Variant report

Variant	rs2760470
Chromosome Location	chr1:59291027-59291028
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:59279353..59283854-chr1:59287313..59291525,6	MCF-7	breast:
2	chr1:59280920..59283588-chr1:59288340..59291242,3	MCF-7	breast:
3	chr1:59248663..59251846-chr1:59288287..59291612,4	K562	blood:
4	chr1:59283313..59285516-chr1:59290081..59292276,2	K562	blood:
5	chr1:59290642..59292329-chr1:59373188..59375440,2	MCF-7	breast:
6	chr1:59289160..59291786-chr1:59314233..59317112,2	MCF-7	breast:
7	chr1:59244239..59251448-chr1:59284709..59292858,10	K562	blood:
8	chr1:59247664..59250907-chr1:59288388..59292446,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000177606	Chromatin interaction
ENSG00000234807	Chromatin interaction
ENSG00000231740	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1575440	1.00[LWK][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005354	chr1:59283572-59535812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1014087	chr1:59286306-59334393	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59282400-59293800	Weak transcription	Aorta	Aorta
2	chr1:59283000-59291800	Weak transcription	Primary T cells from cord blood	blood
3	chr1:59283200-59293600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:59288600-59291800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:59288600-59291800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:59288600-59291800	Enhancers	HMEC	breast
7	chr1:59288800-59292400	Enhancers	NHEK	skin
8	chr1:59289000-59292200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:59289400-59291600	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr1:59289600-59291600	Enhancers	Esophagus	oesophagus
11	chr1:59289800-59292400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:59290000-59292000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:59290400-59291200	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr1:59290400-59291800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr1:59290400-59292600	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:59290400-59293800	Weak transcription	Gastric	stomach
17	chr1:59290800-59291800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:59291000-59291600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:59291000-59291800	Enhancers	Hela-S3	cervix
20	chr1:59291000-59292400	Weak transcription	Psoas Muscle	Psoas
21	chr1:59291000-59292400	Weak transcription	Osteobl	bone
22	chr1:59291000-59293800	Weak transcription	Left Ventricle	heart
23	chr1:59291000-59295800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:59291000-59296200	Weak transcription	Ovary	ovary
25	chr1:59291000-59298400	Weak transcription	Placenta Amnion	Placenta Amnion

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