Variant report

Variant	rs11172114
Chromosome Location	chr12:57529443-57529444
allele	C/T
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	chr12:57528917-57530798	IMR90	lung:	n/a	chr12:57529764-57529780 chr12:57530182-57530192
2	POLR2A	chr12:57529249-57529528	U87	brain:	n/a	n/a
3	FOXP2	chr12:57529295-57529650	SK-N-MC	brain:	n/a	n/a
4	TCF12	chr12:57529342-57530093	H1-hESC	embryonic stem cell:	n/a	chr12:57529934-57529941 chr12:57529990-57529998 chr12:57529569-57529576
5	TEAD4	chr12:57529318-57529592	H1-hESC	embryonic stem cell:	n/a	n/a
6	TCF12	chr12:57529324-57529671	H1-hESC	embryonic stem cell:	n/a	chr12:57529569-57529576
7	TBP	chr12:57529385-57529488	H1-hESC	embryonic stem cell:	n/a	n/a
8	FOXP2	chr12:57529187-57529702	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr12:57529361-57530066	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr12:57529306-57529555	H1-hESC	embryonic stem cell:	n/a	n/a
11	SP1	chr12:57529244-57530132	H1-hESC	embryonic stem cell:	n/a	chr12:57529438-57529447 chr12:57529644-57529655 chr12:57529496-57529510 chr12:57529608-57529618 chr12:57529436-57529448 chr12:57529436-57529448 chr12:57529608-57529617
12	POLR2A	chr12:57529342-57529616	SK-N-MC	brain:	n/a	n/a
13	EP300	chr12:57529354-57529714	SK-N-SH_RA	brain:	n/a	n/a
14	RCOR1	chr12:57528752-57530900	IMR90	lung:	n/a	n/a
15	CHD2	chr12:57529350-57529649	H1-hESC	embryonic stem cell:	n/a	n/a
16	GTF2F1	chr12:57529367-57529458	H1-hESC	embryonic stem cell:	n/a	n/a
17	EP300	chr12:57529373-57529711	SK-N-SH_RA	brain:	n/a	n/a
18	BRCA1	chr12:57529400-57529547	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr12:57529223-57529528	U87	brain:	n/a	n/a
20	REST	chr12:57529312-57529518	SK-N-SH	brain:	n/a	chr12:57529444-57529454
21	SIN3A	chr12:57529395-57530080	H1-hESC	embryonic stem cell:	n/a	chr12:57529843-57529854 chr12:57529724-57529735
22	POLR2A	chr12:57529127-57529683	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:57521080..57523777-chr12:57528183..57530441,2	MCF-7	breast:
2	chr12:57523914..57525721-chr12:57528681..57531403,2	K562	blood:
3	chr12:57529139..57531272-chr12:57558863..57560551,2	MCF-7	breast:
4	chr12:57482811..57485569-chr12:57529110..57530710,2	MCF-7	breast:

Variant related genes	Relation type
STAT6	TF binding region
ENSG00000166888	Chromatin interaction
ENSG00000166886	Chromatin interaction
ENSG00000123384	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10747776	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876964	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10876965	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1385526	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1466535	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4257011	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4367982	0.91[EUR][1000 genomes]
rs4759045	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4759277	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57523000-57530400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:57523400-57557200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:57523600-57529600	Enhancers	A549	lung
4	chr12:57523600-57532400	Weak transcription	Pancreas	Pancrea
5	chr12:57523800-57529600	Enhancers	Stomach Mucosa	stomach
6	chr12:57523800-57530000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:57523800-57530600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:57523800-57532600	Weak transcription	Gastric	stomach
9	chr12:57523800-57537000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr12:57524000-57530400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr12:57524000-57530400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:57524000-57542200	Weak transcription	HMEC	breast
13	chr12:57524000-57543000	Weak transcription	NHEK	skin
14	chr12:57524400-57530000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr12:57524600-57530400	Enhancers	Left Ventricle	heart
16	chr12:57524800-57530600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:57524800-57530800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:57525200-57529800	Enhancers	Duodenum Mucosa	Duodenum
19	chr12:57525800-57531800	Weak transcription	Small Intestine	intestine
20	chr12:57525800-57534200	Genic enhancers	Primary monocytes fromperipheralblood	blood
21	chr12:57526000-57530400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:57526000-57531000	Enhancers	Brain Angular Gyrus	brain
23	chr12:57526200-57534800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:57526400-57529600	Enhancers	Ovary	ovary
25	chr12:57526400-57530000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:57526400-57530800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr12:57526400-57532400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:57526600-57529800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:57526600-57532200	Enhancers	Liver	Liver
30	chr12:57526600-57533400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:57526800-57530600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:57526800-57531600	Genic enhancers	Monocytes-CD14+_RO01746	blood
33	chr12:57527000-57530600	Enhancers	Fetal Brain Male	brain
34	chr12:57527000-57532000	Weak transcription	Hela-S3	cervix
35	chr12:57527000-57534600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:57527200-57530800	Enhancers	Brain Hippocampus Middle	brain
37	chr12:57527200-57531600	Weak transcription	K562	blood
38	chr12:57527200-57533400	Weak transcription	Fetal Kidney	kidney
39	chr12:57527400-57529600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr12:57527400-57530000	Enhancers	Spleen	Spleen
41	chr12:57527400-57530600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr12:57527400-57530600	Enhancers	NH-A	brain
43	chr12:57527600-57530600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:57527800-57530000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr12:57527800-57530400	Enhancers	Aorta	Aorta
46	chr12:57527800-57532000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:57528000-57529600	Weak transcription	Lung	lung
48	chr12:57528000-57530200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr12:57528000-57530600	Genic enhancers	Fetal Intestine Large	intestine
50	chr12:57528000-57531600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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