Variant report

Variant	rs9595857
Chromosome Location	chr13:48735981-48735982
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12100070	0.92[EUR][1000 genomes]
rs13378199	1.00[EUR][1000 genomes]
rs13378726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4448832	1.00[EUR][1000 genomes]
rs9316366	1.00[EUR][1000 genomes]
rs9591142	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9595854	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9595869	1.00[EUR][1000 genomes]
rs9595872	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1047140	chr13:48703732-48765860	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv541767	chr13:48703732-48765860	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48724200-48738200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr13:48732400-48736000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:48732400-48738000	Enhancers	Adipose Nuclei	Adipose
4	chr13:48732600-48737000	Enhancers	Primary hematopoietic stem cells	blood
5	chr13:48733200-48736000	Weak transcription	Fetal Lung	lung
6	chr13:48733800-48738800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:48734000-48736200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr13:48734000-48736600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr13:48734000-48739000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:48734200-48736600	Enhancers	HUVEC	blood vessel
11	chr13:48734400-48736000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr13:48734400-48736000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr13:48734400-48736200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr13:48734400-48736200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr13:48734400-48737400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr13:48734600-48736000	Enhancers	Stomach Mucosa	stomach
17	chr13:48734600-48737800	Weak transcription	Colon Smooth Muscle	Colon
18	chr13:48734800-48736000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr13:48734800-48736200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr13:48734800-48736400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr13:48734800-48736400	Enhancers	Brain Anterior Caudate	brain
22	chr13:48734800-48736800	Enhancers	K562	blood
23	chr13:48734800-48737400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr13:48735000-48738000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr13:48735200-48736000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr13:48735200-48736200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr13:48735200-48736200	Enhancers	Fetal Muscle Leg	muscle
28	chr13:48735200-48737000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:48735400-48736200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr13:48735400-48736200	Enhancers	Esophagus	oesophagus
31	chr13:48735400-48736200	Enhancers	Lung	lung
32	chr13:48735400-48736200	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr13:48735400-48736200	Enhancers	Right Atrium	heart
34	chr13:48735400-48737200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr13:48735400-48743600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr13:48735600-48736000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr13:48735600-48736600	Enhancers	Primary B cells from cord blood	blood
38	chr13:48735600-48738000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr13:48735600-48738800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr13:48735600-48739000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr13:48735800-48736000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr13:48735800-48736200	Enhancers	Brain Substantia Nigra	brain
43	chr13:48735800-48736800	Enhancers	Primary B cells from peripheral blood	blood
44	chr13:48735800-48740600	Weak transcription	NHEK	skin
45	chr13:48735800-48740800	Weak transcription	HMEC	breast

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