Variant report

Variant	rs57205211
Chromosome Location	chr15:40798878-40798879
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:40798872-40799898	SK-N-SH	brain:	n/a	chr15:40799423-40799441

No.	Distal block	Cell Line	Cell type
1	chr15:40730539..40734458-chr15:40797952..40800684,3	K562	blood:
2	chr15:40761789..40767637-chr15:40797359..40801640,7	K562	blood:
3	chr15:40797354..40799146-chr15:40804664..40806260,2	MCF-7	breast:
4	chr15:40738741..40740672-chr15:40798310..40800042,2	K562	blood:
5	chr15:40797459..40799431-chr15:40802673..40805643,2	K562	blood:
6	chr15:40731663..40736686-chr15:40795056..40800792,8	K562	blood:

Variant related genes	Relation type
ENSG00000259536	TF binding region
ENSG00000140320	Chromatin interaction
ENSG00000169105	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs28588007	0.84[AFR][1000 genomes]
rs57834133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73384313	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73389072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73389084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7342634	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8040302	0.85[AFR][1000 genomes]
rs8042419	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]

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	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv832984	chr15:40794391-40998535	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40786600-40799200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:40793800-40799200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr15:40793800-40799200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:40793800-40799200	Weak transcription	HMEC	breast
5	chr15:40794000-40799000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr15:40794000-40799000	Weak transcription	NHEK	skin
7	chr15:40794000-40799200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:40798600-40799000	Enhancers	K562	blood
9	chr15:40798600-40799200	Enhancers	Fetal Intestine Small	intestine
10	chr15:40798600-40799200	Enhancers	Fetal Stomach	stomach
11	chr15:40798600-40799400	Flanking Active TSS	Fetal Lung	lung
12	chr15:40798800-40799000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr15:40798800-40799000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:40798800-40799000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:40798800-40799000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
16	chr15:40798800-40799000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:40798800-40799000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:40798800-40799000	Enhancers	Colon Smooth Muscle	Colon
19	chr15:40798800-40799000	Enhancers	Rectal Smooth Muscle	rectum
20	chr15:40798800-40799000	Enhancers	Stomach Smooth Muscle	stomach
21	chr15:40798800-40799000	Enhancers	A549	lung
22	chr15:40798800-40799000	Enhancers	Dnd41	blood
23	chr15:40798800-40799200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
24	chr15:40798800-40799200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr15:40798800-40799400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr15:40798800-40799400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr15:40798800-40799400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr15:40798800-40799400	Bivalent Enhancer	HepG2	liver
29	chr15:40798800-40799600	Enhancers	Fetal Heart	heart

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