Variant report

Variant	rs12484880
Chromosome Location	chr22:30751453-30751454
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:30751204-30751808	GM12892	blood:	n/a	n/a
2	POLR2A	chr22:30750048-30751795	GM12878	blood:	n/a	n/a
3	POLR2A	chr22:30751062-30751547	K562	blood:	n/a	n/a
4	POLR2A	chr22:30751154-30751795	GM12878	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30740000..30742543-chr22:30750600..30752817,3	MCF-7	breast:
2	chr22:30722006..30725049-chr22:30749886..30754508,5	K562	blood:
3	chr22:30736285..30738437-chr22:30751447..30754136,2	K562	blood:
4	chr22:30682051..30684043-chr22:30751437..30753247,3	MCF-7	breast:
5	chr22:30720936..30724991-chr22:30750350..30754449,10	MCF-7	breast:
6	chr22:30679588..30687274-chr22:30748772..30756086,11	MCF-7	breast:
7	chr22:30681963..30685470-chr22:30751422..30755510,6	K562	blood:
8	chr22:30750563..30752352-chr22:30759520..30761812,2	MCF-7	breast:
9	chr22:30719395..30724233-chr22:30750032..30754717,7	MCF-7	breast:
10	chr22:30681129..30691076-chr22:30751303..30759078,14	K562	blood:
11	chr22:30742977..30744840-chr22:30750667..30752552,2	K562	blood:
12	chr22:30750108..30752468-chr22:30775828..30777865,2	MCF-7	breast:
13	chr22:30736285..30738543-chr22:30751447..30754136,3	K562	blood:
14	chr22:30732348..30737677-chr22:30750921..30755238,7	MCF-7	breast:

No data

Variant related genes	Relation type
CCDC157	TF binding region
ENSG00000099995	Chromatin interaction
ENSG00000099992	Chromatin interaction
ENSG00000239282	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1476659	0.86[MEX][hapmap]
rs2286442	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs2299826	1.00[LWK][hapmap];0.87[MEX][hapmap];1.00[YRI][hapmap]
rs4473498	1.00[YRI][hapmap]
rs5763919	1.00[YRI][hapmap]
rs6006411	1.00[YRI][hapmap]
rs6006425	1.00[YRI][hapmap]
rs8140562	0.94[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv1066179	chr22:30724148-30766466	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30723600-30751600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:30742600-30751600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr22:30748800-30752000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:30749000-30751800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr22:30749000-30752000	Weak transcription	Aorta	Aorta
6	chr22:30749200-30752000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:30750000-30751600	Enhancers	Brain Cingulate Gyrus	brain
8	chr22:30750000-30751800	Enhancers	Left Ventricle	heart
9	chr22:30750200-30751600	Enhancers	Primary B cells from peripheral blood	blood
10	chr22:30750200-30751600	Enhancers	Esophagus	oesophagus
11	chr22:30750200-30751800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr22:30750200-30751800	Genic enhancers	Placenta	Placenta
13	chr22:30750200-30752000	Enhancers	Gastric	stomach
14	chr22:30750200-30752000	Enhancers	Lung	lung
15	chr22:30750200-30752000	Enhancers	Pancreas	Pancrea
16	chr22:30750200-30752000	Enhancers	Small Intestine	intestine
17	chr22:30750400-30751600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:30750400-30751600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr22:30750400-30751800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr22:30750400-30751800	Enhancers	Stomach Mucosa	stomach
21	chr22:30750600-30751600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr22:30750600-30751600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr22:30750600-30751600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr22:30750600-30751800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr22:30750600-30752200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr22:30750600-30752600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr22:30750600-30754400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr22:30750800-30751600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr22:30750800-30751600	Enhancers	Fetal Muscle Leg	muscle
30	chr22:30750800-30751800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr22:30750800-30751800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr22:30750800-30752000	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr22:30750800-30752000	Enhancers	Spleen	Spleen
34	chr22:30750800-30752200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr22:30750800-30752400	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr22:30750800-30752400	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr22:30751000-30751600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr22:30751000-30751800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr22:30751000-30752000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr22:30751000-30752000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr22:30751000-30752000	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr22:30751000-30752000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr22:30751000-30752400	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr22:30751000-30752400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr22:30751000-30752400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr22:30751200-30751600	Enhancers	Fetal Intestine Large	intestine
47	chr22:30751200-30751600	Enhancers	Fetal Muscle Trunk	muscle
48	chr22:30751200-30751800	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr22:30751200-30751800	Flanking Active TSS	Right Atrium	heart
50	chr22:30751200-30751800	Flanking Active TSS	GM12878-XiMat	blood

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