Variant report

Variant	rs6966949
Chromosome Location	chr7:101151552-101151553
allele	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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100925438..100926806-chr7:101150747..101151857,4	MCF-7	breast:
2	chr7:101151201..101151770-chr7:101181797..101182747,2	MCF-7	breast:
3	chr7:101006908..101008057-chr7:101150804..101151679,7	MCF-7	breast:
4	chr7:100965050..100966058-chr7:101150850..101151645,3	MCF-7	breast:
5	chr7:101006510..101007838-chr7:101150604..101151700,15	MCF-7	breast:
6	chr7:101100597..101102046-chr7:101150673..101151702,7	MCF-7	breast:
7	chr7:100958537..100959278-chr7:101150993..101151712,3	MCF-7	breast:
8	chr7:101006811..101007905-chr7:101150693..101151800,11	K562	blood:
9	chr7:101150080..101152879-chr7:101154593..101156127,2	K562	blood:
10	chr7:101005024..101007220-chr7:101150535..101153379,2	MCF-7	breast:
11	chr7:101100607..101102049-chr7:101150824..101151606,9	MCF-7	breast:
12	chr7:100933411..100934409-chr7:101150803..101151635,3	K562	blood:
13	chr7:100958176..100959175-chr7:101150758..101151564,2	MCF-7	breast:
14	chr7:100964862..100966069-chr7:101150864..101151681,3	MCF-7	breast:
15	chr7:100925966..100926493-chr7:101150818..101151617,2	K562	blood:
16	chr7:101112161..101112969-chr7:101150803..101151689,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000128581	Chromatin interaction
ENSG00000160963	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10245282	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10250542	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12333934	0.86[ASN][1000 genomes]
rs13242215	0.86[ASN][1000 genomes]
rs1558011	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2410853	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28377076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28566935	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35254667	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4348407	0.84[ASN][1000 genomes]
rs58289139	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60144472	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6465812	0.86[ASN][1000 genomes]
rs6948794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7778986	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs877703	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs877704	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9969330	0.86[ASN][1000 genomes]
rs9969331	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv429788	chr7:100799565-101178565	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS 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 miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1017707	chr7:100968363-101156017	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1020456	chr7:100968363-101156056	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv464660	chr7:100968363-101171028	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv607981	chr7:100968363-101171028	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1021187	chr7:100993420-101178831	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv888821	chr7:101091470-101311540	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv831078	chr7:101094945-101257486	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv888822	chr7:101105017-101330734	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv888823	chr7:101109073-101174965	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv888824	chr7:101109073-101330734	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv1025029	chr7:101120515-101156998	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101126800-101165000	Weak transcription	Right Atrium	heart
2	chr7:101149200-101151600	Enhancers	HepG2	liver
3	chr7:101150000-101151600	Enhancers	GM12878-XiMat	blood
4	chr7:101150600-101151600	Enhancers	Primary B cells from peripheral blood	blood
5	chr7:101150600-101151600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr7:101150600-101151600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:101150800-101151600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:101151000-101151600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
9	chr7:101151000-101151600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr7:101151000-101151600	Enhancers	Fetal Lung	lung
11	chr7:101151000-101152200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:101151000-101160400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:101151000-101181400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:101151200-101151600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:101151200-101153200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:101151200-101153600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:101151200-101158200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:101151400-101151600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:101151400-101151600	Enhancers	Fetal Kidney	kidney
20	chr7:101151400-101152000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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