Variant report

Variant	rs12547834
Chromosome Location	chr8:103661811-103661812
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103576876..103579568-chr8:103660206..103661932,2	K562	blood:
2	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
3	chr8:103656192..103659911-chr8:103661588..103665450,4	K562	blood:
4	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
5	chr8:103603451..103607129-chr8:103658621..103661960,3	MCF-7	breast:
6	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
7	chr8:103639826..103643166-chr8:103658941..103661983,3	K562	blood:
8	chr2:79067719..79069238-chr8:103661091..103662803,2	K562	blood:
9	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253669	Chromatin interaction

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

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

rs_ID	r²[population]
rs10955288	1.00[CEU][hapmap]
rs12544257	0.87[CEU][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546601	0.87[CEU][hapmap]
rs12674767	0.85[CEU][hapmap]
rs12680908	0.88[CEU][hapmap]
rs16869664	1.00[CEU][hapmap]
rs16869676	0.87[CEU][hapmap]
rs16869724	0.88[CEU][hapmap]
rs2436890	1.00[ASW][hapmap]
rs2511701	0.88[CEU][hapmap]
rs2511736	1.00[ASW][hapmap]
rs4734644	1.00[ASW][hapmap]
rs55634079	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55997601	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56131612	1.00[ASN][1000 genomes]
rs56280439	1.00[ASN][1000 genomes]
rs72683085	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72683086	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72683095	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72685135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs980112	0.88[CEU][hapmap]

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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103647000-103662000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:103647000-103662000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:103649800-103662000	Weak transcription	Fetal Stomach	stomach
4	chr8:103654000-103662200	Weak transcription	Gastric	stomach
5	chr8:103654400-103662000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:103656000-103662200	Weak transcription	Fetal Brain Female	brain
7	chr8:103656600-103662000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:103656800-103663200	Weak transcription	Fetal Brain Male	brain
9	chr8:103657000-103662000	Weak transcription	Thymus	Thymus
10	chr8:103658000-103662200	Weak transcription	Esophagus	oesophagus
11	chr8:103658000-103663200	Weak transcription	Fetal Heart	heart
12	chr8:103658200-103662000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:103658200-103662200	Weak transcription	Right Ventricle	heart
14	chr8:103658200-103662200	Weak transcription	Dnd41	blood
15	chr8:103658600-103662000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr8:103658800-103662000	Weak transcription	Small Intestine	intestine
17	chr8:103658800-103663200	Weak transcription	Stomach Mucosa	stomach
18	chr8:103658800-103663200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr8:103659200-103662800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:103659200-103663400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr8:103659400-103662200	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr8:103659400-103663800	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr8:103659600-103662000	Weak transcription	Colonic Mucosa	Colon
24	chr8:103659600-103662000	Strong transcription	Duodenum Mucosa	Duodenum
25	chr8:103659600-103662200	Strong transcription	Adipose Nuclei	Adipose
26	chr8:103659600-103663200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:103659600-103663400	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr8:103659600-103663400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:103659600-103664000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr8:103659800-103662000	Strong transcription	Liver	Liver
31	chr8:103659800-103662200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:103659800-103662200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr8:103659800-103662200	Strong transcription	Fetal Lung	lung
34	chr8:103659800-103662200	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr8:103659800-103662200	Strong transcription	Stomach Smooth Muscle	stomach
36	chr8:103659800-103662200	Genic enhancers	GM12878-XiMat	blood
37	chr8:103659800-103662200	Strong transcription	HSMM	muscle
38	chr8:103659800-103662400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:103659800-103662400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:103659800-103662400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:103659800-103662800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr8:103659800-103662800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:103659800-103663000	Strong transcription	Fetal Intestine Large	intestine
44	chr8:103659800-103663200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:103659800-103663200	Strong transcription	Primary T cells from cord blood	blood
46	chr8:103659800-103663200	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr8:103659800-103663200	Strong transcription	HUVEC	blood vessel
48	chr8:103659800-103663200	Strong transcription	NHDF-Ad	bronchial
49	chr8:103659800-103663200	Strong transcription	Osteobl	bone
50	chr8:103659800-103663400	Genic enhancers	A549	lung

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