Variant report

Variant	rs35466314
Chromosome Location	chr7:117326733-117326734
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr7:117326593-117326819	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAFK	chr7:117326610-117326901	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:117114628-117119361..7:117326534-117332210	H1-hESC	embryonic stem cell:	embryo
2	7:116307511-116321259..7:117326534-117332210	Hela-S3	cervix:
3	chr7:117314737..117317346-chr7:117324406..117328585,3	MCF-7	breast:
4	7:116957165-116964911..7:117326534-117332210	H1-hESC	embryonic stem cell:	embryo
5	7:116434729-116454408..7:117326534-117332210	H1-hESC	embryonic stem cell:	embryo
6	7:115890993-115892266..7:117326534-117332210	H1-hESC	embryonic stem cell:	embryo
7	7:117100350-117112126..7:117326534-117332210	H1-hESC	embryonic stem cell:	embryo
8	chr7:117321253..117323639-chr7:117325646..117329002,3	K562	blood:
9	7:116500954-116503335..7:117326534-117332210	Hela-S3	cervix:
10	7:116604327-116608063..7:117326534-117332210	Hela-S3	cervix:

No data

No data

No data

Variant related genes	Relation type
CFTR	TF binding region
ENSG00000198898	Chromatin interaction
ENSG00000228368	Chromatin interaction
ENSG00000105976	Chromatin interaction
ENSG00000135269	Chromatin interaction
ENSG00000001626	Chromatin interaction
ENSG00000105989	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16870129	1.00[AMR][1000 genomes]
rs17140299	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17140308	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34260394	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34372925	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs34476343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34623881	1.00[AMR][1000 genomes]
rs35050594	1.00[AMR][1000 genomes]
rs35097594	1.00[AMR][1000 genomes]
rs35347718	1.00[AMR][1000 genomes]
rs35380228	1.00[AMR][1000 genomes]
rs35511767	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35547457	1.00[AMR][1000 genomes]
rs35924144	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36024281	1.00[AMR][1000 genomes]
rs6948175	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6969578	1.00[AMR][1000 genomes]
rs7783208	1.00[AMR][1000 genomes]

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117322000-117330600	Enhancers	Fetal Intestine Large	intestine
2	chr7:117324000-117328400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr7:117324000-117328400	Weak transcription	Small Intestine	intestine
4	chr7:117325800-117327600	Enhancers	Fetal Intestine Small	intestine
5	chr7:117326000-117326800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:117326000-117327000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:117326000-117327000	Enhancers	Fetal Lung	lung
8	chr7:117326000-117327000	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr7:117326000-117327000	Enhancers	Dnd41	blood
10	chr7:117326000-117327000	Enhancers	Hela-S3	cervix
11	chr7:117326200-117327000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr7:117326200-117327000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:117326200-117327000	Enhancers	Fetal Kidney	kidney
14	chr7:117326400-117326800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr7:117326400-117327000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:117326600-117326800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:117326600-117326800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:117326600-117327000	Enhancers	Rectal Mucosa Donor 29	rectum

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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