Variant report

Variant	rs12430390
Chromosome Location	chr13:110912920-110912921
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs56258703	0.92[EUR][1000 genomes]
rs58455864	0.92[EUR][1000 genomes]
rs595325	0.92[EUR][1000 genomes]
rs61963337	0.91[EUR][1000 genomes]
rs61963356	0.91[EUR][1000 genomes]
rs61963357	0.91[EUR][1000 genomes]
rs61963358	0.91[EUR][1000 genomes]
rs622253	0.92[EUR][1000 genomes]
rs623157	0.92[EUR][1000 genomes]
rs668149	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110882600-110913600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr13:110884800-110914000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:110897800-110914200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr13:110897800-110914800	Weak transcription	Stomach Mucosa	stomach
5	chr13:110900000-110916200	Weak transcription	A549	lung
6	chr13:110900400-110913600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr13:110900600-110913600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr13:110901000-110913600	Weak transcription	Fetal Intestine Large	intestine
9	chr13:110901000-110919400	Weak transcription	Fetal Brain Male	brain
10	chr13:110903000-110914000	Weak transcription	Fetal Intestine Small	intestine
11	chr13:110904200-110913600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:110904200-110914200	Weak transcription	Esophagus	oesophagus
13	chr13:110904200-110918200	Weak transcription	Pancreas	Pancrea
14	chr13:110906800-110914200	Weak transcription	Fetal Lung	lung
15	chr13:110906800-110915000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr13:110907400-110913600	Weak transcription	Fetal Kidney	kidney
17	chr13:110907800-110913400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr13:110907800-110913400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr13:110907800-110913600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr13:110908800-110913600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr13:110909000-110913600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr13:110909000-110914800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr13:110909200-110913400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr13:110909200-110913600	Weak transcription	Spleen	Spleen
25	chr13:110909200-110917800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:110910000-110913400	Weak transcription	Fetal Heart	heart
27	chr13:110910200-110914000	Weak transcription	Fetal Stomach	stomach
28	chr13:110910200-110914000	Weak transcription	Ovary	ovary
29	chr13:110911200-110913400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr13:110911200-110913800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr13:110911200-110915200	Enhancers	Adipose Nuclei	Adipose
32	chr13:110911200-110915800	Enhancers	NHEK	skin
33	chr13:110911200-110917200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr13:110911200-110924000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr13:110911600-110916200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr13:110911800-110913800	Weak transcription	HSMMtube	muscle
37	chr13:110911800-110918800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr13:110912000-110913000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr13:110912000-110913000	Enhancers	NH-A	brain
40	chr13:110912000-110913800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr13:110912000-110914000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr13:110912000-110914400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr13:110912200-110913000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr13:110912200-110913000	Enhancers	Aorta	Aorta
45	chr13:110912200-110913000	Genic enhancers	Fetal Muscle Leg	muscle
46	chr13:110912200-110913200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:110912200-110915800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr13:110912200-110924000	Enhancers	Left Ventricle	heart
49	chr13:110912400-110913200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr13:110912400-110913400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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