Variant report

Variant	rs12583454
Chromosome Location	chr13:110416505-110416506
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	chr13:110414170..110416819-chr13:110432906..110435378,2	K562	blood:
2	chr13:110411444..110413662-chr13:110413708..110416940,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1044364	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12583444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12584136	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7982446	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv526943	chr13:110393477-110421884	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	nsv563072	chr13:110415013-110418971	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv3520397	chr13:110416151-110421049	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv3520408	chr13:110416151-110421049	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110396600-110417000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr13:110396800-110417000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr13:110397000-110428800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr13:110397200-110430400	Weak transcription	NHLF	lung
5	chr13:110397400-110419400	Weak transcription	Lung	lung
6	chr13:110401800-110430800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr13:110403200-110416800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr13:110403200-110430600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr13:110405000-110416600	Weak transcription	Small Intestine	intestine
10	chr13:110406200-110429400	Weak transcription	Primary B cells from cord blood	blood
11	chr13:110407400-110423400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:110408600-110416600	Weak transcription	Fetal Muscle Leg	muscle
13	chr13:110408600-110416800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr13:110408600-110416800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:110408600-110417000	Weak transcription	NH-A	brain
16	chr13:110408600-110417200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr13:110408600-110417400	Weak transcription	Fetal Stomach	stomach
18	chr13:110408600-110421600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:110408600-110422800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr13:110408600-110423800	Weak transcription	Placenta	Placenta
21	chr13:110408600-110424400	Weak transcription	Spleen	Spleen
22	chr13:110408600-110430400	Weak transcription	Colonic Mucosa	Colon
23	chr13:110408800-110416800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:110408800-110416800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr13:110408800-110417000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr13:110408800-110417000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr13:110408800-110420800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr13:110408800-110421400	Weak transcription	Fetal Intestine Large	intestine
29	chr13:110408800-110421800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr13:110408800-110422800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr13:110408800-110423600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr13:110409000-110416600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr13:110409000-110417000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr13:110409000-110422600	Weak transcription	Fetal Lung	lung
35	chr13:110409000-110431200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr13:110409200-110416800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr13:110409200-110417000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr13:110409200-110422200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr13:110409200-110422600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr13:110409200-110423000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr13:110409400-110417000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr13:110409400-110429800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr13:110409400-110430200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr13:110411200-110417000	Enhancers	Brain Anterior Caudate	brain
45	chr13:110411200-110417800	Enhancers	Fetal Brain Male	brain
46	chr13:110411400-110416800	Enhancers	Brain Substantia Nigra	brain
47	chr13:110411400-110417400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr13:110411400-110417600	Genic enhancers	Muscle Satellite Cultured Cells	--
49	chr13:110411600-110417000	Enhancers	Brain Hippocampus Middle	brain
50	chr13:110411600-110417200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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