Variant report

Variant	rs7321805
Chromosome Location	chr13:30596050-30596051
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30593860..30596414-chr13:30619534..30622191,2	MCF-7	breast:
2	chr13:30594873..30597210-chr13:30677151..30678863,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12428597	0.90[ASN][1000 genomes]
rs716801	0.83[CEU][hapmap]
rs753801	0.87[CHB][hapmap];1.00[JPT][hapmap];0.86[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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7321805	FLT3	cis	parietal	SCAN
rs7321805	CARD11	trans	parietal	SCAN
rs7321805	C13orf33	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30592000-30599400	Enhancers	Placenta Amnion	Placenta Amnion
2	chr13:30592200-30600600	Weak transcription	Right Atrium	heart
3	chr13:30593000-30599000	Weak transcription	Brain Anterior Caudate	brain
4	chr13:30593200-30606600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr13:30593800-30600000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:30594000-30596600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr13:30594200-30596400	Enhancers	Osteobl	bone
8	chr13:30594200-30596800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:30594200-30597200	Enhancers	NHDF-Ad	bronchial
10	chr13:30594400-30598800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr13:30594400-30599000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr13:30594600-30596400	Weak transcription	Placenta	Placenta
13	chr13:30594600-30599200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr13:30594800-30597400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:30595000-30596200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr13:30595200-30596400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr13:30595200-30612000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr13:30595400-30596400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr13:30595400-30599600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr13:30595600-30596400	Weak transcription	Spleen	Spleen
21	chr13:30595600-30599200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr13:30595800-30596200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:30595800-30599200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr13:30595800-30599400	Weak transcription	NHLF	lung
25	chr13:30595800-30600000	Weak transcription	HSMM	muscle
26	chr13:30596000-30599400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr13:30596000-30600000	Weak transcription	HSMMtube	muscle

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