Variant report

Variant	rs6716517
Chromosome Location	chr2:10212528-10212529
allele	G/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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10212496..10213272-chr2:10328166..10328691,2	K562	blood:
2	chr2:10212500..10214413-chr2:10215396..10217902,2	K562	blood:
3	chr2:10212431..10213322-chr2:10574736..10575754,5	K562	blood:
4	chr2:9953287..9954158-chr2:10212428..10212955,2	K562	blood:
5	chr2:10212164..10214408-chr2:10573869..10575814,2	K562	blood:
6	chr2:10206536..10209507-chr2:10209889..10212659,3	MCF-7	breast:
7	chr2:10211139..10213662-chr2:10577265..10580581,3	K562	blood:
8	chr2:10210126..10213175-chr2:10261242..10263623,3	K562	blood:
9	chr2:10210334..10214416-chr2:10274346..10279304,5	K562	blood:
10	chr2:10211477..10214232-chr2:10259784..10261628,2	MCF-7	breast:
11	chr2:10212435..10213271-chr2:10237193..10238152,4	MCF-7	breast:
12	chr2:10205039..10208772-chr2:10211420..10213681,4	MCF-7	breast:
13	chr2:10212443..10213176-chr2:10548994..10549507,2	K562	blood:
14	chr2:10212398..10213572-chr2:10237125..10238205,7	K562	blood:
15	chr2:10210223..10212635-chr2:10261568..10264274,3	MCF-7	breast:
16	chr2:10212447..10213410-chr2:10575150..10575717,2	MCF-7	breast:
17	chr2:10201867..10204592-chr2:10210063..10212857,2	MCF-7	breast:
18	chr2:10199271..10201826-chr2:10210996..10213511,2	K562	blood:
19	chr2:10211928..10214409-chr2:10219100..10221689,2	MCF-7	breast:
20	chr2:10211828..10213317-chr2:10574292..10575609,5	MCF-7	breast:
21	chr2:10212381..10213294-chr2:10808675..10809208,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000171848	Chromatin interaction
ENSG00000205795	Chromatin interaction
ENSG00000272524	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11886933	1.00[ASN][1000 genomes]
rs2116017	1.00[ASN][1000 genomes]
rs35927125	1.00[ASN][1000 genomes]
rs4444493	1.00[ASN][1000 genomes]
rs4669510	1.00[ASN][1000 genomes]
rs4669512	1.00[ASN][1000 genomes]
rs4669559	1.00[ASN][1000 genomes]
rs55797250	1.00[ASN][1000 genomes]
rs56013048	1.00[ASN][1000 genomes]
rs56277911	1.00[ASN][1000 genomes]
rs57031421	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717307	1.00[ASN][1000 genomes]
rs6744258	1.00[ASN][1000 genomes]
rs72542775	1.00[ASN][1000 genomes]
rs72542787	1.00[ASN][1000 genomes]
rs72771623	1.00[ASN][1000 genomes]
rs72784502	1.00[ASN][1000 genomes]
rs72786603	1.00[ASN][1000 genomes]
rs7586930	1.00[ASN][1000 genomes]
rs7591484	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601478	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv828297	chr2:10109299-10236332	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1007965	chr2:10154960-10276125	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1014790	chr2:10156968-10274855	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv999019	chr2:10157762-10273232	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv873633	chr2:10175442-10266563	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
8	nsv1010706	chr2:10189219-10266995	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10193600-10218400	Weak transcription	Brain Angular Gyrus	brain
2	chr2:10194600-10215600	Weak transcription	Fetal Kidney	kidney
3	chr2:10198000-10218600	Weak transcription	Right Atrium	heart
4	chr2:10198200-10212600	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:10198200-10212600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:10200800-10212600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:10201000-10212800	Weak transcription	Pancreas	Pancrea
8	chr2:10201000-10218400	Weak transcription	Ovary	ovary
9	chr2:10203400-10212600	Weak transcription	Adipose Nuclei	Adipose
10	chr2:10203400-10212800	Weak transcription	Spleen	Spleen
11	chr2:10205800-10213000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:10206200-10213000	Weak transcription	Fetal Intestine Large	intestine
13	chr2:10206400-10213000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:10206800-10212600	Weak transcription	Fetal Stomach	stomach
15	chr2:10206800-10212600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:10206800-10218200	Weak transcription	Aorta	Aorta
17	chr2:10210400-10212600	Weak transcription	Liver	Liver
18	chr2:10211800-10212600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:10211800-10213000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:10212000-10212800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:10212000-10213000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:10212000-10213000	Weak transcription	Fetal Intestine Small	intestine

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