Variant report

Variant	rs10476543
Chromosome Location	chr5:94992220-94992221
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:94989629-94992234	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:94977116..95012475-chr5:95055682..95079552,215	K562	blood:
2	chr5:94980512..95018354-chr5:95057997..95080764,228	K562	blood:
3	chr5:94984626..94986883-chr5:94989979..94992621,3	MCF-7	breast:
4	chr5:94991181..94993222-chr5:95051401..95054011,2	K562	blood:

Variant related genes	Relation type
RFESD	TF binding region
ENSG00000164292	Chromatin interaction
ENSG00000250240	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10041927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10050746	1.00[AFR][1000 genomes]
rs10051654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10052288	1.00[AFR][1000 genomes]
rs10071673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10076138	1.00[AMR][1000 genomes]
rs10077822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17085065	1.00[AMR][1000 genomes]
rs17085067	1.00[AMR][1000 genomes]
rs17085087	1.00[AMR][1000 genomes]
rs17085092	1.00[AMR][1000 genomes]
rs17085131	1.00[AMR][1000 genomes]
rs17085133	1.00[AMR][1000 genomes]
rs17085143	1.00[AMR][1000 genomes]
rs28469700	1.00[AMR][1000 genomes]
rs28927968	1.00[AMR][1000 genomes]
rs28927970	1.00[AMR][1000 genomes]
rs29000874	1.00[AMR][1000 genomes]
rs29000875	1.00[AMR][1000 genomes]
rs56727798	1.00[AMR][1000 genomes]
rs57696954	1.00[AMR][1000 genomes]
rs58023885	1.00[AMR][1000 genomes]
rs889223	1.00[AMR][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	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94983200-95005000	Weak transcription	Left Ventricle	heart
2	chr5:94983400-95005000	Weak transcription	Placenta	Placenta
3	chr5:94983600-94999800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr5:94983600-95000000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:94983600-95000000	Weak transcription	Brain Hippocampus Middle	brain
6	chr5:94983600-95000200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr5:94983600-95005000	Weak transcription	Adipose Nuclei	Adipose
8	chr5:94983800-94999800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:94983800-94999800	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:94983800-95000000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr5:94983800-95004800	Weak transcription	Psoas Muscle	Psoas
12	chr5:94984200-94999800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:94984200-94999800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr5:94984200-95007800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr5:94984600-94992600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr5:94984600-94999800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr5:94988600-94993600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:94989000-94993200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr5:94989000-95004800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:94989200-94999800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:94989400-94995800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr5:94990400-95000200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:94991200-94996200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr5:94991200-94996200	Strong transcription	K562	blood
25	chr5:94991600-94993200	Weak transcription	Primary B cells from cord blood	blood
26	chr5:94991600-95002400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:94991600-95005600	Weak transcription	Fetal Lung	lung
28	chr5:94991800-94999800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr5:94992000-94993600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr5:94992000-94994400	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr5:94992000-94995600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:94992000-95004600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:94992200-94992600	Weak transcription	Fetal Thymus	thymus
34	chr5:94992200-94999800	Weak transcription	Primary T cells from cord blood	blood

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