Variant report

Variant	rs13250469
Chromosome Location	chr8:131142067-131142068
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131140935..131143868-chr8:131153030..131155718,2	K562	blood:
2	chr8:131141533..131142136-chr8:131314383..131315223,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13278110	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1549454	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17196525	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17209339	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2045093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28407848	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28752214	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35713491	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs36065517	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3871	0.90[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs4733773	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4733774	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6988276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7387355	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7813123	0.91[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs7843126	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7846662	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.87[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	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131076200-131170600	Weak transcription	Small Intestine	intestine
2	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:131118400-131143600	Weak transcription	Stomach Mucosa	stomach
4	chr8:131124800-131145800	Weak transcription	Right Ventricle	heart
5	chr8:131125600-131143600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:131125800-131151800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:131128000-131143600	Weak transcription	Aorta	Aorta
8	chr8:131128000-131143600	Weak transcription	Pancreas	Pancrea
9	chr8:131128200-131154800	Weak transcription	Colonic Mucosa	Colon
10	chr8:131128800-131147200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr8:131128800-131186800	Weak transcription	Fetal Brain Male	brain
12	chr8:131129200-131144400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:131129200-131147200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:131130400-131180200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr8:131130800-131146000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:131132600-131143000	Weak transcription	Fetal Intestine Small	intestine
17	chr8:131133000-131143600	Weak transcription	Esophagus	oesophagus
18	chr8:131133000-131147000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:131134200-131142600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:131135600-131147200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:131137600-131146000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr8:131137600-131154800	Weak transcription	Psoas Muscle	Psoas
23	chr8:131138400-131146400	Strong transcription	HSMM	muscle
24	chr8:131138800-131146400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:131138800-131164600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr8:131139000-131156000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr8:131139200-131142600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr8:131139200-131146000	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr8:131139200-131146000	Weak transcription	Hela-S3	cervix
30	chr8:131139200-131146200	Strong transcription	Osteobl	bone
31	chr8:131139400-131144000	Weak transcription	Brain Substantia Nigra	brain
32	chr8:131139400-131147200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:131139600-131143800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr8:131140000-131143600	Weak transcription	Brain Germinal Matrix	brain
35	chr8:131140000-131143800	Weak transcription	Ovary	ovary
36	chr8:131140000-131144800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:131140000-131147000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr8:131140000-131148000	Weak transcription	Fetal Heart	heart
39	chr8:131140000-131156400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr8:131140000-131169200	Weak transcription	Brain Angular Gyrus	brain
41	chr8:131140200-131143000	Weak transcription	GM12878-XiMat	blood
42	chr8:131140200-131143400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:131140200-131143600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr8:131140200-131144000	Weak transcription	Brain Hippocampus Middle	brain
45	chr8:131140200-131144200	Weak transcription	Brain Anterior Caudate	brain
46	chr8:131140200-131144200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr8:131140200-131144200	Weak transcription	Fetal Brain Female	brain
48	chr8:131140200-131144200	Weak transcription	Fetal Thymus	thymus
49	chr8:131140200-131144400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr8:131140200-131144600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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