Variant report

Variant	rs10481442
Chromosome Location	chr8:19294464-19294465
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:19243844..19246567-chr8:19293989..19296089,2	MCF-7	breast:
2	chr8:19293307..19294903-chr8:19674253..19676583,2	MCF-7	breast:
3	chr8:19291426..19297066-chr8:19613560..19616648,5	MCF-7	breast:
4	chr8:19288913..19291060-chr8:19294444..19296312,2	MCF-7	breast:
5	chr8:19270684..19272209-chr8:19293984..19296065,2	MCF-7	breast:
6	chr8:19275219..19277107-chr8:19294224..19297306,3	MCF-7	breast:
7	chr8:19283299..19285964-chr8:19292652..19294945,2	MCF-7	breast:
8	chr8:19277038..19281251-chr8:19291957..19296139,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104613	Chromatin interaction
ENSG00000147408	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10090079	1.00[AFR][1000 genomes]
rs10096485	0.83[AFR][1000 genomes]
rs17128428	1.00[AFR][1000 genomes]
rs17128520	0.91[AFR][1000 genomes]
rs28491635	0.83[AFR][1000 genomes]
rs28558362	1.00[AFR][1000 genomes]
rs28607676	0.83[AFR][1000 genomes]
rs28872331	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015395	chr8:18489538-19370258	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv429907	chr8:18578720-19398220	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv949745	chr8:18826830-19363963	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1016482	chr8:18834807-19339487	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1016993	chr8:18855623-19311731	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	esv3693374	chr8:19241970-19359184	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
11	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
12	nsv610752	chr8:19254816-19311496	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv1022344	chr8:19270143-19324083	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19267200-19297000	Weak transcription	Brain Substantia Nigra	brain
2	chr8:19267800-19295600	Weak transcription	Brain Hippocampus Middle	brain
3	chr8:19271800-19305200	Weak transcription	Pancreas	Pancrea
4	chr8:19275800-19295600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr8:19277600-19295600	Weak transcription	Hela-S3	cervix
6	chr8:19277600-19307800	Weak transcription	Fetal Stomach	stomach
7	chr8:19277800-19300200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr8:19278000-19304800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:19281800-19296800	Weak transcription	Lung	lung
10	chr8:19282400-19294800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:19283800-19294800	Weak transcription	Left Ventricle	heart
12	chr8:19283800-19302200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr8:19283800-19307800	Weak transcription	Ovary	ovary
14	chr8:19284000-19302400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:19284200-19294600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:19284200-19300000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr8:19284800-19297000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr8:19285000-19296200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr8:19285000-19297000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr8:19288800-19296200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr8:19290400-19297600	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr8:19290800-19294600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr8:19291200-19297600	Strong transcription	Primary B cells from cord blood	blood
24	chr8:19291600-19295600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:19291600-19308000	Weak transcription	Right Ventricle	heart
26	chr8:19291800-19294600	Weak transcription	Placenta	Placenta
27	chr8:19292600-19301400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr8:19293000-19296400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr8:19294000-19297400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr8:19294400-19294600	Genic enhancers	A549	lung
31	chr8:19294400-19296000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:19294400-19297400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr8:19294400-19297400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:19294400-19297600	Strong transcription	Primary T cells from cord blood	blood

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