Variant report

Variant	rs57430570
Chromosome Location	chr8:103328861-103328862
allele	A/C/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: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	chr8:103320253..103321987-chr8:103327488..103329177,2	MCF-7	breast:
2	chr8:103327893..103330442-chr8:103665150..103667023,2	MCF-7	breast:
3	chr8:103315506..103318243-chr8:103326156..103330411,3	MCF-7	breast:
4	chr8:103320694..103323615-chr8:103327057..103329412,3	K562	blood:
5	chr8:103321058..103323615-chr8:103327057..103329055,3	K562	blood:
6	chr8:103327228..103329926-chr8:103422908..103424806,2	MCF-7	breast:
7	chr8:103322301..103325413-chr8:103327690..103330553,4	MCF-7	breast:
8	chr8:103328642..103330645-chr8:103421922..103425963,5	MCF-7	breast:
9	chr8:103327670..103330678-chr8:103666795..103668657,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104517	Chromatin interaction
ENSG00000155090	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs28437931	1.00[AMR][1000 genomes]
rs55651645	1.00[AMR][1000 genomes]
rs55800274	1.00[AMR][1000 genomes]
rs55806827	1.00[AMR][1000 genomes]
rs56392012	1.00[AMR][1000 genomes]
rs56392440	1.00[AMR][1000 genomes]
rs58462905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58489155	1.00[AMR][1000 genomes]
rs58884526	1.00[AMR][1000 genomes]
rs59120811	1.00[AMR][1000 genomes]
rs59149565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59280608	1.00[AMR][1000 genomes]
rs59312502	1.00[AMR][1000 genomes]
rs59588939	1.00[AMR][1000 genomes]
rs60142605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60914912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61088533	1.00[AMR][1000 genomes]
rs61179172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61379180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61388020	1.00[AMR][1000 genomes]
rs61480994	1.00[AMR][1000 genomes]
rs61636997	1.00[AMR][1000 genomes]
rs6985752	1.00[AMR][1000 genomes]
rs7007727	1.00[AMR][1000 genomes]
rs73698398	1.00[AMR][1000 genomes]
rs73698402	1.00[AMR][1000 genomes]
rs73698721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73698726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73698730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73698732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73698734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73698739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73698741	1.00[AMR][1000 genomes]
rs73698744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73698745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73698746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73698786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73698787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73698790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73698799	1.00[AMR][1000 genomes]
rs73701117	1.00[AMR][1000 genomes]
rs73701120	1.00[AMR][1000 genomes]
rs7820662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7841168	1.00[AMR][1000 genomes]
rs7842176	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1018990	chr8:103207922-103357742	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539702	chr8:103207922-103357742	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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
7	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv528486	chr8:103279922-103373304	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv891244	chr8:103309862-103483466	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 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	chr8:103262600-103329800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:103266800-103329000	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:103267400-103329000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr8:103293800-103329200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:103299800-103329200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:103299800-103329200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:103300000-103329400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr8:103300000-103329800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr8:103300000-103330000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:103300200-103342800	Weak transcription	Stomach Mucosa	stomach
11	chr8:103300200-103343000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:103300600-103331600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:103304600-103329400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr8:103308000-103338200	Weak transcription	Gastric	stomach
15	chr8:103313600-103329400	Strong transcription	Fetal Thymus	thymus
16	chr8:103313600-103329600	Strong transcription	Primary B cells from peripheral blood	blood
17	chr8:103318200-103338200	Weak transcription	Aorta	Aorta
18	chr8:103318400-103329200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:103318800-103329800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:103319400-103343400	Weak transcription	Small Intestine	intestine
21	chr8:103320200-103329200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:103323200-103329200	Weak transcription	Fetal Intestine Small	intestine
23	chr8:103323200-103329400	Weak transcription	Esophagus	oesophagus
24	chr8:103323600-103338200	Weak transcription	Brain Angular Gyrus	brain
25	chr8:103323800-103338400	Weak transcription	Pancreas	Pancrea
26	chr8:103324200-103339200	Weak transcription	Fetal Kidney	kidney
27	chr8:103324600-103343600	Weak transcription	Fetal Brain Male	brain
28	chr8:103324800-103335600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr8:103324800-103338200	Weak transcription	Spleen	Spleen
30	chr8:103325000-103335400	Weak transcription	Fetal Heart	heart
31	chr8:103325400-103338400	Weak transcription	Colonic Mucosa	Colon
32	chr8:103325400-103338400	Weak transcription	Psoas Muscle	Psoas
33	chr8:103325600-103338200	Weak transcription	Ovary	ovary
34	chr8:103325600-103358200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:103325800-103338200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:103326000-103329000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:103326000-103335400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:103326000-103335400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:103326000-103336600	Weak transcription	NHDF-Ad	bronchial
40	chr8:103326000-103354000	Weak transcription	Lung	lung
41	chr8:103326200-103329200	Weak transcription	Fetal Stomach	stomach
42	chr8:103326200-103335400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:103326200-103335400	Weak transcription	Brain Anterior Caudate	brain
44	chr8:103326200-103336600	Weak transcription	Primary T cells from cord blood	blood
45	chr8:103326200-103337000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:103326200-103337000	Weak transcription	Brain Hippocampus Middle	brain
47	chr8:103326200-103337000	Weak transcription	NHLF	lung
48	chr8:103326200-103337200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr8:103326200-103338000	Weak transcription	HSMMtube	muscle
50	chr8:103326200-103338200	Weak transcription	Brain Cingulate Gyrus	brain

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