Variant report

Variant	rs59204074
Chromosome Location	chr15:41063558-41063559
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:41063502-41063634	K562	blood:	n/a	n/a
2	EP300	chr15:41063503-41064549	SK-N-SH	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40987273..40988882-chr15:41061961..41063775,2	K562	blood:
2	chr15:41058708..41062204-chr15:41062731..41065541,5	K562	blood:
3	chr15:41062391..41066610-chr15:41066936..41069911,4	MCF-7	breast:
4	chr15:41024400..41027311-chr15:41063021..41065498,2	K562	blood:
5	chr15:41054628..41058503-chr15:41058814..41065530,15	K562	blood:
6	chr15:41035825..41037680-chr15:41060818..41063658,2	K562	blood:

No data

Variant related genes	Relation type
DNAJC17	TF binding region
ENSG00000051180	Chromatin interaction
ENSG00000137880	Chromatin interaction
ENSG00000245849	Chromatin interaction
ENSG00000104129	Chromatin interaction
ENSG00000188277	Chromatin interaction
ENSG00000137824	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs28436138	1.00[AMR][1000 genomes]
rs55851751	1.00[AMR][1000 genomes]
rs56020318	1.00[AMR][1000 genomes]
rs57022654	1.00[AMR][1000 genomes]
rs58893179	1.00[AMR][1000 genomes]
rs59096643	1.00[AMR][1000 genomes]
rs60163307	1.00[AMR][1000 genomes]
rs61336574	1.00[AMR][1000 genomes]
rs7162253	1.00[AMR][1000 genomes]
rs7162308	1.00[AMR][1000 genomes]
rs7167831	1.00[AMR][1000 genomes]
rs7168217	1.00[AMR][1000 genomes]
rs7178058	1.00[AMR][1000 genomes]
rs74011889	1.00[AMR][1000 genomes]
rs74011890	1.00[AMR][1000 genomes]
rs74011893	1.00[AMR][1000 genomes]
rs74011933	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74011936	1.00[AMR][1000 genomes]
rs74014709	1.00[AMR][1000 genomes]
rs74014710	1.00[AMR][1000 genomes]
rs8030883	1.00[AMR][1000 genomes]
rs8037717	1.00[AMR][1000 genomes]
rs8037881	1.00[AMR][1000 genomes]
rs8039169	1.00[AMR][1000 genomes]
rs9672224	1.00[AMR][1000 genomes]
rs9744142	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053173	chr15:40933163-41094127	Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv542363	chr15:40933163-41094127	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription 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 miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv904102	chr15:41046883-41201699	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41057200-41063800	Weak transcription	Colon Smooth Muscle	Colon
2	chr15:41057200-41065400	Weak transcription	Brain Angular Gyrus	brain
3	chr15:41057200-41068200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:41057400-41070800	Weak transcription	Psoas Muscle	Psoas
5	chr15:41057600-41063800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr15:41057600-41066600	Weak transcription	Fetal Heart	heart
7	chr15:41057600-41067400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:41058000-41069000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr15:41058200-41066800	Weak transcription	Fetal Kidney	kidney
10	chr15:41058200-41067400	Weak transcription	A549	lung
11	chr15:41058400-41068800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr15:41058600-41063600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:41058600-41065600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:41058600-41072400	Strong transcription	Placenta	Placenta
15	chr15:41059000-41065400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr15:41059000-41065600	Weak transcription	NHDF-Ad	bronchial
17	chr15:41059200-41072400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:41059400-41063800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr15:41059400-41066800	Weak transcription	K562	blood
20	chr15:41059600-41063600	Weak transcription	Osteobl	bone
21	chr15:41059600-41064000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
22	chr15:41059600-41065400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr15:41059600-41066600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr15:41059600-41066600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr15:41059600-41069000	Strong transcription	NHLF	lung
26	chr15:41059800-41064800	Weak transcription	Ovary	ovary
27	chr15:41059800-41066200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr15:41059800-41072600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr15:41060000-41065400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr15:41060000-41072800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr15:41060400-41064000	Genic enhancers	Fetal Thymus	thymus
32	chr15:41060400-41065400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr15:41060800-41064400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr15:41060800-41065000	Genic enhancers	Liver	Liver
35	chr15:41061000-41064400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr15:41061200-41064800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr15:41061200-41065600	Weak transcription	Small Intestine	intestine
38	chr15:41061400-41063600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr15:41061600-41064000	Enhancers	Fetal Muscle Leg	muscle
40	chr15:41061600-41064800	Weak transcription	Fetal Lung	lung
41	chr15:41061800-41064000	Enhancers	Primary hematopoietic stem cells	blood
42	chr15:41061800-41065200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr15:41062000-41064200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr15:41062200-41064800	Weak transcription	Brain Substantia Nigra	brain
45	chr15:41062200-41069400	Strong transcription	Aorta	Aorta
46	chr15:41062200-41072600	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr15:41062200-41072600	Strong transcription	Fetal Brain Female	brain
48	chr15:41062200-41072600	Strong transcription	Right Ventricle	heart
49	chr15:41062200-41072600	Strong transcription	Stomach Smooth Muscle	stomach
50	chr15:41062200-41072800	Strong transcription	Fetal Stomach	stomach

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