Variant report

Variant	rs9583423
Chromosome Location	chr13:110430294-110430295
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110404473..110407455-chr13:110429957..110432658,3	K562	blood:

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

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

rs_ID	r²[population]
rs12584954	0.96[AFR][1000 genomes]
rs73608710	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9301409	1.00[AMR][1000 genomes]
rs9587980	0.85[AMR][1000 genomes]
rs9587982	1.00[AMR][1000 genomes]
rs9587983	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv826788	chr13:110381750-110469062	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv826789	chr13:110387268-110473524	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv826790	chr13:110395165-110463032	Weak transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv826791	chr13:110397733-110462553	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv826792	chr13:110398678-110462209	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1047427	chr13:110412864-110446417	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv826793	chr13:110423187-110448628	Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv826794	chr13:110424916-110448628	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
9	nsv826795	chr13:110425465-110448628	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110397200-110430400	Weak transcription	NHLF	lung
2	chr13:110401800-110430800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:110403200-110430600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr13:110408600-110430400	Weak transcription	Colonic Mucosa	Colon
5	chr13:110409000-110431200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr13:110413400-110430400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr13:110413600-110430800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr13:110416000-110430800	Weak transcription	Fetal Kidney	kidney
9	chr13:110417000-110432400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr13:110417200-110430400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr13:110417200-110431600	Weak transcription	Fetal Muscle Leg	muscle
12	chr13:110417600-110430400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:110417600-110430400	Weak transcription	Thymus	Thymus
14	chr13:110417600-110430600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr13:110423000-110433400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:110423200-110430400	Weak transcription	NHDF-Ad	bronchial
17	chr13:110423200-110433200	Weak transcription	Gastric	stomach
18	chr13:110423600-110431000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr13:110424800-110430800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:110424800-110431000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:110424800-110433200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:110425000-110430600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr13:110425000-110430800	Weak transcription	Lung	lung
24	chr13:110425000-110431000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr13:110425000-110431400	Weak transcription	Placenta	Placenta
26	chr13:110425000-110432000	Weak transcription	Fetal Stomach	stomach
27	chr13:110425000-110433400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr13:110425000-110433400	Weak transcription	Esophagus	oesophagus
29	chr13:110425000-110433400	Weak transcription	Pancreas	Pancrea
30	chr13:110425000-110433400	Weak transcription	Spleen	Spleen
31	chr13:110425400-110432600	Weak transcription	Fetal Intestine Small	intestine
32	chr13:110426000-110430600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr13:110427600-110430600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr13:110428200-110433400	Active TSS	Right Ventricle	heart
35	chr13:110428600-110430400	Enhancers	Brain Cingulate Gyrus	brain
36	chr13:110428600-110431800	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr13:110428600-110434200	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr13:110428800-110430400	Enhancers	Brain Angular Gyrus	brain
39	chr13:110428800-110430400	Enhancers	NH-A	brain
40	chr13:110428800-110430600	Genic enhancers	HSMM	muscle
41	chr13:110428800-110430600	Enhancers	NHEK	skin
42	chr13:110428800-110430800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr13:110428800-110430800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr13:110428800-110431200	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr13:110428800-110431400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr13:110428800-110431400	Enhancers	Dnd41	blood
47	chr13:110428800-110431600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr13:110428800-110433600	Enhancers	Fetal Heart	heart
49	chr13:110428800-110437800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
50	chr13:110429000-110430400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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