Variant report

Variant	rs11069840
Chromosome Location	chr13:110988807-110988808
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12428412	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs4771665	0.80[ASN][1000 genomes]
rs9521703	0.80[ASN][1000 genomes]
rs9645914	1.00[CHB][hapmap];0.80[ASN][1000 genomes]

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	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1049454	chr13:110950768-111006547	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110962600-110989200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr13:110972600-111007200	Weak transcription	Gastric	stomach
3	chr13:110972800-110995000	Weak transcription	Esophagus	oesophagus
4	chr13:110974000-110993000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:110979800-110989200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:110979800-110989200	Weak transcription	Brain Hippocampus Middle	brain
7	chr13:110980000-110989400	Weak transcription	Fetal Intestine Small	intestine
8	chr13:110980200-110989800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr13:110980200-110993000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr13:110980200-110995400	Weak transcription	A549	lung
11	chr13:110980200-111002800	Weak transcription	Fetal Brain Male	brain
12	chr13:110981000-110989600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr13:110981600-110990200	Genic enhancers	Fetal Muscle Leg	muscle
14	chr13:110982000-110992600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr13:110982200-110989600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr13:110982400-110991000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr13:110983200-110992800	Enhancers	Colon Smooth Muscle	Colon
18	chr13:110983400-110990200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr13:110983400-110991000	Weak transcription	Brain Germinal Matrix	brain
20	chr13:110984000-110989200	Weak transcription	Colonic Mucosa	Colon
21	chr13:110984000-110989200	Weak transcription	Psoas Muscle	Psoas
22	chr13:110984000-110989200	Weak transcription	Small Intestine	intestine
23	chr13:110984000-110989600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr13:110984200-110989200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr13:110984200-110989600	Weak transcription	Fetal Kidney	kidney
26	chr13:110984200-110992400	Genic enhancers	NH-A	brain
27	chr13:110984400-110990200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:110985200-110990200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr13:110985200-110990200	Genic enhancers	Fetal Stomach	stomach
30	chr13:110985400-110989000	Strong transcription	Osteobl	bone
31	chr13:110985400-110989400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr13:110985600-110989800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr13:110985800-110989800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr13:110986200-110990200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr13:110986200-110992600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr13:110986600-110989000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr13:110986600-110993000	Enhancers	Right Atrium	heart
38	chr13:110986600-110994400	Enhancers	Ovary	ovary
39	chr13:110986800-110989000	Genic enhancers	Stomach Smooth Muscle	stomach
40	chr13:110986800-110990000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr13:110986800-110990600	Weak transcription	Fetal Intestine Large	intestine
42	chr13:110987000-110989400	Weak transcription	HSMMtube	muscle
43	chr13:110987000-110990800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr13:110987400-110989000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr13:110987400-110989200	Weak transcription	HSMM	muscle
46	chr13:110987400-110989400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr13:110987400-110990200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr13:110987600-110989000	Weak transcription	Placenta	Placenta
49	chr13:110987600-110992000	Weak transcription	HMEC	breast
50	chr13:110987600-110993200	Enhancers	Left Ventricle	heart

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