Variant report

Variant	rs74017478
Chromosome Location	chr15:56462045-56462046
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	chr15:56460981..56464277-chr15:56465842..56468866,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs56775211	1.00[AMR][1000 genomes]
rs57664818	0.80[AFR][1000 genomes]
rs58074377	0.81[AFR][1000 genomes]
rs60409860	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61176298	0.85[AFR][1000 genomes]
rs61387999	1.00[AMR][1000 genomes]
rs7163119	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7169697	0.86[AFR][1000 genomes]
rs7171643	0.80[AFR][1000 genomes]
rs73409483	0.85[AFR][1000 genomes]
rs73409498	1.00[AMR][1000 genomes]
rs74017486	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74018319	0.91[AFR][1000 genomes]
rs74018632	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833018	chr15:56325799-56492535	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1045906	chr15:56333180-56473614	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv1811079	chr15:56448125-56462293	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56433800-56464000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr15:56435400-56462400	Weak transcription	Fetal Thymus	thymus
3	chr15:56435400-56465200	Weak transcription	Thymus	Thymus
4	chr15:56442000-56462600	Weak transcription	HSMM	muscle
5	chr15:56442600-56470600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr15:56442800-56462600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr15:56443200-56462600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr15:56446600-56468400	Weak transcription	Fetal Lung	lung
9	chr15:56453000-56463200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr15:56453000-56479600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr15:56453200-56465000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr15:56453400-56463400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr15:56453600-56515000	Weak transcription	NHLF	lung
14	chr15:56453800-56463000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:56454000-56462800	Weak transcription	Brain Germinal Matrix	brain
16	chr15:56454000-56464600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr15:56454200-56465000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr15:56454400-56462600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:56454400-56462600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr15:56454400-56462600	Weak transcription	A549	lung
21	chr15:56454400-56463000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr15:56454400-56464200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr15:56454400-56465000	Weak transcription	Fetal Stomach	stomach
24	chr15:56454400-56465600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr15:56454400-56466400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr15:56454400-56467000	Weak transcription	Brain Angular Gyrus	brain
27	chr15:56454400-56467200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr15:56454400-56470000	Weak transcription	Colon Smooth Muscle	Colon
29	chr15:56454400-56470200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr15:56454400-56473400	Weak transcription	K562	blood
31	chr15:56454600-56463400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr15:56454600-56463400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr15:56454600-56465600	Weak transcription	Brain Substantia Nigra	brain
34	chr15:56454600-56484000	Weak transcription	Brain Anterior Caudate	brain
35	chr15:56454800-56465200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr15:56455400-56462400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr15:56456000-56463400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr15:56456200-56462800	Weak transcription	Liver	Liver
39	chr15:56456600-56464800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr15:56456600-56484800	Weak transcription	Aorta	Aorta
41	chr15:56456800-56463600	Weak transcription	Fetal Muscle Leg	muscle
42	chr15:56457200-56469000	Weak transcription	Hela-S3	cervix
43	chr15:56457400-56465000	Weak transcription	Fetal Intestine Small	intestine
44	chr15:56457400-56500400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:56457800-56462600	Weak transcription	Fetal Intestine Large	intestine
46	chr15:56457800-56463000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:56457800-56471600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr15:56458000-56470200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr15:56458000-56474000	Weak transcription	Pancreas	Pancrea
50	chr15:56458200-56465800	Weak transcription	Lung	lung

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