Variant report

Variant	rs72750150
Chromosome Location	chr5:52871864-52871865
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52870145..52872320-chr5:52872333..52875055,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13190354	0.81[ASN][1000 genomes]
rs1388111	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1994648	0.84[AFR][1000 genomes]
rs2087619	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2124949	0.94[ASN][1000 genomes]
rs4147737	0.82[ASN][1000 genomes]
rs4147738	0.82[ASN][1000 genomes]
rs4147743	0.82[ASN][1000 genomes]
rs501403	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56099109	0.82[ASN][1000 genomes]
rs56291043	0.87[ASN][1000 genomes]
rs72750157	0.84[AFR][1000 genomes]
rs72750158	0.84[AFR][1000 genomes]
rs72751823	0.84[AFR][1000 genomes]
rs72751826	0.84[AFR][1000 genomes]
rs72751831	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv880868	chr5:52799618-53002783	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv880689	chr5:52847995-53002783	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52857200-52872800	Weak transcription	Gastric	stomach
2	chr5:52857200-52872800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:52857600-52875000	Weak transcription	Thymus	Thymus
4	chr5:52857800-52883000	Weak transcription	Hela-S3	cervix
5	chr5:52857800-52884000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:52857800-52892800	Weak transcription	Primary B cells from cord blood	blood
7	chr5:52857800-52898800	Weak transcription	HSMM	muscle
8	chr5:52858000-52899800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:52858000-52900400	Weak transcription	Fetal Kidney	kidney
10	chr5:52858200-52880400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:52858200-52885000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:52858200-52897200	Weak transcription	NHEK	skin
13	chr5:52858400-52895000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:52858400-52899800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr5:52860000-52909000	Weak transcription	Small Intestine	intestine
16	chr5:52860200-52885600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:52860600-52884800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:52861600-52873000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:52861600-52894600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:52865000-52872800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr5:52865000-52900400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:52865200-52885200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr5:52865600-52872400	Weak transcription	Stomach Mucosa	stomach
24	chr5:52865600-52883400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:52865600-52898400	Weak transcription	Fetal Lung	lung
26	chr5:52865600-52899800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr5:52866200-52883400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:52866400-52884200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:52867600-52888400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr5:52867800-52872600	Weak transcription	Colon Smooth Muscle	Colon
31	chr5:52867800-52874200	Weak transcription	Brain Angular Gyrus	brain
32	chr5:52868200-52872200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr5:52868200-52873800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr5:52868200-52885200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:52868400-52882000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr5:52869600-52874200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:52869600-52896000	Weak transcription	Fetal Stomach	stomach
38	chr5:52870200-52892000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr5:52870600-52873000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr5:52870600-52875600	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr5:52870800-52873000	Enhancers	Brain Hippocampus Middle	brain
42	chr5:52870800-52874600	Enhancers	HepG2	liver
43	chr5:52870800-52876400	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr5:52871000-52875000	Weak transcription	Adipose Nuclei	Adipose
45	chr5:52871000-52881400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr5:52871200-52872200	Enhancers	NHDF-Ad	bronchial
47	chr5:52871200-52872400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr5:52871200-52872600	Weak transcription	Brain Substantia Nigra	brain
49	chr5:52871200-52872800	Weak transcription	Aorta	Aorta
50	chr5:52871200-52872800	Weak transcription	Ovary	ovary

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