Variant report

Variant	rs6471511
Chromosome Location	chr8:96100015-96100016
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95906412..95908805-chr8:96098165..96100293,2	MCF-7	breast:
2	chr8:96095758..96103345-chr8:96144049..96152228,17	MCF-7	breast:
3	chr8:96097741..96100033-chr8:96272742..96274690,2	MCF-7	breast:
4	chr8:96096484..96101537-chr8:96142870..96147410,9	MCF-7	breast:
5	chr8:96097941..96100243-chr8:97273935..97276169,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TP53INP1-2	chr8:96099874-96100152	ENSG00000254248.1

Variant related genes	Relation type
ENSG00000175305	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000156471	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10087402	1.00[ASN][1000 genomes]
rs10089123	1.00[ASN][1000 genomes]
rs12544717	0.91[ASN][1000 genomes]
rs13261505	0.84[ASN][1000 genomes]
rs71504377	0.93[ASN][1000 genomes]
rs71504378	0.93[ASN][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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv891205	chr8:96062601-96115476	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
5	nsv891206	chr8:96092251-96115476	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96080200-96101800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:96097600-96100800	Enhancers	Placenta	Placenta
3	chr8:96098000-96100800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr8:96098000-96100800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr8:96098200-96100200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:96098200-96100800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr8:96098400-96100200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:96098400-96101800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:96098400-96102400	Weak transcription	Stomach Mucosa	stomach
10	chr8:96098600-96100200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:96098600-96101800	Weak transcription	Gastric	stomach
12	chr8:96098600-96101800	Weak transcription	HUVEC	blood vessel
13	chr8:96098600-96102000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr8:96098600-96102200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:96098600-96102200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:96098600-96102400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr8:96098600-96111600	Weak transcription	Pancreas	Pancrea
18	chr8:96098800-96102000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:96098800-96102200	Weak transcription	Thymus	Thymus
20	chr8:96098800-96102400	Weak transcription	Dnd41	blood
21	chr8:96098800-96103800	Weak transcription	HepG2	liver
22	chr8:96099200-96100200	Weak transcription	Lung	lung
23	chr8:96099200-96100600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:96099200-96100800	Enhancers	Primary B cells from peripheral blood	blood
25	chr8:96099400-96100200	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr8:96099400-96100200	Weak transcription	Colonic Mucosa	Colon
27	chr8:96099600-96100400	Enhancers	Duodenum Mucosa	Duodenum
28	chr8:96099600-96100400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr8:96099600-96100400	Flanking Active TSS	NHEK	skin
30	chr8:96099600-96100600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:96099600-96101800	Enhancers	GM12878-XiMat	blood
32	chr8:96099800-96100200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr8:96099800-96100400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:96099800-96100800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:96099800-96100800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:96099800-96101600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:96100000-96100400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:96100000-96100400	Enhancers	Adipose Nuclei	Adipose
39	chr8:96100000-96100600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr8:96100000-96100600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:96100000-96100600	Enhancers	Primary B cells from cord blood	blood
42	chr8:96100000-96100600	Enhancers	Spleen	Spleen
43	chr8:96100000-96100800	Enhancers	Esophagus	oesophagus
44	chr8:96100000-96100800	Enhancers	Fetal Thymus	thymus
45	chr8:96100000-96100800	Enhancers	Hela-S3	cervix
46	chr8:96100000-96100800	Enhancers	HMEC	breast
47	chr8:96100000-96101800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:96100000-96101800	Enhancers	K562	blood
49	chr8:96100000-96104200	Enhancers	Primary monocytes fromperipheralblood	blood

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