Variant report

Variant	rs7318126
Chromosome Location	chr13:110762336-110762337
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:110761020..110763183-chr13:110765963..110768234,2	MCF-7	breast:
2	chr13:110436205..110441713-chr13:110758837..110762777,7	MCF-7	breast:
3	chr13:110760613..110762563-chr13:110777021..110779083,2	MCF-7	breast:
4	chr13:110436096..110439350-chr13:110760184..110763012,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185950	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11069825	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12869698	1.00[ASN][1000 genomes]
rs2218471	1.00[ASN][1000 genomes]
rs35417370	0.82[EUR][1000 genomes]
rs4238271	1.00[ASN][1000 genomes]
rs56314927	0.85[ASN][1000 genomes]
rs7988768	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9521601	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901005	chr13:110733102-110766350	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv563097	chr13:110742197-110766350	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv901006	chr13:110748857-110806490	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv563099	chr13:110749252-110778894	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv456115	chr13:110756664-110806490	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv563100	chr13:110756664-110806490	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	esv3392579	chr13:110758851-110763149	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110760000-110762600	Enhancers	Fetal Muscle Trunk	muscle
2	chr13:110760800-110762800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr13:110760800-110762800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:110760800-110762800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr13:110760800-110762800	Enhancers	A549	lung
6	chr13:110760800-110763000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr13:110760800-110763000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr13:110760800-110763000	Enhancers	Fetal Heart	heart
9	chr13:110760800-110766400	Weak transcription	Spleen	Spleen
10	chr13:110761000-110762600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr13:110761000-110763000	Enhancers	HMEC	breast
12	chr13:110761200-110762400	Enhancers	NHEK	skin
13	chr13:110761200-110762800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr13:110761200-110762800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr13:110761200-110763000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr13:110761200-110763000	Enhancers	Left Ventricle	heart
17	chr13:110761400-110762600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr13:110761400-110762600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:110761400-110762600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr13:110761400-110762800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr13:110761400-110762800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr13:110761400-110762800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr13:110761400-110762800	Enhancers	Colon Smooth Muscle	Colon
24	chr13:110761400-110763000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr13:110761400-110763000	Enhancers	Fetal Muscle Leg	muscle
26	chr13:110761400-110763000	Enhancers	NHLF	lung
27	chr13:110761600-110762400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr13:110761600-110762400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr13:110761600-110762400	Enhancers	Placenta Amnion	Placenta Amnion
30	chr13:110761600-110762600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr13:110761600-110762600	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr13:110761600-110762600	Enhancers	Right Atrium	heart
33	chr13:110761600-110762600	Flanking Active TSS	HSMM	muscle
34	chr13:110761600-110762800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr13:110761600-110762800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr13:110761600-110762800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:110761600-110762800	Enhancers	Brain Substantia Nigra	brain
38	chr13:110761600-110762800	Enhancers	Fetal Lung	lung
39	chr13:110761600-110762800	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr13:110761600-110763000	Enhancers	NH-A	brain
41	chr13:110761600-110765400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr13:110761600-110767800	Weak transcription	Lung	lung
43	chr13:110761800-110762400	Enhancers	Brain Cingulate Gyrus	brain
44	chr13:110761800-110762600	Enhancers	Fetal Stomach	stomach
45	chr13:110761800-110762800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr13:110761800-110762800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr13:110761800-110762800	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr13:110761800-110762800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr13:110761800-110762800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr13:110761800-110765400	Weak transcription	Right Ventricle	heart

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