Variant report

Variant	rs4943014
Chromosome Location	chr13:52212164-52212165
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:52025930..52028470-chr13:52210026..52212649,2	K562	blood:
2	chr13:52024414..52026903-chr13:52211853..52213617,2	MCF-7	breast:
3	chr13:52022170..52025698-chr13:52211557..52214174,3	MCF-7	breast:
4	chr13:52025659..52027430-chr13:52210026..52212252,2	K562	blood:

Variant related genes	Relation type
ENSG00000236778	Chromatin interaction
ENSG00000102786	Chromatin interaction
ENSG00000224892	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1885855	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1923874	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4456399	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4533167	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4943008	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6561644	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7320201	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7327107	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7984225	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7988297	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7990679	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9285179	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9526792	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9535716	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9535720	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs992583	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832612	chr13:52176983-52362525	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52194800-52217600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr13:52197600-52212400	Weak transcription	Fetal Kidney	kidney
3	chr13:52198600-52217600	Weak transcription	Fetal Thymus	thymus
4	chr13:52202800-52217600	Weak transcription	Fetal Stomach	stomach
5	chr13:52203000-52213600	Weak transcription	Colon Smooth Muscle	Colon
6	chr13:52205200-52212200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr13:52205200-52214600	Enhancers	Brain Substantia Nigra	brain
8	chr13:52207200-52212400	Weak transcription	Hela-S3	cervix
9	chr13:52207200-52212600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr13:52207200-52218400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr13:52207600-52212200	Weak transcription	HSMMtube	muscle
12	chr13:52207600-52214600	Enhancers	Brain Cingulate Gyrus	brain
13	chr13:52207600-52217000	Weak transcription	Adipose Nuclei	Adipose
14	chr13:52207600-52220200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr13:52207800-52214600	Enhancers	Brain Hippocampus Middle	brain
16	chr13:52207800-52217400	Weak transcription	Brain Germinal Matrix	brain
17	chr13:52208200-52220000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:52209200-52214000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr13:52209400-52212200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr13:52209400-52212400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr13:52209400-52213000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr13:52209400-52213400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr13:52209400-52214200	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr13:52209600-52213200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr13:52209600-52213800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr13:52209600-52218800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr13:52209800-52212800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr13:52209800-52217400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr13:52210000-52214000	Enhancers	Brain Anterior Caudate	brain
30	chr13:52210000-52214800	Enhancers	Brain Angular Gyrus	brain
31	chr13:52210000-52217400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr13:52210200-52213600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr13:52210200-52213600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr13:52210200-52213800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr13:52210200-52217400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr13:52210400-52212200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr13:52210400-52212200	Enhancers	HSMM	muscle
38	chr13:52210400-52212400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr13:52210400-52212600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr13:52210400-52213000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr13:52210400-52213000	Enhancers	Ovary	ovary
42	chr13:52210400-52213600	Enhancers	Fetal Lung	lung
43	chr13:52210400-52213600	Enhancers	NHDF-Ad	bronchial
44	chr13:52210400-52214200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr13:52210400-52214400	Enhancers	Osteobl	bone
46	chr13:52210400-52216800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr13:52210400-52217600	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr13:52210600-52213000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr13:52210600-52215600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr13:52210600-52215600	Enhancers	NHEK	skin

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