Variant report

Variant	rs59517595
Chromosome Location	chr13:95932107-95932108
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95931327..95933216-chr13:95948298..95949937,2	K562	blood:
2	chr13:95929149..95932336-chr13:95935085..95938343,4	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs56891151	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57865776	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58423375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58751681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59514866	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59742238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60211292	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60577821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60769464	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60895967	1.00[AMR][1000 genomes]
rs61177274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61353550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6492773	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7323903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7324277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7325419	1.00[AMR][1000 genomes]
rs7338478	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73546891	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548810	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548830	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548833	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548855	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73548871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551406	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73551407	1.00[AMR][1000 genomes]
rs73551420	1.00[AMR][1000 genomes]
rs7987823	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1043019	chr13:95924585-96152616	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv900926	chr13:95927386-95972496	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv900927	chr13:95927386-95975185	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv900928	chr13:95929326-95946640	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv456078	chr13:95929888-95972496	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv562770	chr13:95929888-95972496	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv900929	chr13:95930072-95972496	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv900930	chr13:95930072-95975185	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1037673	chr13:95930191-96146554	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv541882	chr13:95930191-96146554	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv900931	chr13:95930685-95972496	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1039391	chr13:95931369-96038728	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv471169	chr13:95931992-95972496	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv517610	chr13:95931992-96035883	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95913600-95932800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr13:95920200-95952800	Weak transcription	Aorta	Aorta
3	chr13:95923800-95941200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr13:95924200-95932800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr13:95924600-95952600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr13:95924800-95932200	Weak transcription	HUVEC	blood vessel
7	chr13:95925800-95932200	Weak transcription	Psoas Muscle	Psoas
8	chr13:95926600-95952400	Weak transcription	Brain Hippocampus Middle	brain
9	chr13:95926800-95932800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr13:95926800-95948600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr13:95927000-95932800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr13:95927000-95937800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr13:95927000-95938000	Weak transcription	Colonic Mucosa	Colon
14	chr13:95927200-95941600	Weak transcription	Gastric	stomach
15	chr13:95928400-95932600	Weak transcription	HSMMtube	muscle
16	chr13:95928400-95932600	Weak transcription	NH-A	brain
17	chr13:95928400-95933800	Weak transcription	Fetal Kidney	kidney
18	chr13:95928400-95934000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:95928400-95937600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr13:95928400-95937800	Weak transcription	Fetal Intestine Small	intestine
21	chr13:95928600-95932200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr13:95928600-95932200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr13:95928600-95932200	Weak transcription	HSMM	muscle
24	chr13:95928600-95932800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr13:95928600-95932800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr13:95928600-95932800	Weak transcription	Osteobl	bone
27	chr13:95928600-95933000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr13:95928600-95933200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr13:95928800-95932200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr13:95928800-95932600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr13:95928800-95932800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr13:95928800-95932800	Weak transcription	Fetal Stomach	stomach
33	chr13:95928800-95932800	Weak transcription	NHEK	skin
34	chr13:95929000-95932200	Weak transcription	Colon Smooth Muscle	Colon
35	chr13:95929000-95932800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr13:95929000-95932800	Weak transcription	Fetal Lung	lung
37	chr13:95929000-95933800	Weak transcription	Small Intestine	intestine
38	chr13:95929200-95932800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr13:95930600-95933200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr13:95930800-95932400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr13:95931200-95932400	Enhancers	Spleen	Spleen
42	chr13:95931400-95932600	Genic enhancers	NHLF	lung
43	chr13:95931400-95934000	Genic enhancers	K562	blood
44	chr13:95931600-95932600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr13:95931600-95932800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr13:95931800-95932200	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr13:95931800-95932600	Enhancers	GM12878-XiMat	blood
48	chr13:95931800-95933000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr13:95931800-95933000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr13:95931800-95934000	Enhancers	A549	lung

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