Variant report

Variant	rs591448
Chromosome Location	chr1:78580221-78580222
allele	C/T
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:78366287..78367159-chr1:78579821..78580485,2	K562	blood:
2	chr1:78428375..78429154-chr1:78579795..78580540,2	MCF-7	breast:
3	chr1:78468899..78473761-chr1:78575076..78581804,16	K562	blood:
4	chr1:78521484..78522081-chr1:78580194..78580696,2	MCF-7	breast:
5	chr1:78580164..78582715-chr1:78584966..78587634,2	K562	blood:
6	chr1:78482811..78485381-chr1:78578750..78581100,2	K562	blood:
7	chr1:76619950..76620589-chr1:78579803..78580325,2	K562	blood:
8	chr1:78467852..78476620-chr1:78566212..78581721,30	K562	blood:
9	chr1:78414449..78415158-chr1:78579807..78580633,3	MCF-7	breast:
10	chr1:78414889..78415396-chr1:78579861..78580655,2	K562	blood:
11	chr1:78290738..78291244-chr1:78579762..78580640,2	MCF-7	breast:
12	chr1:78444622..78445852-chr1:78579780..78580682,4	MCF-7	breast:
13	chr1:78444942..78445521-chr1:78579870..78580404,2	MCF-7	breast:
14	chr1:78442786..78443510-chr1:78579652..78580579,4	MCF-7	breast:
15	chr1:78468823..78471289-chr1:78578841..78581270,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000162616	Chromatin interaction
ENSG00000162613	Chromatin interaction
ENSG00000273338	Chromatin interaction
ENSG00000137960	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1001070	0.82[YRI][hapmap]
rs10437022	0.82[YRI][hapmap]
rs11162400	0.82[YRI][hapmap]
rs1335481	0.82[YRI][hapmap]
rs1555798	0.82[YRI][hapmap]
rs17383213	0.82[YRI][hapmap]
rs17387365	0.82[YRI][hapmap]
rs2274257	0.82[YRI][hapmap]
rs2296453	0.82[YRI][hapmap]
rs573952	1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.97[ASN][1000 genomes]
rs621178	0.97[ASN][1000 genomes]
rs633580	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6424664	0.82[YRI][hapmap]
rs661038	0.82[YRI][hapmap]
rs6677890	0.82[YRI][hapmap]
rs6679026	0.88[EUR][1000 genomes]
rs7514007	0.82[YRI][hapmap]
rs7542998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv870608	chr1:78520822-78594286	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78555400-78608600	Weak transcription	Pancreas	Pancrea
2	chr1:78558600-78582800	Weak transcription	Fetal Intestine Large	intestine
3	chr1:78567000-78586800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:78567600-78607200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:78569800-78592600	Weak transcription	Spleen	Spleen
6	chr1:78570800-78589200	Weak transcription	Right Ventricle	heart
7	chr1:78577600-78584400	Weak transcription	Right Atrium	heart
8	chr1:78578200-78594200	Weak transcription	Left Ventricle	heart
9	chr1:78579600-78580800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:78580000-78584000	Weak transcription	Esophagus	oesophagus
11	chr1:78580000-78584400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:78580200-78581200	Weak transcription	Adipose Nuclei	Adipose
13	chr1:78580200-78583000	Weak transcription	Fetal Intestine Small	intestine
14	chr1:78580200-78585000	Weak transcription	Liver	Liver
15	chr1:78580200-78585600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:78580200-78585800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:78580200-78587400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:78580200-78591000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:78580200-78598000	Weak transcription	Aorta	Aorta
20	chr1:78580200-78608600	Weak transcription	HepG2	liver

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