Variant report

Variant	rs375458
Chromosome Location	chr5:70853256-70853257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:70751568..70754307-chr5:70852249..70853965,2	K562	blood:

Extended variants
information (count: 139 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs11740849	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11742923	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12109984	0.80[EUR][1000 genomes]
rs12514575	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12658383	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13153636	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13165848	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13168805	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13175174	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13185319	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1559260	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs156753	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs156754	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs156755	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs157045	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs157046	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs166757	0.81[AMR][1000 genomes]
rs1693895	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1698063	0.81[AMR][1000 genomes]
rs172148	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17334377	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs175872	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs182190	0.83[AMR][1000 genomes]
rs1833856	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs185733	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs188059	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1961760	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2059192	0.80[EUR][1000 genomes]
rs2059194	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2059195	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2315534	0.81[EUR][1000 genomes]
rs2432059	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2432060	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2454086	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2652615	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs276590	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs276591	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs276593	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs276594	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs276595	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs276597	0.84[AMR][1000 genomes]
rs276599	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs276600	0.83[AMR][1000 genomes]
rs277939	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs277942	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs277944	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs277945	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs277948	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs277957	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs277958	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs277960	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs277961	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs277962	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs277963	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs277964	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs277965	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs277966	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs277967	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs277969	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs279290	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs279291	0.83[AMR][1000 genomes]
rs279337	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35327154	0.80[AMR][1000 genomes]
rs35420270	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35696325	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs36036841	0.81[AMR][1000 genomes]
rs3761965	0.81[AMR][1000 genomes]
rs3761967	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs378585	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3890749	0.81[AMR][1000 genomes]
rs404692	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs410776	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs418738	0.81[AMR][1000 genomes]
rs4337836	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs439698	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs441691	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs445771	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs457908	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs458009	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs458370	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs458534	0.82[ASN][1000 genomes]
rs459298	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs459787	0.86[AMR][1000 genomes]
rs461215	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs462282	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs463871	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs464155	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs464182	0.80[AMR][1000 genomes]
rs464594	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs464962	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs465073	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs466930	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs467381	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs467413	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs467563	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs467620	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs467851	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs468028	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs468033	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs468128	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs468158	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs468446	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs468467	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs468564	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs468633	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs468658	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs468776	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs468832	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs469039	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs469142	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs469369	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs469379	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs469548	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs469617	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4703986	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4704049	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4704096	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs541035	0.86[AMR][1000 genomes]
rs560394	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62361813	0.81[AMR][1000 genomes]
rs62374360	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6871754	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6885523	0.80[AMR][1000 genomes]
rs715748	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7442961	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7444320	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7447146	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7448990	0.80[EUR][1000 genomes]
rs7702940	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7726336	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7737101	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9791120	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv882176	chr5:70738250-70860665	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2754424	chr5:70749744-70885544	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv830340	chr5:70797113-70967110	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv882177	chr5:70800538-70856378	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv882178	chr5:70806958-70856378	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv882179	chr5:70807073-70856378	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 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	chr5:70778400-70869600	Weak transcription	Stomach Mucosa	stomach
2	chr5:70820200-70857400	Weak transcription	Small Intestine	intestine
3	chr5:70825200-70859600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:70825800-70869200	Weak transcription	Fetal Heart	heart
5	chr5:70827600-70864400	Strong transcription	Liver	Liver
6	chr5:70831400-70864600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr5:70834000-70871800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:70834200-70862800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:70837800-70861800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:70838000-70859400	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr5:70839400-70870000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:70841400-70860800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:70846000-70853600	Weak transcription	Fetal Brain Male	brain
14	chr5:70846000-70863800	Weak transcription	Esophagus	oesophagus
15	chr5:70846000-70872800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr5:70846200-70853600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:70846200-70856600	Weak transcription	Aorta	Aorta
18	chr5:70846200-70866200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:70846200-70867600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:70846800-70853800	Weak transcription	Brain Anterior Caudate	brain
21	chr5:70846800-70855800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr5:70846800-70857200	Weak transcription	Spleen	Spleen
23	chr5:70846800-70858200	Weak transcription	Right Ventricle	heart
24	chr5:70847200-70864200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr5:70847400-70864600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:70847600-70854200	Weak transcription	Ovary	ovary
27	chr5:70847600-70854600	Weak transcription	Pancreas	Pancrea
28	chr5:70847600-70869800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr5:70848000-70859800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr5:70848200-70862400	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr5:70848400-70859200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:70848400-70859600	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr5:70848400-70861600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:70848400-70864800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:70848600-70859200	Strong transcription	Primary B cells from peripheral blood	blood
36	chr5:70848600-70859200	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr5:70848600-70859400	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr5:70848600-70859600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr5:70848600-70861600	Strong transcription	Adipose Nuclei	Adipose
40	chr5:70848600-70861800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:70848600-70865000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr5:70848600-70865000	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr5:70848800-70854000	Strong transcription	Osteobl	bone
44	chr5:70848800-70854200	Strong transcription	NHDF-Ad	bronchial
45	chr5:70848800-70858800	Strong transcription	NH-A	brain
46	chr5:70848800-70859200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:70848800-70859200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr5:70848800-70859400	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr5:70848800-70859400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:70848800-70859600	Strong transcription	Primary T helper cells fromperipheralblood	blood

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