Variant report

Variant	rs55759431
Chromosome Location	chr8:131369345-131369346
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:131354832..131358250-chr8:131366944..131369534,3	MCF-7	breast:
2	chr8:131340477..131342836-chr8:131369281..131371407,2	K562	blood:
3	chr8:131273772..131275744-chr8:131368224..131371036,2	MCF-7	breast:
4	chr8:131367705..131370719-chr8:131454770..131456809,3	MCF-7	breast:
5	chr20:49345521..49347747-chr8:131368237..131370408,2	MCF-7	breast:
6	chr8:131308649..131310819-chr8:131367686..131370906,3	MCF-7	breast:
7	chr8:131340477..131343144-chr8:131369207..131371407,2	K562	blood:
8	chr8:131328726..131330955-chr8:131369323..131371352,2	MCF-7	breast:
9	chr8:131364073..131367147-chr8:131368498..131370803,3	MCF-7	breast:
10	chr8:131359135..131361082-chr8:131369216..131371676,2	MCF-7	breast:
11	chr8:131368827..131370582-chr8:131514661..131517339,2	MCF-7	breast:
12	chr8:131352326..131356339-chr8:131369333..131373155,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs16904265	1.00[EUR][1000 genomes]
rs16904266	1.00[EUR][1000 genomes]
rs55637017	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55642195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55686856	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55692599	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55758693	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55867508	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55871312	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55891945	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55961633	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55968438	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55979731	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56194038	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56241132	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56285703	0.91[EUR][1000 genomes]
rs56297697	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56308942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56313701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56323699	1.00[EUR][1000 genomes]
rs56336751	1.00[EUR][1000 genomes]
rs56349599	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56385215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56405390	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6993944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6994242	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6994477	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6998031	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7004723	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7005271	0.96[EUR][1000 genomes]
rs7462977	1.00[EUR][1000 genomes]
rs7815532	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7821742	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7836688	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv612285	chr8:131367481-131371055	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131355600-131369400	Weak transcription	Hela-S3	cervix
2	chr8:131359800-131369600	Weak transcription	Fetal Kidney	kidney
3	chr8:131360000-131369400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:131367200-131369400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:131367200-131369400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:131367200-131370000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr8:131367200-131371400	Active TSS	HSMMtube	muscle
8	chr8:131367400-131369400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
9	chr8:131367400-131369600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:131367600-131369400	Active TSS	NHLF	lung
11	chr8:131367800-131371600	Active TSS	HSMM	muscle
12	chr8:131368000-131369400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr8:131368000-131369400	Enhancers	HepG2	liver
14	chr8:131368000-131369600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr8:131368000-131370000	Flanking Active TSS	K562	blood
16	chr8:131368000-131370200	Flanking Active TSS	Dnd41	blood
17	chr8:131368000-131370400	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr8:131368200-131369600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr8:131368200-131370600	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr8:131368400-131369400	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:131368400-131369400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:131368400-131369600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:131368400-131369800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr8:131368400-131369800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr8:131368400-131369800	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr8:131368400-131369800	Genic enhancers	A549	lung
27	chr8:131368400-131370000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:131368400-131370000	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr8:131368400-131370000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr8:131368400-131370200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr8:131368400-131371600	Active TSS	Ovary	ovary
32	chr8:131368600-131369400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:131368600-131369400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr8:131368600-131369800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
35	chr8:131368600-131369800	Transcr. at gene 5' and 3'	HUVEC	blood vessel
36	chr8:131368600-131370000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr8:131368600-131370000	Flanking Active TSS	NH-A	brain
38	chr8:131368600-131370200	Flanking Active TSS	Thymus	Thymus
39	chr8:131368600-131370400	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr8:131368600-131370400	Flanking Active TSS	HMEC	breast
41	chr8:131368600-131371600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr8:131368800-131369400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr8:131368800-131369400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr8:131368800-131369400	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr8:131368800-131369400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr8:131368800-131369400	Enhancers	Stomach Mucosa	stomach
47	chr8:131368800-131369600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:131368800-131369600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:131368800-131369800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr8:131368800-131369800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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