Variant report

Variant	rs11112928
Chromosome Location	chr12:106678691-106678692
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr12:106678590-106678860	K562	blood:	n/a	n/a
2	REST	chr12:106677880-106678835	H1-neurons	neurons:	n/a	n/a
3	RCOR1	chr12:106678516-106678854	K562	blood:	n/a	n/a
4	MBD4	chr12:106678257-106678748	HepG2	liver:	n/a	n/a
5	FOSL2	chr12:106678211-106678824	HepG2	liver:	n/a	n/a
6	FOXA1	chr12:106678116-106678836	HepG2	liver:	n/a	n/a
7	TCF12	chr12:106678380-106678714	HepG2	liver:	n/a	n/a
8	REST	chr12:106678323-106678728	HepG2	liver:	n/a	n/a
9	EP300	chr12:106678282-106678769	HepG2	liver:	n/a	n/a
10	CEBPB	chr12:106678158-106678733	HepG2	liver:	n/a	n/a
11	MAX	chr12:106678205-106679037	HepG2	liver:	n/a	n/a
12	POLR2A	chr12:106678109-106678703	H1-neurons	neurons:	n/a	n/a
13	FOXA2	chr12:106677916-106679001	HepG2	liver:	n/a	n/a
14	SMC3	chr12:106678420-106678840	HepG2	liver:	n/a	n/a
15	BHLHE40	chr12:106678301-106678842	HepG2	liver:	n/a	n/a
16	EP300	chr12:106678194-106678841	HepG2	liver:	n/a	n/a
17	MAZ	chr12:106678385-106678767	HepG2	liver:	n/a	n/a
18	MYBL2	chr12:106678115-106678824	HepG2	liver:	n/a	n/a
19	CUX1	chr12:106678630-106678703	K562	blood:	n/a	n/a
20	FOXA1	chr12:106678183-106678812	HepG2	liver:	n/a	n/a
21	CHD2	chr12:106678427-106678712	HepG2	liver:	n/a	n/a
22	NFIC	chr12:106678309-106678694	HepG2	liver:	n/a	n/a
23	SP1	chr12:106678203-106678883	HepG2	liver:	n/a	n/a
24	MAX	chr12:106678605-106678783	K562	blood:	n/a	n/a
25	REST	chr12:106677944-106679025	H1-neurons	neurons:	n/a	n/a
26	MXI1	chr12:106678165-106678889	HepG2	liver:	n/a	n/a
27	FOXA2	chr12:106678287-106678706	HepG2	liver:	n/a	n/a
28	RFX5	chr12:106678241-106678778	HepG2	liver:	n/a	n/a
29	CTCF	chr12:106678600-106678750	HepG2	liver:	n/a	n/a
30	FOSL2	chr12:106678263-106678790	HepG2	liver:	n/a	n/a
31	RCOR1	chr12:106678405-106678763	HepG2	liver:	n/a	n/a
32	RXRA	chr12:106678293-106678700	HepG2	liver:	n/a	n/a
33	MAX	chr12:106678375-106678732	HepG2	liver:	n/a	n/a
34	JUND	chr12:106678298-106678729	HepG2	liver:	n/a	n/a
35	FOXA1	chr12:106678186-106678773	HepG2	liver:	n/a	n/a
36	EP300	chr12:106678343-106678738	HepG2	liver:	n/a	n/a
37	TCF7L2	chr12:106678267-106678789	HepG2	liver:	n/a	n/a
38	ARID3A	chr12:106678171-106679157	HepG2	liver:	n/a	n/a
39	NFIC	chr12:106678218-106678833	HepG2	liver:	n/a	n/a
40	MYBL2	chr12:106678247-106678738	HepG2	liver:	n/a	n/a
41	FOXA1	chr12:106678235-106678728	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106634944..106646449-chr12:106667585..106679535,27	MCF-7	breast:

No data

Variant related genes	Relation type
RNU7-94P	TF binding region
ENSG00000136026	Chromatin interaction
ENSG00000258355	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10507210	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10746057	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10778460	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10861566	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861567	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10861569	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11112924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112926	0.89[ASN][1000 genomes]
rs11112927	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1148408	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1148409	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1148410	0.93[ASN][1000 genomes]
rs1148411	0.84[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1148412	0.80[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs1148442	0.93[ASN][1000 genomes]
rs1148443	0.92[ASN][1000 genomes]
rs1215808	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12230190	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12371989	0.87[EUR][1000 genomes]
rs12823006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2047545	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2279760	0.81[JPT][hapmap]
rs7304941	0.81[JPT][hapmap]
rs7308143	0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7311121	0.97[ASN][1000 genomes]
rs7311133	0.97[ASN][1000 genomes]
rs7315560	0.97[ASN][1000 genomes]

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106666200-106680800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:106676200-106679200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:106676600-106681000	Weak transcription	Stomach Mucosa	stomach
4	chr12:106677000-106681400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:106677200-106682200	Weak transcription	Fetal Intestine Large	intestine
6	chr12:106677200-106683600	Enhancers	HepG2	liver
7	chr12:106677600-106679000	Enhancers	Fetal Heart	heart
8	chr12:106677600-106679800	Enhancers	Fetal Brain Male	brain
9	chr12:106678000-106678800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:106678000-106679000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:106678200-106678800	Enhancers	Fetal Brain Female	brain
12	chr12:106678200-106678800	Enhancers	NHEK	skin
13	chr12:106678200-106679000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr12:106678200-106679000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr12:106678200-106679000	Enhancers	Spleen	Spleen
16	chr12:106678200-106679000	Enhancers	HUVEC	blood vessel
17	chr12:106678200-106679200	Enhancers	Psoas Muscle	Psoas
18	chr12:106678200-106679600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:106678400-106678800	Enhancers	Brain Angular Gyrus	brain
20	chr12:106678400-106678800	Enhancers	HSMMtube	muscle
21	chr12:106678400-106679000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
22	chr12:106678400-106680000	Enhancers	Left Ventricle	heart
23	chr12:106678400-106680000	Enhancers	Right Atrium	heart
24	chr12:106678600-106678800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
25	chr12:106678600-106678800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:106678600-106678800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:106678600-106678800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
28	chr12:106678600-106679000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:106678600-106679000	Enhancers	Esophagus	oesophagus
30	chr12:106678600-106679000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr12:106678600-106679600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:106678600-106679600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr12:106678600-106682800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr12:106678600-106688800	Weak transcription	Lung	lung

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