Variant report

Variant	rs9521714
Chromosome Location	chr13:111011391-111011392
allele	C/T
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]
rs12876517	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2094700	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2104722	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4773166	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4773167	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9515194	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[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:77 , 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	chr13:111000600-111013800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr13:111000800-111019800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr13:111001600-111012200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:111002000-111015200	Weak transcription	Brain Substantia Nigra	brain
6	chr13:111002400-111026000	Weak transcription	Psoas Muscle	Psoas
7	chr13:111004600-111012000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr13:111005000-111012400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr13:111006000-111013000	Weak transcription	Spleen	Spleen
10	chr13:111007200-111012200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr13:111007400-111023000	Weak transcription	A549	lung
12	chr13:111007600-111013200	Weak transcription	Fetal Lung	lung
13	chr13:111007600-111013200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr13:111007600-111020400	Weak transcription	Fetal Kidney	kidney
15	chr13:111007600-111030600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr13:111007600-111031000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr13:111007600-111031400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr13:111007800-111013000	Weak transcription	Colonic Mucosa	Colon
19	chr13:111007800-111013600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr13:111007800-111018000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:111008000-111011600	Strong transcription	Fetal Stomach	stomach
22	chr13:111008200-111012000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:111008400-111011800	Strong transcription	Fetal Muscle Leg	muscle
24	chr13:111008400-111020000	Weak transcription	HMEC	breast
25	chr13:111008600-111018000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr13:111008800-111013200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:111008800-111015400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr13:111009000-111011400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr13:111009000-111011800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr13:111009000-111012000	Weak transcription	Right Atrium	heart
31	chr13:111009000-111012200	Strong transcription	Adipose Nuclei	Adipose
32	chr13:111009000-111013200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr13:111009000-111014200	Weak transcription	Esophagus	oesophagus
34	chr13:111009000-111018000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr13:111009000-111024000	Weak transcription	Pancreas	Pancrea
36	chr13:111009000-111029400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr13:111009200-111011800	Strong transcription	Osteobl	bone
38	chr13:111009600-111011400	Strong transcription	Placenta	Placenta
39	chr13:111009600-111011600	Strong transcription	NH-A	brain
40	chr13:111009600-111012200	Weak transcription	Lung	lung
41	chr13:111009600-111013000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr13:111009800-111011400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr13:111009800-111011400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr13:111009800-111011600	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr13:111009800-111011600	Strong transcription	NHLF	lung
46	chr13:111009800-111011800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr13:111009800-111011800	Strong transcription	HUVEC	blood vessel
48	chr13:111009800-111012200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr13:111009800-111012400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr13:111009800-111012400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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