Variant report

Variant	rs7164375
Chromosome Location	chr15:50595810-50595811
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs11070766	0.83[ASN][1000 genomes]
rs11070768	0.83[ASN][1000 genomes]
rs11629603	0.86[ASN][1000 genomes]
rs11630063	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11631197	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11631985	0.86[ASN][1000 genomes]
rs11632019	0.83[ASN][1000 genomes]
rs11632703	0.83[ASN][1000 genomes]
rs11636564	0.83[ASN][1000 genomes]
rs11636908	0.86[ASN][1000 genomes]
rs11637901	0.86[ASN][1000 genomes]
rs11637975	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11638432	0.83[ASN][1000 genomes]
rs11638564	0.86[ASN][1000 genomes]
rs11639406	0.86[ASN][1000 genomes]
rs11852487	0.83[ASN][1000 genomes]
rs11853236	0.83[ASN][1000 genomes]
rs11855823	0.83[ASN][1000 genomes]
rs12902318	0.86[ASN][1000 genomes]
rs12904469	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12904711	0.87[EUR][1000 genomes]
rs12906304	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12908591	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12909337	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12910368	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12910586	0.83[ASN][1000 genomes]
rs12912679	0.91[ASN][1000 genomes]
rs12912969	0.86[ASN][1000 genomes]
rs12923	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1645	0.86[ASN][1000 genomes]
rs16963604	0.83[ASN][1000 genomes]
rs16963612	0.83[ASN][1000 genomes]
rs2033115	0.86[ASN][1000 genomes]
rs2081628	0.86[ASN][1000 genomes]
rs28372114	0.83[ASN][1000 genomes]
rs28408662	0.86[ASN][1000 genomes]
rs28451583	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28453939	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28531946	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28534445	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28609286	0.83[ASN][1000 genomes]
rs28688566	0.86[ASN][1000 genomes]
rs28690939	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28715646	0.86[ASN][1000 genomes]
rs28716586	0.86[ASN][1000 genomes]
rs28719982	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34143694	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34197276	0.83[ASN][1000 genomes]
rs34312018	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34405772	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34590486	0.86[ASN][1000 genomes]
rs35000991	0.86[ASN][1000 genomes]
rs35013067	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35024305	0.83[ASN][1000 genomes]
rs35033384	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35168369	0.86[ASN][1000 genomes]
rs35354250	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35446819	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35453213	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4774559	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4775872	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4775873	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4775874	0.83[ASN][1000 genomes]
rs4775875	0.83[ASN][1000 genomes]
rs4775876	0.83[ASN][1000 genomes]
rs4775877	0.86[ASN][1000 genomes]
rs526045	0.86[ASN][1000 genomes]
rs526952	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59514998	0.82[AMR][1000 genomes]
rs7163457	0.86[ASN][1000 genomes]
rs7164377	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7164798	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7175150	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7176792	0.83[ASN][1000 genomes]
rs7183422	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73399285	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8024514	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8025367	0.86[ASN][1000 genomes]
rs8026571	0.86[ASN][1000 genomes]
rs8027367	0.86[ASN][1000 genomes]
rs8030952	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8034597	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8034615	0.86[ASN][1000 genomes]
rs8042053	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8043475	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][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	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1045456	chr15:50592472-51019873	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50568800-50599200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr15:50570400-50606600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr15:50570800-50600600	Weak transcription	Spleen	Spleen
4	chr15:50574400-50602000	Weak transcription	Small Intestine	intestine
5	chr15:50575200-50601000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:50576600-50599000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr15:50578200-50600400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:50578400-50597800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:50580400-50599200	Weak transcription	Fetal Brain Male	brain
10	chr15:50580400-50605000	Weak transcription	Fetal Heart	heart
11	chr15:50580600-50596000	Weak transcription	Fetal Brain Female	brain
12	chr15:50580800-50600600	Weak transcription	Pancreas	Pancrea
13	chr15:50580800-50638400	Weak transcription	NHEK	skin
14	chr15:50581000-50600600	Weak transcription	Colonic Mucosa	Colon
15	chr15:50582200-50597800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr15:50585600-50599200	Weak transcription	K562	blood
17	chr15:50586600-50599000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:50586800-50596400	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr15:50586800-50598600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:50586800-50598800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr15:50586800-50598800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr15:50587000-50596600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr15:50587000-50596600	Strong transcription	Fetal Thymus	thymus
24	chr15:50587000-50599400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:50587200-50597800	Strong transcription	Primary hematopoietic stem cells	blood
26	chr15:50587200-50598400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr15:50587200-50600400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr15:50588000-50596400	Strong transcription	Dnd41	blood
29	chr15:50588200-50596400	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr15:50588200-50596400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr15:50588200-50596800	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr15:50588200-50599200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr15:50589200-50597000	Strong transcription	Fetal Stomach	stomach
34	chr15:50589400-50596400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr15:50589400-50598800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr15:50589600-50596400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:50589600-50596400	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr15:50589600-50596400	Strong transcription	Fetal Intestine Large	intestine
39	chr15:50589600-50596400	Strong transcription	Fetal Intestine Small	intestine
40	chr15:50589600-50596600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:50589800-50596400	Strong transcription	Adipose Nuclei	Adipose
42	chr15:50589800-50602600	Weak transcription	Gastric	stomach
43	chr15:50590000-50596000	Strong transcription	Placenta	Placenta
44	chr15:50590000-50596400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr15:50590000-50596400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr15:50590000-50596400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr15:50590000-50596400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr15:50591200-50596400	Strong transcription	Hela-S3	cervix
49	chr15:50591400-50596400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr15:50591800-50596400	Strong transcription	Fetal Muscle Leg	muscle

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