Variant report

Variant	rs12585289
Chromosome Location	chr13:111067420-111067421
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10161705	0.81[ASN][1000 genomes]
rs10851243	0.84[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs12868443	0.81[ASN][1000 genomes]
rs1536622	0.85[CEU][hapmap]
rs61963219	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6492270	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9515209	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9555698	0.81[CHB][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9559794	0.85[CEU][hapmap]
rs9588155	0.81[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	esv2751128	chr13:111040798-111132490	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111050200-111075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:111057800-111070400	Enhancers	Right Atrium	heart
3	chr13:111060200-111082800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:111061000-111077000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr13:111061600-111069200	Weak transcription	Fetal Brain Male	brain
6	chr13:111062000-111069000	Enhancers	Left Ventricle	heart
7	chr13:111062800-111068400	Weak transcription	Gastric	stomach
8	chr13:111063800-111080800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr13:111064200-111078000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr13:111064400-111068200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr13:111064400-111069800	Weak transcription	Small Intestine	intestine
12	chr13:111064600-111068000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr13:111064800-111069800	Weak transcription	GM12878-XiMat	blood
14	chr13:111064800-111071800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr13:111065000-111070400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr13:111065000-111071000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr13:111065000-111071400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:111065000-111077000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr13:111065000-111077400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr13:111065200-111067800	Weak transcription	HMEC	breast
21	chr13:111065200-111068000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:111065200-111068200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr13:111065200-111068200	Weak transcription	Pancreas	Pancrea
24	chr13:111065200-111068400	Weak transcription	Brain Anterior Caudate	brain
25	chr13:111065200-111068600	Enhancers	Fetal Heart	heart
26	chr13:111065200-111068800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr13:111065200-111071200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr13:111065200-111071600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr13:111065200-111077000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr13:111065200-111077400	Weak transcription	Fetal Kidney	kidney
31	chr13:111065200-111082800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr13:111065400-111067800	Weak transcription	NHEK	skin
33	chr13:111065400-111068000	Weak transcription	Psoas Muscle	Psoas
34	chr13:111065400-111068200	Weak transcription	Fetal Intestine Large	intestine
35	chr13:111065400-111068200	Genic enhancers	Stomach Smooth Muscle	stomach
36	chr13:111065400-111068400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr13:111065600-111067600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr13:111065600-111068000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr13:111065600-111068400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr13:111065600-111068400	Weak transcription	Fetal Lung	lung
41	chr13:111065600-111068800	Strong transcription	Fetal Intestine Small	intestine
42	chr13:111065800-111067800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr13:111065800-111068000	Weak transcription	Colon Smooth Muscle	Colon
44	chr13:111065800-111068200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr13:111065800-111068200	Weak transcription	Hela-S3	cervix
46	chr13:111065800-111068200	Strong transcription	Osteobl	bone
47	chr13:111066000-111067800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr13:111066000-111068000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr13:111066000-111068000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr13:111066000-111068000	Weak transcription	Adipose Nuclei	Adipose

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