Variant report

Variant	rs525910
Chromosome Location	chr15:40231500-40231501
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40229592..40232306-chr15:40232969..40235787,3	K562	blood:
2	chr15:40225691..40227971-chr15:40229270..40234553,6	MCF-7	breast:
3	chr15:40213996..40216458-chr15:40228860..40231752,2	K562	blood:
4	chr15:40229592..40232306-chr15:40232969..40236218,4	K562	blood:

Variant related genes	Relation type
ENSG00000200305	Chromatin interaction
ENSG00000128829	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1656895	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1656896	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2247984	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2412451	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2917497	0.89[EUR][1000 genomes]
rs480095	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs486816	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs489424	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs494614	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs494690	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs500200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs508281	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs518770	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs524240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs527610	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs534757	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs535407	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs562159	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs577289	0.88[EUR][1000 genomes]
rs581233	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv832983	chr15:40098766-40248839	Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr15:40227200-40232000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr15:40227200-40232200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr15:40227200-40232200	Weak transcription	Colonic Mucosa	Colon
4	chr15:40227200-40232200	Weak transcription	Placenta	Placenta
5	chr15:40227200-40232200	Weak transcription	Left Ventricle	heart
6	chr15:40227200-40235800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr15:40227200-40236000	Weak transcription	Brain Angular Gyrus	brain
8	chr15:40227200-40247800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:40227200-40248200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr15:40227200-40268400	Weak transcription	Esophagus	oesophagus
11	chr15:40227400-40231800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr15:40227400-40232000	Weak transcription	Brain Substantia Nigra	brain
13	chr15:40227400-40232000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr15:40227400-40232200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:40227400-40232200	Weak transcription	Brain Hippocampus Middle	brain
16	chr15:40227400-40232200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr15:40227400-40233000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr15:40227400-40234000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr15:40227400-40235000	Weak transcription	Fetal Brain Female	brain
20	chr15:40227400-40236000	Weak transcription	Brain Germinal Matrix	brain
21	chr15:40227400-40236800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr15:40227400-40237600	Weak transcription	Fetal Brain Male	brain
23	chr15:40227400-40283400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr15:40227600-40231800	Weak transcription	Fetal Kidney	kidney
25	chr15:40227600-40235800	Weak transcription	Small Intestine	intestine
26	chr15:40227800-40232000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:40227800-40232200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr15:40227800-40232200	Weak transcription	Fetal Lung	lung
29	chr15:40227800-40232200	Weak transcription	Lung	lung
30	chr15:40227800-40233200	Weak transcription	K562	blood
31	chr15:40227800-40235000	Weak transcription	Right Ventricle	heart
32	chr15:40227800-40237600	Weak transcription	Gastric	stomach
33	chr15:40227800-40247000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr15:40227800-40268400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr15:40228000-40231800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr15:40228000-40232200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr15:40228000-40233000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr15:40228000-40233400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr15:40228000-40235000	Weak transcription	Fetal Intestine Small	intestine
40	chr15:40228000-40238400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr15:40228200-40232200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr15:40228200-40232200	Weak transcription	Fetal Intestine Large	intestine
43	chr15:40228200-40232200	Weak transcription	Thymus	Thymus
44	chr15:40228200-40235000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr15:40228200-40323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr15:40228400-40232000	Genic enhancers	HUES64 Cell Line	embryonic stem cell
47	chr15:40228400-40232000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr15:40228400-40232200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr15:40228600-40232200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr15:40228600-40239800	Weak transcription	Stomach Mucosa	stomach

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