Variant report

Variant	rs5997605
Chromosome Location	chr22:30705279-30705280
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30704378..30708150-chr22:30709982..30712337,3	MCF-7	breast:
2	chr22:30702121..30703718-chr22:30704175..30706917,2	K562	blood:
3	chr22:30647129..30650015-chr22:30704235..30707328,3	MCF-7	breast:
4	chr22:30684642..30686207-chr22:30704282..30706035,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239282	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12106618	0.81[EUR][1000 genomes]
rs1860217	0.87[EUR][1000 genomes]
rs2074732	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2240422	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2283865	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28523826	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4820003	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5753083	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753092	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753093	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753109	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5997628	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7292744	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73390209	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs757870	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8138401	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1062388	chr22:30649179-30711443	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv984527	chr22:30698358-30732712	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30686200-30720000	Weak transcription	Fetal Brain Male	brain
2	chr22:30686800-30707200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr22:30687400-30706800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr22:30691000-30706800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr22:30695400-30706800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr22:30697400-30712200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr22:30698600-30705800	Enhancers	Colon Smooth Muscle	Colon
8	chr22:30698800-30705600	Weak transcription	Ovary	ovary
9	chr22:30698800-30707000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr22:30699200-30706200	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr22:30699600-30706200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr22:30699600-30715600	Weak transcription	Fetal Brain Female	brain
13	chr22:30699800-30705600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr22:30699800-30710000	Weak transcription	HepG2	liver
15	chr22:30699800-30711600	Enhancers	Stomach Mucosa	stomach
16	chr22:30700000-30710000	Enhancers	HMEC	breast
17	chr22:30700200-30712000	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr22:30700200-30712600	Enhancers	Primary hematopoietic stem cells	blood
19	chr22:30700400-30706200	Weak transcription	Brain Germinal Matrix	brain
20	chr22:30700400-30710000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr22:30700400-30714400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr22:30700600-30711200	Enhancers	Placenta	Placenta
23	chr22:30701000-30705400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr22:30701000-30706800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr22:30701400-30705600	Weak transcription	Fetal Heart	heart
26	chr22:30701400-30709200	Enhancers	Fetal Kidney	kidney
27	chr22:30701800-30706000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr22:30702000-30706200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr22:30702000-30706600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr22:30702000-30706600	Enhancers	Colonic Mucosa	Colon
31	chr22:30702000-30707400	Enhancers	NHEK	skin
32	chr22:30702200-30705800	Weak transcription	Brain Angular Gyrus	brain
33	chr22:30702200-30706000	Weak transcription	HSMMtube	muscle
34	chr22:30702200-30706400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr22:30702200-30706400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr22:30702200-30707000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr22:30702400-30706000	Enhancers	Rectal Smooth Muscle	rectum
38	chr22:30702400-30706200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr22:30702400-30706200	Enhancers	Duodenum Mucosa	Duodenum
40	chr22:30702400-30706200	Weak transcription	Hela-S3	cervix
41	chr22:30702400-30706600	Enhancers	Adipose Nuclei	Adipose
42	chr22:30702400-30707200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr22:30702600-30706000	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr22:30702600-30706800	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr22:30702600-30706800	Weak transcription	Fetal Intestine Large	intestine
46	chr22:30702800-30709200	Enhancers	Right Atrium	heart
47	chr22:30702800-30709400	Enhancers	Pancreas	Pancrea
48	chr22:30702800-30710200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr22:30702800-30712400	Enhancers	Left Ventricle	heart
50	chr22:30702800-30713000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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