Variant report

Variant	rs7991244
Chromosome Location	chr13:110781852-110781853
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	chr13:110780351..110781890-chr13:110782553..110784222,2	MCF-7	breast:
2	chr13:110781644..110784725-chr13:110789802..110792162,3	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57456074	1.00[EUR][1000 genomes]
rs6492243	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7989379	1.00[EUR][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	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
2	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
3	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
4	nsv1052147	chr13:110765635-110917782	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110778000-110782400	Enhancers	Fetal Muscle Leg	muscle
2	chr13:110778200-110782400	Enhancers	GM12878-XiMat	blood
3	chr13:110779000-110784400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr13:110779200-110785000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr13:110779400-110783000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr13:110779400-110784600	Weak transcription	Brain Germinal Matrix	brain
7	chr13:110779600-110784000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:110779600-110784400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr13:110779600-110785000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr13:110779600-110785200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr13:110779600-110789400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr13:110779800-110784000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr13:110779800-110787400	Weak transcription	Brain Angular Gyrus	brain
14	chr13:110780000-110783000	Weak transcription	Fetal Brain Male	brain
15	chr13:110780000-110784600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr13:110780000-110784600	Weak transcription	Brain Anterior Caudate	brain
17	chr13:110780000-110785000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr13:110780200-110782400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr13:110780200-110782800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr13:110780200-110783800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr13:110780400-110782200	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr13:110780400-110784400	Weak transcription	Fetal Heart	heart
23	chr13:110780400-110784800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr13:110780400-110787200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr13:110780600-110782000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr13:110780600-110782800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:110780600-110785200	Weak transcription	Right Atrium	heart
28	chr13:110780600-110789400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:110780600-110790400	Weak transcription	Spleen	Spleen
30	chr13:110780800-110782000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr13:110781000-110782800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr13:110781200-110789200	Weak transcription	NHEK	skin
33	chr13:110781200-110789400	Weak transcription	Adipose Nuclei	Adipose
34	chr13:110781400-110782400	Enhancers	Right Ventricle	heart
35	chr13:110781400-110782400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr13:110781400-110782600	Weak transcription	HSMMtube	muscle
37	chr13:110781400-110782800	Weak transcription	HSMM	muscle
38	chr13:110781400-110783000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr13:110781400-110789200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr13:110781600-110782200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr13:110781600-110782200	Active TSS	Psoas Muscle	Psoas
42	chr13:110781600-110782400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr13:110781600-110782400	Enhancers	Lung	lung
44	chr13:110781600-110783000	Enhancers	Left Ventricle	heart
45	chr13:110781600-110783200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr13:110781600-110784400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr13:110781800-110783000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr13:110781800-110784600	Weak transcription	Brain Hippocampus Middle	brain
49	chr13:110781800-110784600	Weak transcription	NH-A	brain
50	chr13:110781800-110784800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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