Variant report

Variant	rs10492458
Chromosome Location	chr13:30339472-30339473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11147399	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs17625384	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17631187	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs278050	0.81[CHD][hapmap]
rs278051	1.00[CEU][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.92[TSI][hapmap]
rs7326521	0.89[EUR][1000 genomes]
rs745473	0.89[EUR][1000 genomes]
rs9550497	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9550500	1.00[CEU][hapmap]
rs9551735	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9551740	1.00[CEU][hapmap];0.93[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9551742	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9551746	1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9551747	0.84[ASN][1000 genomes]
rs9634356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs980524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.87[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	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30324600-30340400	Weak transcription	Adipose Nuclei	Adipose
2	chr13:30326600-30343200	Weak transcription	Spleen	Spleen
3	chr13:30328400-30340600	Weak transcription	NHLF	lung
4	chr13:30328600-30341200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr13:30328800-30340400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:30328800-30340400	Weak transcription	Brain Hippocampus Middle	brain
7	chr13:30328800-30340800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr13:30328800-30347800	Weak transcription	Fetal Kidney	kidney
9	chr13:30328800-30351800	Weak transcription	NH-A	brain
10	chr13:30328800-30352600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:30329200-30340000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr13:30329200-30340600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:30329200-30351200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr13:30330600-30355000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr13:30333000-30340600	Weak transcription	Fetal Thymus	thymus
16	chr13:30333000-30340600	Weak transcription	Thymus	Thymus
17	chr13:30333200-30340200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr13:30333200-30340600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr13:30333200-30353800	Weak transcription	Gastric	stomach
20	chr13:30333200-30360200	Weak transcription	Pancreas	Pancrea
21	chr13:30333200-30368200	Weak transcription	Aorta	Aorta
22	chr13:30333400-30340400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr13:30333400-30340600	Weak transcription	Placenta	Placenta
24	chr13:30333400-30345800	Weak transcription	HepG2	liver
25	chr13:30333400-30357000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr13:30333600-30340000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr13:30333600-30340400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr13:30333600-30340600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr13:30333600-30376200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr13:30334800-30340800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr13:30335200-30356800	Weak transcription	GM12878-XiMat	blood
32	chr13:30335400-30349800	Weak transcription	Fetal Stomach	stomach
33	chr13:30335600-30340600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr13:30335800-30340600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr13:30336000-30340600	Weak transcription	Left Ventricle	heart
36	chr13:30336000-30343000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr13:30336200-30340400	Weak transcription	Liver	Liver
38	chr13:30336200-30340600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr13:30336200-30340600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr13:30336400-30340600	Weak transcription	Fetal Lung	lung
41	chr13:30336400-30357000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr13:30336600-30353800	Weak transcription	Psoas Muscle	Psoas
43	chr13:30336800-30340000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr13:30336800-30340600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr13:30337000-30340600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr13:30337400-30339800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr13:30337600-30363000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr13:30337800-30339600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr13:30337800-30340600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr13:30337800-30342800	Weak transcription	Esophagus	oesophagus

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