Variant report

Variant	rs56319623
Chromosome Location	chr5:118637058-118637059
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118605019..118607417-chr5:118636347..118638717,3	MCF-7	breast:
2	chr5:118635852..118637512-chr5:118646502..118648651,2	K562	blood:
3	chr5:118636247..118638488-chr5:118660209..118662344,2	K562	blood:
4	chr5:118636676..118639200-chr5:118642747..118645465,2	MCF-7	breast:
5	chr5:118634440..118637446-chr5:118640302..118642986,4	K562	blood:
6	chr5:118603356..118604946-chr5:118636631..118638796,2	K562	blood:

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction
ENSG00000243333	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10519575	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10519576	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10519581	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17145135	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58131651	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60599743	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67186626	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6879962	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6892643	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6892980	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72786106	0.95[ASN][1000 genomes]
rs72786107	0.95[EUR][1000 genomes]
rs72786113	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72786116	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72786118	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72786120	0.95[ASN][1000 genomes]
rs72786122	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72786125	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73248971	0.93[EUR][1000 genomes]
rs73794107	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73794110	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7701688	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118625400-118637200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:118628000-118637200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:118628000-118637800	Weak transcription	Aorta	Aorta
4	chr5:118628000-118641000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:118635000-118638600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:118635400-118638200	Enhancers	Dnd41	blood
7	chr5:118635400-118643800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr5:118635600-118640800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr5:118635800-118637600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:118635800-118638200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr5:118635800-118639000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:118635800-118639000	Enhancers	Osteobl	bone
13	chr5:118635800-118640600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:118635800-118641000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr5:118635800-118641400	Enhancers	Thymus	Thymus
16	chr5:118636000-118638200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr5:118636000-118639000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:118636000-118640000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr5:118636000-118640800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:118636000-118641400	Enhancers	NHEK	skin
21	chr5:118636000-118641800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:118636200-118638800	Enhancers	HepG2	liver
23	chr5:118636200-118639000	Enhancers	Fetal Thymus	thymus
24	chr5:118636200-118640200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:118636200-118644000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr5:118636400-118637800	Weak transcription	Stomach Mucosa	stomach
27	chr5:118636400-118638400	Enhancers	K562	blood
28	chr5:118636400-118638600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr5:118636400-118640800	Enhancers	NHDF-Ad	bronchial
30	chr5:118636400-118644200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr5:118636400-118647000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr5:118636600-118637200	Enhancers	Small Intestine	intestine
33	chr5:118636600-118637400	Enhancers	Placenta	Placenta
34	chr5:118636600-118637600	Enhancers	A549	lung
35	chr5:118636600-118638400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:118636600-118638600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr5:118636600-118638600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr5:118636600-118638600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr5:118636600-118641400	Enhancers	Primary B cells from peripheral blood	blood
40	chr5:118636800-118637600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr5:118636800-118637800	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr5:118636800-118638200	Enhancers	Hela-S3	cervix
43	chr5:118636800-118638400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:118636800-118638400	Weak transcription	GM12878-XiMat	blood
45	chr5:118636800-118638600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:118636800-118639000	Weak transcription	Pancreas	Pancrea
47	chr5:118636800-118640000	Enhancers	Primary B cells from cord blood	blood
48	chr5:118636800-118641800	Enhancers	HMEC	breast
49	chr5:118637000-118637600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr5:118637000-118637800	Enhancers	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links