Variant report

Variant	rs56291043
Chromosome Location	chr5:52861800-52861801
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	chr5:52861548..52863990-chr5:52926971..52929955,2	MCF-7	breast:
2	chr5:52851780..52858194-chr5:52858438..52864794,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164258	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13190354	0.81[ASN][1000 genomes]
rs2087619	0.83[ASN][1000 genomes]
rs2124949	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4147737	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4147738	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4147743	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs501403	0.83[ASN][1000 genomes]
rs56099109	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62370520	0.86[AFR][1000 genomes]
rs62370546	0.86[AFR][1000 genomes]
rs72750150	0.87[ASN][1000 genomes]
rs72751831	0.87[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:71 , 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	chr5:52857600-52864800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:52857600-52875000	Weak transcription	Thymus	Thymus
5	chr5:52857800-52863000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:52857800-52864400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:52857800-52864400	Weak transcription	Fetal Intestine Small	intestine
8	chr5:52857800-52883000	Weak transcription	Hela-S3	cervix
9	chr5:52857800-52884000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:52857800-52892800	Weak transcription	Primary B cells from cord blood	blood
11	chr5:52857800-52898800	Weak transcription	HSMM	muscle
12	chr5:52858000-52862200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:52858000-52862600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:52858000-52864600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr5:52858000-52864600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr5:52858000-52864800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr5:52858000-52865000	Weak transcription	HMEC	breast
18	chr5:52858000-52865800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:52858000-52868800	Weak transcription	Psoas Muscle	Psoas
20	chr5:52858000-52870800	Weak transcription	Primary T cells from cord blood	blood
21	chr5:52858000-52870800	Weak transcription	Ovary	ovary
22	chr5:52858000-52870800	Weak transcription	Right Ventricle	heart
23	chr5:52858000-52899800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:52858000-52900400	Weak transcription	Fetal Kidney	kidney
25	chr5:52858200-52862800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:52858200-52863200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr5:52858200-52864000	Weak transcription	NHDF-Ad	bronchial
28	chr5:52858200-52864200	Weak transcription	Adipose Nuclei	Adipose
29	chr5:52858200-52864800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr5:52858200-52867400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:52858200-52867600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr5:52858200-52880400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:52858200-52885000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr5:52858200-52897200	Weak transcription	NHEK	skin
35	chr5:52858400-52864200	Weak transcription	Fetal Stomach	stomach
36	chr5:52858400-52864400	Weak transcription	A549	lung
37	chr5:52858400-52864600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:52858400-52870800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr5:52858400-52895000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:52858400-52899800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr5:52858600-52862200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:52858600-52864000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr5:52858600-52865200	Weak transcription	GM12878-XiMat	blood
44	chr5:52858600-52867000	Weak transcription	Brain Angular Gyrus	brain
45	chr5:52859400-52864800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:52859600-52867600	Weak transcription	Brain Hippocampus Middle	brain
47	chr5:52859800-52864600	Weak transcription	Brain Germinal Matrix	brain
48	chr5:52860000-52863400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr5:52860000-52870600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr5:52860000-52909000	Weak transcription	Small Intestine	intestine

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