Variant report

Variant	rs2301954
Chromosome Location	chr22:30973025-30973026
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 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

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	chr22:30972859..30974382-chr22:30975060..30976856,2	MCF-7	breast:
3	chr22:30972817..30975654-chr22:30976999..30979142,2	MCF-7	breast:
4	chr22:30965634..30968990-chr22:30972861..30974904,3	K562	blood:
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
ENSG00000128242	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12628099	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12628608	0.83[EUR][1000 genomes]
rs16988790	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34123894	0.95[AFR][1000 genomes];0.84[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	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	chr22:30970800-30975400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr22:30971000-30980800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr22:30971000-30985600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr22:30971000-30986000	Strong transcription	GM12878-XiMat	blood
10	chr22:30971000-30987200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr22:30971200-30973200	Genic enhancers	Gastric	stomach
12	chr22:30971200-30973600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr22:30971200-30973600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr22:30971200-30973600	Strong transcription	HMEC	breast
15	chr22:30971200-30985200	Strong transcription	Placenta Amnion	Placenta Amnion
16	chr22:30971200-30985200	Strong transcription	Dnd41	blood
17	chr22:30971200-30985400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
18	chr22:30971200-30985600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr22:30971200-30985600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr22:30971200-30985600	Strong transcription	Adipose Nuclei	Adipose
21	chr22:30971200-30986000	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr22:30971400-30973200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr22:30971400-30973200	Genic enhancers	Fetal Muscle Leg	muscle
24	chr22:30971400-30973200	Strong transcription	A549	lung
25	chr22:30971400-30973400	Genic enhancers	Rectal Mucosa Donor 31	rectum
26	chr22:30971400-30973600	Genic enhancers	Duodenum Mucosa	Duodenum
27	chr22:30971400-30985000	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr22:30971400-30985400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr22:30971400-30985600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr22:30971400-30985600	Strong transcription	Fetal Intestine Small	intestine
31	chr22:30971400-30985800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr22:30971400-30986000	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr22:30971400-30986200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr22:30971600-30973600	Strong transcription	Primary hematopoietic stem cells	blood
35	chr22:30971600-30976000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr22:30971600-30977800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:30971600-30978200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr22:30971600-30978200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
39	chr22:30971600-30978800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr22:30971600-30985400	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr22:30971600-30985600	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr22:30971600-30985600	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr22:30971600-30985600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr22:30971600-30985600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr22:30971600-30985600	Strong transcription	Fetal Thymus	thymus
46	chr22:30971600-30985600	Strong transcription	NH-A	brain
47	chr22:30971600-30985800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr22:30971600-30985800	Strong transcription	Fetal Intestine Large	intestine
49	chr22:30971600-30986000	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr22:30971600-30986000	Strong transcription	Primary B cells from peripheral blood	blood

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