Variant report

Variant	rs12876517
Chromosome Location	chr13:111009643-111009644
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2094700	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2104722	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4773166	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4773167	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9515194	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9521714	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][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	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

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110994000-111019600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:110996000-111009800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr13:111000000-111009800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:111000600-111013800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:111000800-111019800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:111001000-111009800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr13:111001200-111009800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:111001600-111012200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:111001800-111009800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:111001800-111009800	Weak transcription	NHLF	lung
11	chr13:111002000-111010400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr13:111002000-111015200	Weak transcription	Brain Substantia Nigra	brain
13	chr13:111002400-111009800	Weak transcription	HSMMtube	muscle
14	chr13:111002400-111026000	Weak transcription	Psoas Muscle	Psoas
15	chr13:111003200-111009800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:111003200-111009800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr13:111003400-111009800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:111004400-111009800	Weak transcription	HUVEC	blood vessel
19	chr13:111004600-111009800	Weak transcription	NHEK	skin
20	chr13:111004600-111012000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr13:111005000-111012400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr13:111005400-111009800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr13:111005600-111009800	Weak transcription	Ovary	ovary
24	chr13:111006000-111013000	Weak transcription	Spleen	Spleen
25	chr13:111006800-111010800	Weak transcription	HSMM	muscle
26	chr13:111007200-111012200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr13:111007400-111010400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr13:111007400-111023000	Weak transcription	A549	lung
29	chr13:111007600-111009800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr13:111007600-111013200	Weak transcription	Fetal Lung	lung
31	chr13:111007600-111013200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr13:111007600-111020400	Weak transcription	Fetal Kidney	kidney
33	chr13:111007600-111030600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr13:111007600-111031000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr13:111007600-111031400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr13:111007800-111009800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr13:111007800-111009800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr13:111007800-111010000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr13:111007800-111010400	Weak transcription	Fetal Intestine Large	intestine
40	chr13:111007800-111013000	Weak transcription	Colonic Mucosa	Colon
41	chr13:111007800-111013600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr13:111007800-111018000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr13:111008000-111011600	Strong transcription	Fetal Stomach	stomach
44	chr13:111008200-111012000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr13:111008400-111011800	Strong transcription	Fetal Muscle Leg	muscle
46	chr13:111008400-111020000	Weak transcription	HMEC	breast
47	chr13:111008600-111011000	Strong transcription	Fetal Intestine Small	intestine
48	chr13:111008600-111018000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr13:111008800-111009800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr13:111008800-111013200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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