Variant report

Variant	rs500200
Chromosome Location	chr15:40232001-40232002
allele	A/C
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	chr15:40229592..40232306-chr15:40232969..40236218,4	K562	blood:

Variant related genes	Relation type
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]
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]
rs525910	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40227200-40232200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr15:40227200-40232200	Weak transcription	Colonic Mucosa	Colon
3	chr15:40227200-40232200	Weak transcription	Placenta	Placenta
4	chr15:40227200-40232200	Weak transcription	Left Ventricle	heart
5	chr15:40227200-40235800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr15:40227200-40236000	Weak transcription	Brain Angular Gyrus	brain
7	chr15:40227200-40247800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:40227200-40248200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr15:40227200-40268400	Weak transcription	Esophagus	oesophagus
10	chr15:40227400-40232200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:40227400-40232200	Weak transcription	Brain Hippocampus Middle	brain
12	chr15:40227400-40232200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr15:40227400-40233000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr15:40227400-40234000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr15:40227400-40235000	Weak transcription	Fetal Brain Female	brain
16	chr15:40227400-40236000	Weak transcription	Brain Germinal Matrix	brain
17	chr15:40227400-40236800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr15:40227400-40237600	Weak transcription	Fetal Brain Male	brain
19	chr15:40227400-40283400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr15:40227600-40235800	Weak transcription	Small Intestine	intestine
21	chr15:40227800-40232200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr15:40227800-40232200	Weak transcription	Fetal Lung	lung
23	chr15:40227800-40232200	Weak transcription	Lung	lung
24	chr15:40227800-40233200	Weak transcription	K562	blood
25	chr15:40227800-40235000	Weak transcription	Right Ventricle	heart
26	chr15:40227800-40237600	Weak transcription	Gastric	stomach
27	chr15:40227800-40247000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr15:40227800-40268400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr15:40228000-40232200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr15:40228000-40233000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr15:40228000-40233400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr15:40228000-40235000	Weak transcription	Fetal Intestine Small	intestine
33	chr15:40228000-40238400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr15:40228200-40232200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr15:40228200-40232200	Weak transcription	Fetal Intestine Large	intestine
36	chr15:40228200-40232200	Weak transcription	Thymus	Thymus
37	chr15:40228200-40235000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr15:40228200-40323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr15:40228400-40232200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr15:40228600-40232200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr15:40228600-40239800	Weak transcription	Stomach Mucosa	stomach
42	chr15:40228600-40246000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr15:40229000-40232200	Weak transcription	Pancreas	Pancrea
44	chr15:40229000-40232600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr15:40229200-40232200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr15:40229200-40232200	Weak transcription	HepG2	liver
47	chr15:40229400-40232200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr15:40229400-40235400	Genic enhancers	Muscle Satellite Cultured Cells	--
49	chr15:40230000-40234400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr15:40230000-40235200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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