Variant report

Variant	rs4968453
Chromosome Location	chr17:59955887-59955888
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:59953671..59956476-chr20:55839261..55843033,4	MCF-7	breast:
2	chr17:59955749..59958529-chr20:52564556..52567164,2	MCF-7	breast:
3	chr17:58577556..58579736-chr17:59953483..59956021,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226308	Chromatin interaction
ENSG00000101144	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10515212	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11652477	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11654581	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11656805	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12452044	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12452396	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17542001	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17614124	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2066962	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56267713	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56294609	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56391142	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58426748	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7223607	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72843728	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72843731	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72843735	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72843752	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72843757	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8075585	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8076727	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8076746	0.85[AMR][1000 genomes];0.88[EUR][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	esv3378293	chr17:59744117-60124899	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv916786	chr17:59890834-60103687	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59941200-59957000	Weak transcription	Spleen	Spleen
2	chr17:59941200-59964600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr17:59941400-59957000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr17:59941400-59957600	Weak transcription	Gastric	stomach
5	chr17:59941400-59965400	Weak transcription	Lung	lung
6	chr17:59941400-59975000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr17:59941400-60004400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:59941400-60004400	Weak transcription	Aorta	Aorta
9	chr17:59941400-60004400	Weak transcription	Pancreas	Pancrea
10	chr17:59941600-59957000	Weak transcription	Esophagus	oesophagus
11	chr17:59941600-59957000	Weak transcription	Thymus	Thymus
12	chr17:59941600-59965200	Weak transcription	Psoas Muscle	Psoas
13	chr17:59941600-59965400	Weak transcription	Brain Substantia Nigra	brain
14	chr17:59941600-59965600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr17:59941600-59966800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr17:59941600-59979600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr17:59941600-59987600	Weak transcription	Right Ventricle	heart
18	chr17:59941600-60003600	Weak transcription	Stomach Mucosa	stomach
19	chr17:59941600-60004400	Weak transcription	Colonic Mucosa	Colon
20	chr17:59941800-59957000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr17:59941800-59960000	Weak transcription	NHEK	skin
22	chr17:59941800-59961000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr17:59941800-59967000	Weak transcription	Fetal Brain Male	brain
24	chr17:59941800-59968800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr17:59941800-59969200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr17:59941800-59971800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr17:59941800-59979200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr17:59941800-59979200	Weak transcription	Brain Angular Gyrus	brain
29	chr17:59942600-60002800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr17:59943600-59962200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr17:59943600-59989600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr17:59943800-59956800	Strong transcription	HSMM	muscle
33	chr17:59944400-59962600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr17:59944400-59970000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr17:59944600-59962600	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr17:59944600-59967600	Strong transcription	HepG2	liver
37	chr17:59946600-59959600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr17:59946600-59989200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr17:59947400-59977400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr17:59948000-59964000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr17:59948000-59965400	Weak transcription	Ovary	ovary
42	chr17:59948000-59972600	Weak transcription	NHDF-Ad	bronchial
43	chr17:59948000-59981800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr17:59948200-59980600	Weak transcription	HMEC	breast
45	chr17:59948200-59986800	Weak transcription	Fetal Kidney	kidney
46	chr17:59949200-59963600	Weak transcription	Fetal Lung	lung
47	chr17:59949200-59963800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr17:59949400-59963800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr17:59949400-59966800	Weak transcription	NH-A	brain
50	chr17:59949800-59957000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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