Variant report

Variant	rs59604593
Chromosome Location	chr15:43210423-43210424
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	chr15:43204600..43210679-chr15:43210946..43214208,10	K562	blood:

Variant related genes	Relation type
ENSG00000128881	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56867264	1.00[AMR][1000 genomes]
rs56867668	1.00[AMR][1000 genomes]
rs57481952	1.00[AMR][1000 genomes]
rs59913051	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74009211	1.00[AMR][1000 genomes]
rs74009217	1.00[AMR][1000 genomes]
rs74009222	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74009224	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74009228	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050128	chr15:43056145-43262736	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542368	chr15:43056145-43262736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv904134	chr15:43097652-43357406	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv515876	chr15:43116906-43445305	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv904135	chr15:43143998-43392075	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1036512	chr15:43164906-43274531	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3366604	chr15:43172709-43210677	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv569239	chr15:43201109-43392075	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv569240	chr15:43201109-43445305	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
13	nsv1039587	chr15:43204351-43378274	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv569242	chr15:43210030-43445305	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43183200-43211600	Weak transcription	Left Ventricle	heart
2	chr15:43187000-43211600	Weak transcription	Fetal Muscle Leg	muscle
3	chr15:43187200-43210600	Weak transcription	Primary T cells from cord blood	blood
4	chr15:43189200-43211600	Weak transcription	Fetal Intestine Small	intestine
5	chr15:43196000-43211600	Weak transcription	Small Intestine	intestine
6	chr15:43196200-43211400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr15:43196400-43211600	Weak transcription	Right Atrium	heart
8	chr15:43196400-43211600	Weak transcription	Right Ventricle	heart
9	chr15:43196600-43211800	Weak transcription	Fetal Stomach	stomach
10	chr15:43201000-43211600	Weak transcription	Aorta	Aorta
11	chr15:43202200-43211600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr15:43203800-43211600	Weak transcription	Placenta	Placenta
13	chr15:43203800-43211600	Weak transcription	Spleen	Spleen
14	chr15:43204200-43211400	Weak transcription	Fetal Heart	heart
15	chr15:43207600-43210600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:43207600-43210600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr15:43207600-43210800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:43207600-43211200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr15:43207600-43211200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr15:43207600-43211200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr15:43207600-43211400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr15:43207600-43211400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr15:43207600-43211400	Weak transcription	Brain Anterior Caudate	brain
24	chr15:43207600-43211400	Weak transcription	Fetal Kidney	kidney
25	chr15:43207600-43211600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr15:43207600-43211600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr15:43207600-43211600	Weak transcription	Fetal Thymus	thymus
28	chr15:43207600-43211600	Weak transcription	Thymus	Thymus
29	chr15:43207600-43211600	Weak transcription	HSMM	muscle
30	chr15:43207600-43212000	Weak transcription	Ovary	ovary
31	chr15:43207800-43210600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr15:43207800-43210800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr15:43207800-43210800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr15:43207800-43210800	Weak transcription	A549	lung
35	chr15:43207800-43211200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr15:43207800-43211400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr15:43207800-43211400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr15:43207800-43211400	Weak transcription	Osteobl	bone
39	chr15:43207800-43211600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr15:43207800-43211600	Weak transcription	Brain Hippocampus Middle	brain
41	chr15:43208000-43210600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr15:43208000-43210600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr15:43208000-43211400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr15:43208000-43211400	Weak transcription	Liver	Liver
45	chr15:43208000-43211400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr15:43208000-43211600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr15:43208000-43211600	Weak transcription	Brain Substantia Nigra	brain
48	chr15:43208200-43211200	Weak transcription	Primary B cells from cord blood	blood
49	chr15:43208200-43211600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr15:43208200-43212000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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