Variant report

Variant	rs73389531
Chromosome Location	chr15:40471887-40471888
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11070254	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070255	1.00[EUR][1000 genomes]
rs12102172	1.00[EUR][1000 genomes]
rs12385956	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13380113	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13380241	1.00[EUR][1000 genomes]
rs1494534	1.00[EUR][1000 genomes]
rs1801528	1.00[EUR][1000 genomes]
rs1869906	1.00[EUR][1000 genomes]
rs28390245	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28417868	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28418337	1.00[AMR][1000 genomes]
rs28485685	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28501335	1.00[EUR][1000 genomes]
rs28526743	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28561898	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28565228	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28606396	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28637656	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28637697	1.00[EUR][1000 genomes]
rs28657938	1.00[EUR][1000 genomes]
rs28668026	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28673302	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28744626	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28750294	1.00[EUR][1000 genomes]
rs28792493	1.00[EUR][1000 genomes]
rs28844897	1.00[EUR][1000 genomes]
rs28869227	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35611758	1.00[EUR][1000 genomes]
rs56888636	1.00[EUR][1000 genomes]
rs57029027	1.00[EUR][1000 genomes]
rs58216655	1.00[EUR][1000 genomes]
rs58355728	1.00[AMR][1000 genomes]
rs58584688	1.00[EUR][1000 genomes]
rs60743501	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60889301	1.00[EUR][1000 genomes]
rs6492943	1.00[EUR][1000 genomes]
rs7164281	1.00[EUR][1000 genomes]
rs7168394	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7168416	1.00[EUR][1000 genomes]
rs7173239	1.00[EUR][1000 genomes]
rs7178873	1.00[EUR][1000 genomes]
rs73377835	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389487	1.00[EUR][1000 genomes]
rs73389489	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389492	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389507	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389520	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389536	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73389540	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73390146	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73390155	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73390162	1.00[EUR][1000 genomes]
rs73390167	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73390168	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73390187	1.00[EUR][1000 genomes]
rs73391309	1.00[AMR][1000 genomes]
rs73391316	1.00[AMR][1000 genomes]
rs73392641	1.00[EUR][1000 genomes]
rs8023956	1.00[EUR][1000 genomes]
rs8026988	1.00[EUR][1000 genomes]
rs8364	1.00[EUR][1000 genomes]
rs9672591	1.00[EUR][1000 genomes]
rs967945	1.00[AMR][1000 genomes]
rs9806126	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9806144	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40453800-40474600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr15:40453800-40525000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr15:40454000-40474600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr15:40454000-40515200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr15:40454600-40502400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr15:40454800-40474400	Weak transcription	Primary B cells from cord blood	blood
7	chr15:40454800-40524200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr15:40455000-40474600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr15:40455000-40474600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr15:40455400-40530400	Weak transcription	Fetal Brain Female	brain
11	chr15:40455600-40477600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr15:40455600-40518200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr15:40455600-40522200	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr15:40455600-40530400	Weak transcription	Brain Germinal Matrix	brain
15	chr15:40456200-40524000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr15:40456200-40524000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr15:40457400-40473200	Strong transcription	Dnd41	blood
18	chr15:40457400-40476000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr15:40461600-40486800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:40462200-40474200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr15:40462800-40482200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr15:40463800-40474200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr15:40463800-40475800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr15:40463800-40477200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr15:40463800-40478800	Weak transcription	Fetal Intestine Small	intestine
26	chr15:40463800-40481400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr15:40463800-40482000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr15:40463800-40482600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:40464000-40474600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr15:40464000-40475800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr15:40464000-40477200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr15:40464000-40485000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:40464000-40490200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr15:40465000-40489600	Weak transcription	Fetal Intestine Large	intestine
35	chr15:40465200-40474400	Weak transcription	Fetal Muscle Leg	muscle
36	chr15:40465200-40474600	Weak transcription	NHEK	skin
37	chr15:40465200-40474600	Weak transcription	Osteobl	bone
38	chr15:40465200-40475400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr15:40465200-40477400	Weak transcription	NHLF	lung
40	chr15:40465400-40474000	Weak transcription	Fetal Stomach	stomach
41	chr15:40465400-40474400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr15:40466000-40477400	Weak transcription	Fetal Lung	lung
43	chr15:40466200-40474400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr15:40466600-40474600	Weak transcription	NH-A	brain
45	chr15:40466600-40475800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr15:40466800-40476000	Weak transcription	HMEC	breast
47	chr15:40467400-40475400	Weak transcription	HSMM	muscle
48	chr15:40468400-40485800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr15:40468800-40473600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr15:40468800-40473600	Weak transcription	K562	blood

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