver:	n/a	n/a
31	NFIC	chr12:9268248-9268895	HepG2	liver:	n/a	n/a
32	REST	chr12:9268415-9268944	H1-neurons	neurons:	n/a	n/a
33	TCF7L2	chr12:9268347-9269268	HepG2	liver:	n/a	n/a
34	RCOR1	chr12:9268352-9268920	HepG2	liver:	n/a	n/a
35	EP300	chr12:9268266-9269072	HepG2	liver:	n/a	n/a
36	POLR2A	chr12:9267422-9269347	HepG2	liver:	n/a	n/a
37	NR2F2	chr12:9268134-9268997	HepG2	liver:	n/a	n/a
38	FOXA1	chr12:9268262-9268897	HepG2	liver:	n/a	n/a
39	MBD4	chr12:9268134-9268852	HepG2	liver:	n/a	n/a
40	FOXA1	chr12:9268297-9268911	HepG2	liver:	n/a	n/a
41	ARID3A	chr12:9268152-9269004	HepG2	liver:	n/a	n/a
42	SP1	chr12:9268277-9268942	HepG2	liver:	n/a	n/a
43	POLR2A	chr12:9268090-9268997	HepG2	liver:	n/a	n/a
44	SRF	chr12:9268382-9268970	HepG2	liver:	n/a	chr12:9268794-9268808 chr12:9268791-9268805 chr12:9268788-9268805 chr12:9268790-9268808 chr12:9268794-9268805 chr12:9268790-9268804
45	POLR2A	chr12:9268234-9268984	HepG2	liver:	n/a	n/a
46	POLR2A	chr12:9267580-9269296	HepG2	liver:	n/a	n/a
47	POLR2A	chr12:9268542-9268978	H1-neurons	neurons:	n/a	n/a
48	CEBPB	chr12:9268350-9269035	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
A2M	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11049035	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11049691	1.00[AMR][1000 genomes]
rs11049798	1.00[AMR][1000 genomes]
rs12303841	1.00[AMR][1000 genomes]
rs12306389	1.00[AMR][1000 genomes]
rs12307479	1.00[AMR][1000 genomes]
rs12308489	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	esv3504674	chr12:9243858-9318016	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3502154	chr12:9243906-9317851	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3502155	chr12:9243906-9317851	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3504685	chr12:9243948-9317959	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv527404	chr12:9250601-9435244	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9243000-9274800	Weak transcription	Small Intestine	intestine
2	chr12:9262800-9289000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:9264600-9269800	Active TSS	Brain Hippocampus Middle	brain
4	chr12:9264800-9269000	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr12:9264800-9270200	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr12:9265000-9269000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:9265000-9269200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:9265000-9270000	Active TSS	Right Atrium	heart
9	chr12:9265200-9269200	Active TSS	Duodenum Mucosa	Duodenum
10	chr12:9265200-9269200	Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr12:9265400-9269000	Active TSS	Fetal Muscle Leg	muscle
12	chr12:9265800-9269400	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr12:9266000-9269400	Active TSS	Fetal Stomach	stomach
14	chr12:9266000-9269400	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr12:9266200-9269000	Active TSS	Fetal Kidney	kidney
16	chr12:9266200-9270800	Active TSS	Stomach Smooth Muscle	stomach
17	chr12:9266200-9274800	Weak transcription	Gastric	stomach
18	chr12:9266400-9269400	Active TSS	Right Ventricle	heart
19	chr12:9266400-9270000	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr12:9266400-9270800	Active TSS	Aorta	Aorta
21	chr12:9266800-9269000	Active TSS	Fetal Lung	lung
22	chr12:9267600-9269000	Active TSS	Brain Cingulate Gyrus	brain
23	chr12:9267600-9269000	Active TSS	Placenta	Placenta
24	chr12:9267600-9269000	Active TSS	Left Ventricle	heart
25	chr12:9267600-9269000	Active TSS	Rectal Smooth Muscle	rectum
26	chr12:9267600-9269200	Active TSS	Brain Anterior Caudate	brain
27	chr12:9267600-9269200	Active TSS	Colonic Mucosa	Colon
28	chr12:9267600-9269600	Active TSS	Colon Smooth Muscle	Colon
29	chr12:9267800-9269000	Active TSS	Fetal Intestine Small	intestine
30	chr12:9267800-9270200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr12:9267800-9272200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr12:9268000-9270200	Enhancers	Fetal Heart	heart
33	chr12:9268200-9269000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr12:9268200-9269200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:9268200-9269400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:9268200-9269400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:9268200-9271800	Enhancers	HMEC	breast
38	chr12:9268200-9272200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr12:9268400-9269000	Enhancers	H1 Cell Line	embryonic stem cell
40	chr12:9268400-9269000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:9268400-9269000	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr12:9268400-9269000	Flanking Active TSS	Psoas Muscle	Psoas
43	chr12:9268400-9269000	Enhancers	Spleen	Spleen
44	chr12:9268400-9269000	Enhancers	HSMM	muscle
45	chr12:9268400-9269000	Flanking Active TSS	HSMMtube	muscle
46	chr12:9268400-9269000	Flanking Active TSS	NHLF	lung
47	chr12:9268400-9269200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:9268400-9269200	Flanking Active TSS	Liver	Liver
49	chr12:9268400-9269800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr12:9268400-9270200	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links