Variant report

Variant	rs7321754
Chromosome Location	chr13:49305572-49305573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:49294202..49296388-chr13:49304146..49306274,2	K562	blood:
2	chr13:49294012..49296388-chr13:49304774..49306280,2	K562	blood:
3	chr13:49169593..49170465-chr13:49305139..49306545,8	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs61563834	1.00[AMR][1000 genomes]
rs7319682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73486881	1.00[AMR][1000 genomes]
rs73486884	1.00[AMR][1000 genomes]
rs73489018	1.00[AMR][1000 genomes]
rs73489033	1.00[AMR][1000 genomes]
rs73489034	1.00[AMR][1000 genomes]
rs73489037	1.00[AMR][1000 genomes]

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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv832605	chr13:49171305-49344970	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv2758327	chr13:49283983-49472517	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2759936	chr13:49283983-49472517	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49300200-49306400	Enhancers	Hela-S3	cervix
2	chr13:49300600-49306800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:49302400-49306000	Weak transcription	Fetal Muscle Leg	muscle
4	chr13:49303000-49312200	Weak transcription	Fetal Lung	lung
5	chr13:49303400-49305800	Weak transcription	Adipose Nuclei	Adipose
6	chr13:49304000-49306400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr13:49304400-49305800	Weak transcription	Fetal Intestine Small	intestine
8	chr13:49304400-49306000	Weak transcription	Stomach Mucosa	stomach
9	chr13:49305000-49305800	Enhancers	Osteobl	bone
10	chr13:49305200-49305600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:49305200-49305600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr13:49305200-49305600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:49305200-49305600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr13:49305200-49305600	Enhancers	Placenta	Placenta
15	chr13:49305200-49305800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr13:49305200-49305800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr13:49305200-49305800	Bivalent Enhancer	NHDF-Ad	bronchial
18	chr13:49305200-49306000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr13:49305200-49306000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr13:49305200-49306000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr13:49305200-49306200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr13:49305200-49306200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr13:49305200-49306200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr13:49305200-49306200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr13:49305200-49306200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:49305200-49306200	Enhancers	NH-A	brain
27	chr13:49305200-49306400	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr13:49305400-49305600	Enhancers	HMEC	breast
29	chr13:49305400-49305800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr13:49305400-49306400	Weak transcription	Left Ventricle	heart
31	chr13:49305400-49306400	Enhancers	NHEK	skin
32	chr13:49305400-49308000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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