Variant report

Variant	rs6492224
Chromosome Location	chr13:110405372-110405373
allele	G/T
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:
2	chr13:110403771..110406116-chr13:110433660..110436383,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1034104	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11843936	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1865434	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2039208	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2099435	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2241745	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4771643	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6492225	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7317721	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7321293	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7327790	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7336057	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7984010	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7987237	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs913953	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044855	chr13:110301572-110408608	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110396400-110416400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr13:110396600-110407400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr13:110396600-110407400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr13:110396600-110411800	Weak transcription	Fetal Kidney	kidney
5	chr13:110396600-110412200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr13:110396600-110412800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr13:110396600-110417000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr13:110396800-110405800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr13:110396800-110406600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr13:110396800-110411200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr13:110396800-110417000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr13:110397000-110405400	Weak transcription	Hela-S3	cervix
13	chr13:110397000-110405600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr13:110397000-110406200	Weak transcription	NHDF-Ad	bronchial
15	chr13:110397000-110407400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr13:110397000-110407400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr13:110397000-110407800	Weak transcription	Fetal Thymus	thymus
18	chr13:110397000-110416400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr13:110397000-110428800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr13:110397200-110406600	Weak transcription	NH-A	brain
21	chr13:110397200-110407400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr13:110397200-110407800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr13:110397200-110408000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr13:110397200-110411400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr13:110397200-110430400	Weak transcription	NHLF	lung
26	chr13:110397400-110405600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr13:110397400-110405600	Weak transcription	Fetal Brain Male	brain
28	chr13:110397400-110405600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr13:110397400-110406200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr13:110397400-110407200	Weak transcription	Fetal Intestine Small	intestine
31	chr13:110397400-110407400	Weak transcription	Brain Anterior Caudate	brain
32	chr13:110397400-110408000	Weak transcription	Spleen	Spleen
33	chr13:110397400-110409200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr13:110397400-110411400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr13:110397400-110419400	Weak transcription	Lung	lung
36	chr13:110397600-110405600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr13:110397600-110405600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr13:110397600-110405600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr13:110397600-110407800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr13:110397800-110407600	Weak transcription	Colonic Mucosa	Colon
41	chr13:110397800-110407800	Weak transcription	Fetal Muscle Leg	muscle
42	chr13:110398600-110409000	Weak transcription	Fetal Heart	heart
43	chr13:110401600-110405600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr13:110401600-110405600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr13:110401800-110405800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr13:110401800-110430800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr13:110402200-110413200	Strong transcription	HSMM	muscle
48	chr13:110402400-110407200	Weak transcription	Fetal Stomach	stomach
49	chr13:110402400-110408000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr13:110402600-110409600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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