Variant report

Variant	rs471538
Chromosome Location	chr11:64833291-64833292
allele	A/C
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:64832671..64835759-chr11:64851097..64853512,3	MCF-7	breast:
2	chr11:64830352..64833350-chr17:78270832..78273035,2	K562	blood:
3	chr11:64609376..64612087-chr11:64831542..64834071,2	MCF-7	breast:
4	chr11:64828596..64831631-chr11:64831856..64834174,3	K562	blood:
5	chr11:64781815..64785733-chr11:64830700..64833952,3	MCF-7	breast:
6	chr11:64831212..64833575-chr11:64835591..64837138,2	MCF-7	breast:
7	chr11:64828591..64830129-chr11:64831229..64833920,2	K562	blood:
8	chr11:64813127..64817234-chr11:64832954..64835448,4	MCF-7	breast:
9	chr11:64830399..64834355-chr11:64844286..64848376,4	K562	blood:
10	chr11:64826825..64829734-chr11:64831160..64833314,2	MCF-7	breast:
11	chr11:64831179..64833525-chr11:64835168..64836867,2	K562	blood:
12	chr11:64831318..64833651-chr11:64878761..64881010,2	K562	blood:
13	chr11:64832014..64834014-chr11:64836154..64838250,2	K562	blood:
14	chr11:64819293..64820855-chr11:64832360..64833915,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000149809	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000168060	Chromatin interaction
ENSG00000146670	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10501396	0.82[TSI][hapmap]
rs566908	0.86[ASW][hapmap];1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897709	chr11:64772545-64870779	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs471538	VWCE	cis	cerebellum	SCAN
rs471538	ALDH3B1	cis	cerebellum	SCAN
rs471538	SCGB1D4	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64822400-64850800	Weak transcription	Esophagus	oesophagus
2	chr11:64828400-64833400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:64828600-64833800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:64828600-64834400	Weak transcription	Fetal Thymus	thymus
5	chr11:64828800-64833800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:64830000-64834000	Weak transcription	GM12878-XiMat	blood
7	chr11:64830000-64836800	Weak transcription	Spleen	Spleen
8	chr11:64830200-64833800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:64830200-64835800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:64830800-64835600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr11:64831400-64835400	Enhancers	Fetal Intestine Large	intestine
12	chr11:64833000-64833800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:64833200-64834000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:64833200-64834000	Enhancers	Fetal Intestine Small	intestine
15	chr11:64833200-64834600	Enhancers	K562	blood
16	chr11:64833200-64834800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:64833200-64835000	Flanking Active TSS	HepG2	liver

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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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