Variant report

Variant	rs12069333
Chromosome Location	chr1:226299730-226299731
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226185830..226192188-chr1:226295102..226300995,14	K562	blood:
2	chr1:226252321..226254478-chr1:226297571..226300117,4	MCF-7	breast:
3	chr1:226299067..226303074-chr1:226308302..226311904,7	K562	blood:
4	chr1:226184406..226191885-chr1:226296440..226300646,16	K562	blood:
5	chr1:226291063..226294065-chr1:226297850..226301516,3	MCF-7	breast:
6	chr1:226295177..226301855-chr1:226303668..226313005,25	K562	blood:
7	chr1:226297595..226300329-chr1:226411218..226413716,2	MCF-7	breast:
8	chr1:226170379..226172149-chr1:226298358..226299903,2	K562	blood:
9	chr1:226295676..226301816-chr1:226302378..226313716,36	MCF-7	breast:
10	chr1:226278316..226280585-chr1:226296182..226299761,5	K562	blood:
11	chr1:226269927..226271964-chr1:226297676..226300646,3	K562	blood:
12	chr1:226299228..226300786-chr1:226305720..226307494,2	K562	blood:
13	chr1:226278938..226281494-chr1:226297746..226299953,3	MCF-7	breast:
14	chr1:226269658..226271427-chr1:226298057..226300170,2	K562	blood:
15	chr1:226296926..226299854-chr1:226536011..226537716,2	K562	blood:
16	chr1:226297255..226299831-chr1:226594406..226596951,2	K562	blood:
17	chr1:226296964..226299854-chr1:226495270..226498546,5	K562	blood:
18	chr1:226259780..226262512-chr1:226298395..226301346,2	K562	blood:
19	chr1:226296659..226300170-chr1:226372926..226375910,6	MCF-7	breast:
20	chr1:226268761..226273887-chr1:226296275..226301554,11	MCF-7	breast:
21	chr1:226290752..226294518-chr1:226294723..226300130,8	K562	blood:
22	chr1:226247341..226256471-chr1:226296212..226302215,23	K562	blood:
23	chr1:226248728..226252252-chr1:226295575..226300283,12	MCF-7	breast:
24	chr1:226246090..226252706-chr1:226295668..226300269,21	K562	blood:
25	chr1:226248153..226256692-chr1:226295520..226301397,23	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000183814	Chromatin interaction
ENSG00000225518	Chromatin interaction
ENSG00000163041	Chromatin interaction
ENSG00000143799	Chromatin interaction
ENSG00000182827	Chromatin interaction
ENSG00000272562	Chromatin interaction
ENSG00000185155	Chromatin interaction
ENSG00000143751	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11577282	0.84[ASN][1000 genomes]
rs1219671	0.90[ASN][1000 genomes]
rs1877153	0.94[ASN][1000 genomes]
rs1877155	0.94[ASN][1000 genomes]
rs1877156	0.81[ASN][1000 genomes]
rs3892709	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	esv1792510	chr1:226277560-226323824	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226298400-226299800	Enhancers	Spleen	Spleen
2	chr1:226298600-226299800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
3	chr1:226298600-226299800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
4	chr1:226298600-226299800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
5	chr1:226298600-226299800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
6	chr1:226298600-226299800	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr1:226298600-226299800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr1:226298600-226299800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr1:226298600-226299800	Enhancers	Small Intestine	intestine
10	chr1:226298600-226299800	Flanking Active TSS	HSMMtube	muscle
11	chr1:226298800-226299800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:226298800-226299800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:226298800-226299800	Enhancers	Lung	lung
14	chr1:226298800-226299800	Enhancers	Stomach Mucosa	stomach
15	chr1:226298800-226300200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:226298800-226300400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
17	chr1:226298800-226300600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr1:226298800-226303800	Weak transcription	Ovary	ovary
19	chr1:226299000-226299800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
20	chr1:226299000-226299800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:226299000-226299800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:226299000-226299800	Enhancers	Primary T cells fromperipheralblood	blood
23	chr1:226299000-226299800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:226299000-226299800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:226299000-226299800	Enhancers	Brain Substantia Nigra	brain
26	chr1:226299000-226299800	Enhancers	Colonic Mucosa	Colon
27	chr1:226299000-226299800	Enhancers	Esophagus	oesophagus
28	chr1:226299000-226299800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:226299000-226299800	Enhancers	Placenta	Placenta
30	chr1:226299000-226299800	Enhancers	Gastric	stomach
31	chr1:226299000-226299800	Enhancers	Pancreas	Pancrea
32	chr1:226299000-226299800	Enhancers	Psoas Muscle	Psoas
33	chr1:226299000-226300000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:226299000-226300200	Enhancers	Fetal Muscle Trunk	muscle
35	chr1:226299000-226300200	Enhancers	Fetal Stomach	stomach
36	chr1:226299000-226300400	Enhancers	Brain Angular Gyrus	brain
37	chr1:226299000-226300400	Enhancers	Brain Anterior Caudate	brain
38	chr1:226299000-226300400	Enhancers	Fetal Brain Female	brain
39	chr1:226299000-226300400	Enhancers	Left Ventricle	heart
40	chr1:226299000-226300400	Enhancers	Right Atrium	heart
41	chr1:226299000-226300600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:226299000-226300600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:226299000-226300600	Enhancers	Brain Germinal Matrix	brain
44	chr1:226299000-226301000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:226299000-226301600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:226299000-226301800	Enhancers	Primary B cells from peripheral blood	blood
47	chr1:226299000-226303400	Weak transcription	NHEK	skin
48	chr1:226299000-226303800	Weak transcription	HMEC	breast
49	chr1:226299000-226308800	Weak transcription	A549	lung
50	chr1:226299200-226299800	Enhancers	Aorta	Aorta

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