Variant report

Variant	rs7535487
Chromosome Location	chr1:45791189-45791190
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45791057..45793075-chr1:45795554..45797177,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132781	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs3893383	0.89[CEU][hapmap];0.89[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv997548	chr1:45733596-45955845	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv534942	chr1:45733596-45955845	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv482356	chr1:45750459-45915545	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7535487	GUCA2B	cis	cerebellum	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45786000-45791800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:45786200-45791200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:45786200-45791200	Weak transcription	Spleen	Spleen
4	chr1:45786400-45791200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:45786400-45792200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:45787200-45796600	Weak transcription	HepG2	liver
7	chr1:45787400-45791200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:45788400-45792200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:45788600-45791400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:45788600-45791400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:45788600-45791400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:45788600-45791600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:45788600-45791600	Weak transcription	GM12878-XiMat	blood
14	chr1:45788600-45791800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:45788600-45792000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:45788600-45792200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:45788600-45792600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:45788600-45793400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:45789000-45791600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:45789000-45792000	Weak transcription	Thymus	Thymus
21	chr1:45789800-45795000	Weak transcription	K562	blood
22	chr1:45791000-45792000	Enhancers	Brain Substantia Nigra	brain
23	chr1:45791000-45793000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:45791000-45793600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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