Variant report

Variant	rs6532753
Chromosome Location	chr4:99540363-99540364
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99540036..99541915-chr4:99662055..99663703,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11097625	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11097626	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11937119	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11941870	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11941880	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11946198	0.81[EUR][1000 genomes]
rs12507537	0.82[EUR][1000 genomes]
rs12512885	0.80[EUR][1000 genomes]
rs13435520	0.80[ASN][1000 genomes]
rs28412266	0.92[ASN][1000 genomes]
rs28604404	0.92[ASN][1000 genomes]
rs2866015	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4699356	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6532752	0.81[EUR][1000 genomes]
rs6532754	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs883131	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs915879	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6532753	RP11-1299A16.3	cis	Muscle Skeletal	GTEx
rs6532753	TSPAN5	cis	Muscle Skeletal	GTEx

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99523000-99545000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:99527200-99541000	Weak transcription	NHLF	lung
3	chr4:99529600-99542400	Enhancers	Brain Cingulate Gyrus	brain
4	chr4:99529600-99543200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr4:99530000-99540600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:99531000-99544200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:99531200-99541400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr4:99532600-99545400	Weak transcription	HMEC	breast
9	chr4:99534000-99541400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:99534200-99541400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:99534400-99541200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:99534400-99543200	Weak transcription	Thymus	Thymus
13	chr4:99534600-99541000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr4:99535000-99541400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr4:99535000-99541600	Enhancers	Ovary	ovary
16	chr4:99535200-99541200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:99535400-99541000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr4:99535400-99544200	Weak transcription	NHEK	skin
19	chr4:99535600-99541200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:99535600-99554200	Enhancers	Brain Substantia Nigra	brain
21	chr4:99536200-99545800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:99536400-99541000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:99536800-99541800	Enhancers	Fetal Brain Female	brain
24	chr4:99536800-99542400	Enhancers	Brain Angular Gyrus	brain
25	chr4:99537600-99544800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:99538000-99542200	Enhancers	Fetal Brain Male	brain
27	chr4:99538200-99541200	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr4:99538200-99542600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:99538400-99541000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:99538400-99542000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:99538400-99542200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:99538400-99543800	Enhancers	Brain Anterior Caudate	brain
33	chr4:99539000-99541200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:99539000-99541200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr4:99539000-99541400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr4:99539000-99541400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:99539000-99541400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:99539000-99546400	Weak transcription	Fetal Thymus	thymus
39	chr4:99539000-99547200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:99539200-99540400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:99539200-99540400	Weak transcription	Colon Smooth Muscle	Colon
42	chr4:99539200-99540400	Weak transcription	Fetal Muscle Leg	muscle
43	chr4:99539200-99541000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr4:99539200-99541000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:99539200-99541200	Weak transcription	NH-A	brain
46	chr4:99539200-99541600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr4:99539200-99543400	Weak transcription	NHDF-Ad	bronchial
48	chr4:99539200-99544200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:99539200-99544200	Weak transcription	Osteobl	bone
50	chr4:99539200-99545400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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