Variant report

Variant	rs7327548
Chromosome Location	chr13:76055820-76055821
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:76055137..76056712-chr13:76122225..76124650,2	MCF-7	breast:
2	chr13:76055248..76057886-chr13:76110224..76112780,4	MCF-7	breast:
3	chr13:76055434..76058277-chr13:76123047..76126766,3	K562	blood:

Variant related genes	Relation type
ENSG00000188243	Chromatin interaction
ENSG00000261553	Chromatin interaction
ENSG00000118939	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs66813596	0.96[ASN][1000 genomes]
rs7994805	0.94[ASN][1000 genomes]
rs9543944	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9573556	0.94[ASN][1000 genomes]
rs9573557	0.92[ASN][1000 genomes]
rs9573559	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9573565	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9573568	0.91[ASN][1000 genomes]
rs9573569	0.91[ASN][1000 genomes]
rs9600477	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv455987	chr13:75972846-76090084	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv562346	chr13:75972846-76090084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76052000-76057400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr13:76052200-76057000	Active TSS	Right Atrium	heart
3	chr13:76052600-76057000	Active TSS	Left Ventricle	heart
4	chr13:76052600-76057000	Active TSS	Right Ventricle	heart
5	chr13:76053000-76057000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:76053200-76057400	Active TSS	Fetal Kidney	kidney
7	chr13:76053400-76057000	Active TSS	Fetal Heart	heart
8	chr13:76053400-76057000	Active TSS	Psoas Muscle	Psoas
9	chr13:76053400-76057000	Active TSS	K562	blood
10	chr13:76053400-76057200	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr13:76053600-76057200	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr13:76053600-76057400	Active TSS	Fetal Muscle Leg	muscle
13	chr13:76053600-76057400	Active TSS	NHDF-Ad	bronchial
14	chr13:76053800-76057000	Active TSS	Ovary	ovary
15	chr13:76053800-76057000	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr13:76053800-76057200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr13:76053800-76057200	Active TSS	HSMMtube	muscle
18	chr13:76053800-76057400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:76054000-76057000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr13:76054000-76057000	Active TSS	Fetal Lung	lung
21	chr13:76054000-76057000	Active TSS	Hela-S3	cervix
22	chr13:76054000-76057200	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr13:76054000-76057400	Active TSS	HMEC	breast
24	chr13:76054000-76057400	Active TSS	NHLF	lung
25	chr13:76054200-76057000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr13:76054200-76057000	Active TSS	Brain Cingulate Gyrus	brain
27	chr13:76054200-76057000	Active TSS	NH-A	brain
28	chr13:76054200-76057200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:76054200-76057200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:76054200-76057400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr13:76054400-76056200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr13:76054400-76056600	Active TSS	Rectal Smooth Muscle	rectum
33	chr13:76054400-76057000	Active TSS	Brain Substantia Nigra	brain
34	chr13:76054400-76057000	Active TSS	Fetal Muscle Trunk	muscle
35	chr13:76054400-76057200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr13:76054400-76057200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr13:76054400-76057200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr13:76054400-76057200	Active TSS	Brain Anterior Caudate	brain
39	chr13:76054400-76057400	Active TSS	A549	lung
40	chr13:76054600-76056800	Active TSS	H9 Cell Line	embryonic stem cell
41	chr13:76054600-76056800	Active TSS	NHEK	skin
42	chr13:76054600-76057000	Active TSS	Brain Angular Gyrus	brain
43	chr13:76054600-76057200	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr13:76054600-76057200	Active TSS	Placenta	Placenta
45	chr13:76054600-76057200	Active TSS	Osteobl	bone
46	chr13:76054800-76056000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr13:76054800-76056200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr13:76054800-76056800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr13:76054800-76056800	Active TSS	Gastric	stomach
50	chr13:76054800-76056800	Active TSS	Pancreas	Pancrea

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