Variant report

Variant	rs185548309
Chromosome Location	chr1:85070716-85070717
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:84886211..84887078-chr1:85070133..85071055,2	K562	blood:
2	chr1:84907597..84908564-chr1:85069976..85070920,6	K562	blood:
3	chr1:85070056..85070847-chr1:85218987..85219628,2	K562	blood:
4	chr1:85038959..85041198-chr1:85070414..85071999,2	K562	blood:

Variant related genes	Relation type
ENSG00000117151	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv3364770	chr1:85069339-85078334	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85069600-85077400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:85070000-85070800	Weak transcription	Right Ventricle	heart
3	chr1:85070200-85071200	ZNF genes & repeats	Brain Anterior Caudate	brain
4	chr1:85070200-85071400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
5	chr1:85070200-85072000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:85070200-85077400	Weak transcription	Fetal Heart	heart
7	chr1:85070400-85070800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:85070400-85070800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:85070400-85070800	Flanking Active TSS	Colon Smooth Muscle	Colon
10	chr1:85070400-85070800	Enhancers	Rectal Smooth Muscle	rectum
11	chr1:85070400-85070800	Enhancers	HMEC	breast
12	chr1:85070400-85070800	Enhancers	HUVEC	blood vessel
13	chr1:85070400-85070800	Enhancers	NHDF-Ad	bronchial
14	chr1:85070400-85070800	Enhancers	NHEK	skin
15	chr1:85070400-85071000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:85070400-85071000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:85070400-85071000	Enhancers	K562	blood
18	chr1:85070400-85071200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr1:85070400-85071600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:85070400-85072000	ZNF genes & repeats	Liver	Liver
21	chr1:85070400-85079600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:85070400-85085200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:85070600-85070800	Enhancers	Osteobl	bone
24	chr1:85070600-85071000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr1:85070600-85071200	Enhancers	Stomach Smooth Muscle	stomach
26	chr1:85070600-85071200	Enhancers	Hela-S3	cervix
27	chr1:85070600-85071600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:85070600-85071800	ZNF genes & repeats	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links