Variant report

Variant	rs1534771
Chromosome Location	chr7:21987884-21987885
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr7:21987853-21988089	HepG2	liver:	n/a	n/a
2	TCF7L2	chr7:21987677-21988679	HEK293	kidney:	n/a	n/a
3	KAP1	chr7:21987632-21989337	HEK293	kidney:	n/a	n/a
4	CEBPB	chr7:21987632-21987952	Hela-S3	cervix:	n/a	n/a
5	MAFK	chr7:21987863-21988133	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
CDCA7L	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12154480	0.80[AMR][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	nsv1018133	chr7:21740118-22055283	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv870325	chr7:21979039-22120493	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1534771	C7orf46	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21985800-21989200	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr7:21986000-21988400	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr7:21986000-21988600	Enhancers	Primary T cells from cord blood	blood
4	chr7:21986000-21988600	Enhancers	HUVEC	blood vessel
5	chr7:21986000-21989600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:21986000-21993200	Weak transcription	Ovary	ovary
7	chr7:21986200-21988000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr7:21986200-21988200	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr7:21986200-21988400	Enhancers	Primary B cells from peripheral blood	blood
10	chr7:21986200-21988600	Enhancers	Primary B cells from cord blood	blood
11	chr7:21986200-21988600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr7:21986200-21989000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr7:21986200-21992800	Weak transcription	Fetal Heart	heart
14	chr7:21986400-21988600	Weak transcription	Placenta	Placenta
15	chr7:21986400-21989200	Enhancers	GM12878-XiMat	blood
16	chr7:21986600-21989000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr7:21986800-21988400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:21986800-21988400	Weak transcription	Fetal Lung	lung
19	chr7:21987200-21988000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:21987200-21988400	Weak transcription	Fetal Thymus	thymus
21	chr7:21987400-21988200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:21987400-21988400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:21987400-21989600	Enhancers	Primary hematopoietic stem cells	blood
24	chr7:21987600-21988400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:21987600-21989400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:21987600-21989600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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