Variant report

Variant	rs2094701
Chromosome Location	chr13:111010078-111010079
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10161783	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10161785	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10220229	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs4771671	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4771672	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7358800	1.00[CEU][hapmap];0.84[CHB][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9301450	0.85[ASN][1000 genomes]
rs9521713	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9555690	0.90[CEU][hapmap];0.84[CHB][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9555691	0.82[CEU][hapmap];0.80[CHB][hapmap];0.85[EUR][1000 genomes]
rs9559772	0.84[CHB][hapmap]
rs9559773	0.84[CHB][hapmap]
rs9559775	0.85[CHB][hapmap];0.90[JPT][hapmap]

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	chr13:111000600-111013800	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	chr13:111002000-111010400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr13:111002000-111015200	Weak transcription	Brain Substantia Nigra	brain
7	chr13:111002400-111026000	Weak transcription	Psoas Muscle	Psoas
8	chr13:111004600-111012000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr13:111005000-111012400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr13:111006000-111013000	Weak transcription	Spleen	Spleen
11	chr13:111006800-111010800	Weak transcription	HSMM	muscle
12	chr13:111007200-111012200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr13:111007400-111010400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr13:111007400-111023000	Weak transcription	A549	lung
15	chr13:111007600-111013200	Weak transcription	Fetal Lung	lung
16	chr13:111007600-111013200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr13:111007600-111020400	Weak transcription	Fetal Kidney	kidney
18	chr13:111007600-111030600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr13:111007600-111031000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr13:111007600-111031400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr13:111007800-111010400	Weak transcription	Fetal Intestine Large	intestine
22	chr13:111007800-111013000	Weak transcription	Colonic Mucosa	Colon
23	chr13:111007800-111013600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr13:111007800-111018000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr13:111008000-111011600	Strong transcription	Fetal Stomach	stomach
26	chr13:111008200-111012000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr13:111008400-111011800	Strong transcription	Fetal Muscle Leg	muscle
28	chr13:111008400-111020000	Weak transcription	HMEC	breast
29	chr13:111008600-111011000	Strong transcription	Fetal Intestine Small	intestine
30	chr13:111008600-111018000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr13:111008800-111013200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr13:111008800-111015400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr13:111009000-111010200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr13:111009000-111010400	Weak transcription	Aorta	Aorta
35	chr13:111009000-111010600	Weak transcription	Right Ventricle	heart
36	chr13:111009000-111011400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr13:111009000-111011800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr13:111009000-111012000	Weak transcription	Right Atrium	heart
39	chr13:111009000-111012200	Strong transcription	Adipose Nuclei	Adipose
40	chr13:111009000-111013200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr13:111009000-111014200	Weak transcription	Esophagus	oesophagus
42	chr13:111009000-111018000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr13:111009000-111024000	Weak transcription	Pancreas	Pancrea
44	chr13:111009000-111029400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr13:111009200-111011000	Strong transcription	Fetal Muscle Trunk	muscle
46	chr13:111009200-111011800	Strong transcription	Osteobl	bone
47	chr13:111009400-111010400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr13:111009600-111011000	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr13:111009600-111011200	Weak transcription	Fetal Heart	heart
50	chr13:111009600-111011400	Strong transcription	Placenta	Placenta

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