Variant report

Variant	rs13190232
Chromosome Location	chr5:52864802-52864803
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52858854..52861653-chr5:52864359..52868454,4	MCF-7	breast:
2	chr5:52855191..52856804-chr5:52862237..52864933,2	K562	blood:

Variant related genes	Relation type
ENSG00000164258	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11743522	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189493	0.83[EUR][1000 genomes]
rs13156337	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13161192	1.00[ASN][1000 genomes]
rs13167989	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171487	1.00[ASN][1000 genomes]
rs13174659	0.82[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:66 , 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	chr5:52858000-52865000	Weak transcription	HMEC	breast
9	chr5:52858000-52865800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:52858000-52868800	Weak transcription	Psoas Muscle	Psoas
11	chr5:52858000-52870800	Weak transcription	Primary T cells from cord blood	blood
12	chr5:52858000-52870800	Weak transcription	Ovary	ovary
13	chr5:52858000-52870800	Weak transcription	Right Ventricle	heart
14	chr5:52858000-52899800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:52858000-52900400	Weak transcription	Fetal Kidney	kidney
16	chr5:52858200-52867400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:52858200-52867600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr5:52858200-52880400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:52858200-52885000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr5:52858200-52897200	Weak transcription	NHEK	skin
21	chr5:52858400-52870800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:52858400-52895000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:52858400-52899800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr5:52858600-52865200	Weak transcription	GM12878-XiMat	blood
25	chr5:52858600-52867000	Weak transcription	Brain Angular Gyrus	brain
26	chr5:52859600-52867600	Weak transcription	Brain Hippocampus Middle	brain
27	chr5:52860000-52870600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr5:52860000-52909000	Weak transcription	Small Intestine	intestine
29	chr5:52860200-52865200	Weak transcription	Stomach Mucosa	stomach
30	chr5:52860200-52867200	Weak transcription	Colon Smooth Muscle	Colon
31	chr5:52860200-52867400	Weak transcription	Brain Anterior Caudate	brain
32	chr5:52860200-52867600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr5:52860200-52885600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:52860600-52868800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr5:52860600-52884800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:52861400-52867200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr5:52861600-52873000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:52861600-52894600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:52862600-52865200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:52862800-52867400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:52863000-52870600	Weak transcription	Left Ventricle	heart
42	chr5:52863400-52865600	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr5:52863600-52865200	Weak transcription	Fetal Heart	heart
44	chr5:52863800-52865600	Enhancers	Liver	Liver
45	chr5:52864000-52865000	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr5:52864000-52865800	Enhancers	NHDF-Ad	bronchial
47	chr5:52864200-52865000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr5:52864200-52865200	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr5:52864200-52865200	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr5:52864200-52865200	Enhancers	Adipose Nuclei	Adipose

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