Variant report

Variant	rs12428412
Chromosome Location	chr13:110997600-110997601
allele	A/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]
rs11069840	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs12428149	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7327728	1.00[JPT][hapmap]
rs9645914	1.00[CHB][hapmap]

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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110972600-111007200	Weak transcription	Gastric	stomach
2	chr13:110980200-111002800	Weak transcription	Fetal Brain Male	brain
3	chr13:110989800-110999200	Weak transcription	Pancreas	Pancrea
4	chr13:110992000-110999200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr13:110992000-111001600	Weak transcription	Brain Substantia Nigra	brain
6	chr13:110993800-111000600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:110993800-111007200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr13:110994000-110999800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:110994000-110999800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr13:110994000-111004400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr13:110994000-111019600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr13:110994200-110998000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr13:110994200-110999000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr13:110994200-110999000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr13:110994200-110999200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:110994200-110999200	Weak transcription	HSMM	muscle
17	chr13:110994200-110999400	Weak transcription	Fetal Intestine Large	intestine
18	chr13:110994200-110999600	Weak transcription	HSMMtube	muscle
19	chr13:110994400-110998600	Weak transcription	NHLF	lung
20	chr13:110994400-110998800	Weak transcription	NHDF-Ad	bronchial
21	chr13:110994400-110999400	Weak transcription	Fetal Intestine Small	intestine
22	chr13:110994400-111002800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr13:110994400-111007200	Weak transcription	Fetal Kidney	kidney
24	chr13:110994600-110998800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr13:110994800-110999600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:110995000-110999000	Weak transcription	Adipose Nuclei	Adipose
27	chr13:110995200-110998400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr13:110995200-110998400	Weak transcription	Placenta	Placenta
29	chr13:110995200-110999000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr13:110995200-111005200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr13:110995200-111007000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr13:110995400-111004200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr13:110995600-111005800	Weak transcription	Fetal Lung	lung
34	chr13:110995800-110997800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr13:110995800-110997800	Weak transcription	A549	lung
36	chr13:110996000-110998000	Weak transcription	Right Ventricle	heart
37	chr13:110996000-110998000	Weak transcription	Spleen	Spleen
38	chr13:110996000-110998200	Weak transcription	Lung	lung
39	chr13:110996000-110998200	Enhancers	Rectal Smooth Muscle	rectum
40	chr13:110996000-110998800	Strong transcription	Osteobl	bone
41	chr13:110996000-110999000	Weak transcription	Hela-S3	cervix
42	chr13:110996000-110999200	Weak transcription	Ovary	ovary
43	chr13:110996000-110999200	Weak transcription	Right Atrium	heart
44	chr13:110996000-110999400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr13:110996000-110999600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr13:110996000-110999600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr13:110996000-111009800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr13:110996200-110997800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr13:110996200-110997800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr13:110996200-110998000	Weak transcription	Fetal Heart	heart

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