Variant report

Variant	rs11912660
Chromosome Location	chr22:30972409-30972410
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:30970774-30973067	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr22:30970970-30972658	K562	blood:	n/a	n/a
3	POLR2A	chr22:30972244-30972464	K562	blood:	n/a	n/a
4	USF2	chr22:30972332-30972459	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr22:30970689-30972410	GM12892	blood:	n/a	n/a
6	POLR2A	chr22:30970664-30972633	GM12878	blood:	n/a	n/a
7	POLR2A	chr22:30970748-30972829	K562	blood:	n/a	n/a
8	POLR2A	chr22:30972202-30972479	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr22:30972317-30972616	K562	blood:	n/a	n/a
10	POLR2A	chr22:30972128-30972427	PFSK-1	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30969461..30973158-chr22:30985013..30988022,5	MCF-7	breast:
2	chr22:30964660..30967632-chr22:30970789..30972723,2	MCF-7	breast:
3	chr22:30970968..30972609-chr22:30985302..30987086,2	K562	blood:
4	chr22:30964568..30966833-chr22:30970828..30972723,3	MCF-7	breast:
5	chr22:30968228..30973884-chr22:30985019..30988219,5	MCF-7	breast:

No data

Variant related genes	Relation type
GAL3ST1	TF binding region
ENSG00000100029	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12484511	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4820017	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4820879	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73881478	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73881482	0.97[AMR][1000 genomes];1.00[EUR][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	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	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
3	nsv588887	chr22:30953521-30995356	Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr22:30964400-30979600	Weak transcription	K562	blood
2	chr22:30970000-30977200	Weak transcription	Hela-S3	cervix
3	chr22:30970400-30975000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr22:30970400-30975600	Weak transcription	Fetal Brain Male	brain
5	chr22:30970400-30983200	Weak transcription	Fetal Kidney	kidney
6	chr22:30970800-30973000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr22:30970800-30973000	Enhancers	Stomach Mucosa	stomach
8	chr22:30970800-30975400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr22:30971000-30973000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr22:30971000-30973000	ZNF genes & repeats	Spleen	Spleen
11	chr22:30971000-30980800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr22:30971000-30985600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr22:30971000-30986000	Strong transcription	GM12878-XiMat	blood
14	chr22:30971000-30987200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr22:30971200-30972600	Weak transcription	HepG2	liver
16	chr22:30971200-30973200	Genic enhancers	Gastric	stomach
17	chr22:30971200-30973600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr22:30971200-30973600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr22:30971200-30973600	Strong transcription	HMEC	breast
20	chr22:30971200-30985200	Strong transcription	Placenta Amnion	Placenta Amnion
21	chr22:30971200-30985200	Strong transcription	Dnd41	blood
22	chr22:30971200-30985400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
23	chr22:30971200-30985600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr22:30971200-30985600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr22:30971200-30985600	Strong transcription	Adipose Nuclei	Adipose
26	chr22:30971200-30986000	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr22:30971400-30973000	ZNF genes & repeats	Lung	lung
28	chr22:30971400-30973000	Genic enhancers	Rectal Mucosa Donor 29	rectum
29	chr22:30971400-30973200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr22:30971400-30973200	Genic enhancers	Fetal Muscle Leg	muscle
31	chr22:30971400-30973200	Strong transcription	A549	lung
32	chr22:30971400-30973400	Genic enhancers	Rectal Mucosa Donor 31	rectum
33	chr22:30971400-30973600	Genic enhancers	Duodenum Mucosa	Duodenum
34	chr22:30971400-30985000	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr22:30971400-30985400	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr22:30971400-30985600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr22:30971400-30985600	Strong transcription	Fetal Intestine Small	intestine
38	chr22:30971400-30985800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr22:30971400-30986000	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr22:30971400-30986200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr22:30971600-30972600	Genic enhancers	Muscle Satellite Cultured Cells	--
42	chr22:30971600-30972600	Genic enhancers	Brain Hippocampus Middle	brain
43	chr22:30971600-30972600	Genic enhancers	Placenta	Placenta
44	chr22:30971600-30973000	Genic enhancers	Pancreas	Pancrea
45	chr22:30971600-30973000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
46	chr22:30971600-30973600	Strong transcription	Primary hematopoietic stem cells	blood
47	chr22:30971600-30976000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr22:30971600-30977800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr22:30971600-30978200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr22:30971600-30978200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland

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