Variant report

Variant	rs10953848
Chromosome Location	chr7:117346112-117346113
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr7:117345977-117346623	Hela-S3	cervix:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:117065049-117068137..7:117341506-117356953	H1-hESC	embryonic stem cell:	embryo
2	7:116651084-116657331..7:117341506-117356953	Hela-S3	cervix:
3	7:117251668-117255413..7:117341506-117356953	Hela-S3	cervix:
4	chr7:117338716..117341307-chr7:117344379..117346864,2	MCF-7	breast:
5	7:116754962-116765597..7:117341506-117356953	Hela-S3	cervix:
6	7:116728195-116740907..7:117341506-117356953	Hela-S3	cervix:
7	7:116434729-116454408..7:117341506-117356953	Hela-S3	cervix:
8	chr7:117342771..117345481-chr7:117345795..117348003,2	K562	blood:
9	7:117114628-117119361..7:117341506-117356953	H1-hESC	embryonic stem cell:	embryo
10	7:117100350-117112126..7:117341506-117356953	GM12878	blood:
11	7:115847372-115857098..7:117341506-117356953	Hela-S3	cervix:
12	7:115890993-115892266..7:117341506-117356953	H1-hESC	embryonic stem cell:	embryo
13	7:116307511-116321259..7:117341506-117356953	Hela-S3	cervix:
14	7:116604327-116608063..7:117341506-117356953	H1-hESC	embryonic stem cell:	embryo
15	7:115861595-115870968..7:117341506-117356953	Hela-S3	cervix:

No data

Variant related genes	Relation type
CFTR	TF binding region
ENSG00000228368	Chromatin interaction
ENSG00000226367	Chromatin interaction
ENSG00000154438	Chromatin interaction
ENSG00000198898	Chromatin interaction
ENSG00000105976	Chromatin interaction
ENSG00000004866	Chromatin interaction
ENSG00000001626	Chromatin interaction
ENSG00000135269	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10226907	0.86[ASN][1000 genomes]
rs10231905	0.86[ASN][1000 genomes]
rs10244694	0.86[ASN][1000 genomes]
rs10249419	1.00[ASN][1000 genomes]
rs10266116	0.86[ASN][1000 genomes]
rs10272233	0.86[ASN][1000 genomes]
rs10278481	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1042180	0.86[ASN][1000 genomes]
rs10441245	0.86[ASN][1000 genomes]
rs11764070	0.86[ASN][1000 genomes]
rs11767185	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768272	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11974545	1.00[ASN][1000 genomes]
rs12534210	1.00[ASN][1000 genomes]
rs12534233	1.00[ASN][1000 genomes]
rs1366912	0.86[ASN][1000 genomes]
rs1429563	0.86[ASN][1000 genomes]
rs1429568	0.86[ASN][1000 genomes]
rs1468262	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1594189	0.86[ASN][1000 genomes]
rs17140297	0.86[ASN][1000 genomes]
rs17140352	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17452984	0.86[ASN][1000 genomes]
rs17549557	0.86[ASN][1000 genomes]
rs17550204	0.86[ASN][1000 genomes]
rs17550567	1.00[ASN][1000 genomes]
rs1800136	0.86[ASN][1000 genomes]
rs1966352	1.00[ASN][1000 genomes]
rs2059938	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2079178	1.00[ASN][1000 genomes]
rs213980	0.83[ASN][1000 genomes]
rs213981	0.83[ASN][1000 genomes]
rs213988	0.83[ASN][1000 genomes]
rs213989	0.83[ASN][1000 genomes]
rs214159	0.86[ASN][1000 genomes]
rs214163	1.00[ASN][1000 genomes]
rs214164	0.83[ASN][1000 genomes]
rs2188150	0.83[ASN][1000 genomes]
rs34331324	0.86[ASN][1000 genomes]
rs34374846	0.86[ASN][1000 genomes]
rs34541842	1.00[ASN][1000 genomes]
rs34637736	1.00[ASN][1000 genomes]
rs34665848	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34927137	0.86[ASN][1000 genomes]
rs35216437	1.00[ASN][1000 genomes]
rs35292549	0.86[ASN][1000 genomes]
rs35454880	1.00[ASN][1000 genomes]
rs35871198	1.00[ASN][1000 genomes]
rs35941557	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4500028	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730793	0.86[ASN][1000 genomes]
rs4730794	0.86[ASN][1000 genomes]
rs4730795	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730797	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730798	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730799	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4730801	1.00[ASN][1000 genomes]
rs4730802	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466618	0.86[ASN][1000 genomes]
rs6943317	0.86[ASN][1000 genomes]
rs6967714	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6973257	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6977789	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6980032	0.86[ASN][1000 genomes]
rs739797	1.00[ASN][1000 genomes]
rs739798	1.00[ASN][1000 genomes]
rs757278	1.00[ASN][1000 genomes]
rs7779353	0.86[ASN][1000 genomes]
rs7796211	0.86[ASN][1000 genomes]
rs7804816	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464695	chr7:117342771-117393516	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv608258	chr7:117342771-117393516	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117327000-117376400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:117344400-117350000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:117344400-117364400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:117345400-117347600	Enhancers	Hela-S3	cervix

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