Variant report

Variant	rs12422079
Chromosome Location	chr11:76750406-76750407
allele	A/C
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	RAD21	chr11:76750271-76751058	SK-N-SH	brain:	n/a	n/a
2	ZNF263	chr11:76749902-76750991	HEK293-T-REx	kidney:	n/a	n/a
3	CTCF	chr11:76750400-76750550	HAc	cerebellar:	n/a	n/a
4	CTCF	chr11:76750386-76750805	A549	lung:	n/a	n/a
5	E2F6	chr11:76750302-76752428	H1-hESC	embryonic stem cell:	n/a	chr11:76751128-76751143
6	SMC3	chr11:76750253-76751440	SK-N-SH	brain:	n/a	n/a
7	RAD21	chr11:76750348-76751035	SK-N-SH_RA	brain:	n/a	n/a
8	CTCF	chr11:76750280-76750430	WI-38	lung:	n/a	n/a
9	RAD21	chr11:76750352-76751137	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr11:76750119-76751410	SK-N-SH	brain:	n/a	n/a
11	RAD21	chr11:76750400-76750886	A549	lung:	n/a	n/a
12	RFX5	chr11:76750387-76750505	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr11:76750391-76750810	MCF-7	breast:	n/a	n/a
14	CTCF	chr11:76750313-76750920	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:76479171..76486141-chr11:76745972..76752965,12	MCF-7	breast:

Variant related genes	Relation type
B3GNT6	TF binding region
ENSG00000254632	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10899348	0.93[ASN][1000 genomes]
rs11237065	0.94[ASN][1000 genomes]
rs11600516	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11602496	0.94[ASN][1000 genomes]
rs11603853	0.87[ASN][1000 genomes]
rs11607153	0.94[ASN][1000 genomes]
rs12362167	0.95[ASN][1000 genomes]
rs12789749	0.94[ASN][1000 genomes]
rs12794060	0.94[ASN][1000 genomes]
rs56695052	0.87[ASN][1000 genomes]
rs58520141	0.93[ASN][1000 genomes]
rs61617479	0.90[ASN][1000 genomes]
rs61902094	0.98[ASN][1000 genomes]
rs61902097	0.98[ASN][1000 genomes]
rs61902099	0.94[ASN][1000 genomes]
rs61902104	0.90[ASN][1000 genomes]
rs72931522	0.90[ASN][1000 genomes]
rs7482827	0.94[ASN][1000 genomes]
rs7925199	0.85[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.83[ASN][1000 genomes]
rs7949146	0.94[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12422079	UCP3	cis	cerebellum	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76748400-76750600	Weak transcription	Right Atrium	heart
2	chr11:76749200-76750600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
3	chr11:76749200-76751400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr11:76749400-76750600	Enhancers	NH-A	brain
5	chr11:76749600-76750600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:76749600-76750800	Bivalent Enhancer	Stomach Mucosa	stomach
7	chr11:76749600-76751400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
8	chr11:76749600-76751400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:76749600-76751400	Bivalent Enhancer	Placenta	Placenta
10	chr11:76749800-76750600	Bivalent Enhancer	Fetal Intestine Small	intestine
11	chr11:76750000-76750600	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
12	chr11:76750000-76750600	Bivalent Enhancer	Fetal Intestine Large	intestine
13	chr11:76750000-76751000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
14	chr11:76750000-76751400	Bivalent Enhancer	Primary B cells from cord blood	blood
15	chr11:76750000-76752200	Genic enhancers	Gastric	stomach
16	chr11:76750200-76750600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:76750200-76750600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:76750200-76750600	Bivalent Enhancer	Esophagus	oesophagus
19	chr11:76750200-76750800	Enhancers	Lung	lung
20	chr11:76750200-76751000	Enhancers	Spleen	Spleen
21	chr11:76750200-76751400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
22	chr11:76750200-76751400	Flanking Active TSS	Pancreas	Pancrea
23	chr11:76750200-76756800	Weak transcription	A549	lung
24	chr11:76750400-76750600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
25	chr11:76750400-76750600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr11:76750400-76750600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
27	chr11:76750400-76750600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:76750400-76750600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
29	chr11:76750400-76750600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:76750400-76750600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:76750400-76750600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:76750400-76750600	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:76750400-76750600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:76750400-76750600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:76750400-76750600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:76750400-76750600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
37	chr11:76750400-76750600	Bivalent Enhancer	Colonic Mucosa	Colon
38	chr11:76750400-76750600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr11:76750400-76750600	Bivalent Enhancer	Fetal Stomach	stomach
40	chr11:76750400-76750600	Bivalent Enhancer	Fetal Thymus	thymus
41	chr11:76750400-76750600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr11:76750400-76750600	Bivalent Enhancer	Right Ventricle	heart
43	chr11:76750400-76750600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
44	chr11:76750400-76750600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
45	chr11:76750400-76750600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
46	chr11:76750400-76750600	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
47	chr11:76750400-76750600	Bivalent Enhancer	HUVEC	blood vessel
48	chr11:76750400-76750800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:76750400-76750800	Bivalent Enhancer	Fetal Muscle Leg	muscle
50	chr11:76750400-76750800	Bivalent/Poised TSS	NHEK	skin

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