Variant report

Variant	rs6492243
Chromosome Location	chr13:110780485-110780486
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:

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]
rs7989379	1.00[EUR][1000 genomes]
rs7991244	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110772600-110781800	Enhancers	HMEC	breast
2	chr13:110775000-110781400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:110776200-110780600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr13:110777600-110780600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:110777600-110780600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr13:110777800-110780600	Enhancers	Left Ventricle	heart
7	chr13:110778000-110782400	Enhancers	Fetal Muscle Leg	muscle
8	chr13:110778200-110780600	Enhancers	NHLF	lung
9	chr13:110778200-110781000	Enhancers	NHDF-Ad	bronchial
10	chr13:110778200-110782400	Enhancers	GM12878-XiMat	blood
11	chr13:110779000-110780600	Enhancers	NH-A	brain
12	chr13:110779000-110781000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr13:110779000-110784400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr13:110779200-110780600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:110779200-110780600	Enhancers	Right Atrium	heart
16	chr13:110779200-110781000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr13:110779200-110781200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr13:110779200-110781200	Enhancers	A549	lung
19	chr13:110779200-110781200	Enhancers	NHEK	skin
20	chr13:110779200-110781400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr13:110779200-110781800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr13:110779200-110781800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr13:110779200-110785000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr13:110779400-110780600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:110779400-110780600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:110779400-110780600	Enhancers	Brain Cingulate Gyrus	brain
27	chr13:110779400-110780800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr13:110779400-110780800	Enhancers	Stomach Smooth Muscle	stomach
29	chr13:110779400-110781400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr13:110779400-110781400	Enhancers	HSMMtube	muscle
31	chr13:110779400-110783000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr13:110779400-110784600	Weak transcription	Brain Germinal Matrix	brain
33	chr13:110779600-110780600	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr13:110779600-110781000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr13:110779600-110781200	Enhancers	Adipose Nuclei	Adipose
36	chr13:110779600-110781800	Enhancers	HUVEC	blood vessel
37	chr13:110779600-110784000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr13:110779600-110784400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr13:110779600-110785000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr13:110779600-110785200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr13:110779600-110789400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr13:110779800-110781600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr13:110779800-110784000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr13:110779800-110787400	Weak transcription	Brain Angular Gyrus	brain
45	chr13:110780000-110781600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr13:110780000-110781600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr13:110780000-110781600	Weak transcription	Lung	lung
48	chr13:110780000-110783000	Weak transcription	Fetal Brain Male	brain
49	chr13:110780000-110784600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr13:110780000-110784600	Weak transcription	Brain Anterior Caudate	brain

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