Variant report

Variant	rs9521694
Chromosome Location	chr13:110977573-110977574
allele	A/T
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]
rs12877336	0.82[YRI][hapmap]
rs9521691	0.81[EUR][1000 genomes]
rs9521692	1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs9521693	0.81[EUR][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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110962000-110978600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr13:110962600-110989200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr13:110966800-110979400	Weak transcription	Fetal Brain Male	brain
4	chr13:110969600-110979000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:110969800-110980200	Enhancers	Rectal Smooth Muscle	rectum
6	chr13:110969800-110983200	Enhancers	Fetal Heart	heart
7	chr13:110970200-110978800	Weak transcription	Fetal Intestine Large	intestine
8	chr13:110972600-110978800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr13:110972600-110978800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr13:110972600-110979200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr13:110972600-111007200	Weak transcription	Gastric	stomach
12	chr13:110972800-110995000	Weak transcription	Esophagus	oesophagus
13	chr13:110973000-110978400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:110973000-110978600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr13:110973800-110979800	Enhancers	Right Ventricle	heart
16	chr13:110973800-110982000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:110974000-110978800	Weak transcription	NHEK	skin
18	chr13:110974000-110993000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr13:110974200-110978000	Genic enhancers	Fetal Muscle Leg	muscle
20	chr13:110974200-110979800	Enhancers	Left Ventricle	heart
21	chr13:110974400-110978800	Enhancers	Spleen	Spleen
22	chr13:110974400-110979000	Enhancers	NHLF	lung
23	chr13:110974400-110979800	Enhancers	Right Atrium	heart
24	chr13:110974600-110977600	Enhancers	Lung	lung
25	chr13:110974600-110979800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr13:110974600-110979800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr13:110974800-110979000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr13:110975000-110978600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:110975000-110981600	Enhancers	Colon Smooth Muscle	Colon
30	chr13:110975400-110977600	Enhancers	Fetal Lung	lung
31	chr13:110975400-110981400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr13:110975600-110977600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr13:110976000-110979000	Weak transcription	Colonic Mucosa	Colon
34	chr13:110976200-110978400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr13:110976200-110978600	Weak transcription	A549	lung
36	chr13:110976200-110978800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr13:110976200-110982600	Weak transcription	HMEC	breast
38	chr13:110976400-110978400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr13:110976400-110978400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr13:110976400-110978800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr13:110976600-110978800	Genic enhancers	Adipose Nuclei	Adipose
42	chr13:110976600-110979200	Weak transcription	Stomach Mucosa	stomach
43	chr13:110976600-110982400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr13:110976800-110977800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr13:110976800-110977800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr13:110976800-110977800	Weak transcription	HSMMtube	muscle
47	chr13:110976800-110977800	Weak transcription	NHDF-Ad	bronchial
48	chr13:110976800-110978200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
49	chr13:110976800-110978400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr13:110976800-110978600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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