Variant report

Variant	rs7328090
Chromosome Location	chr13:52587806-52587807
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:52584551..52590049-chr13:52591418..52597330,6	K562	blood:
2	chr13:52585087..52587899-chr13:52598320..52601537,3	MCF-7	breast:
3	chr13:52584543..52591722-chr13:52593134..52598355,11	K562	blood:
4	chr13:52158220..52159886-chr13:52585603..52588411,2	K562	blood:

Variant related genes	Relation type
ENSG00000253710	Chromatin interaction
ENSG00000253797	Chromatin interaction
ENSG00000139668	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2094354	0.95[EUR][1000 genomes]
rs2147362	0.82[EUR][1000 genomes]
rs9316568	0.96[EUR][1000 genomes]
rs9526816	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1044310	chr13:52321564-52643924	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1050117	chr13:52325116-52643924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv900082	chr13:52555288-52709938	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52584800-52588000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr13:52584800-52588000	Active TSS	K562	blood
3	chr13:52585600-52588000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr13:52585600-52588000	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr13:52585600-52588200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:52586000-52588000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:52586200-52588000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr13:52586800-52588000	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr13:52586800-52590600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr13:52587000-52588000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr13:52587000-52588000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr13:52587000-52590600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:52587000-52590600	Weak transcription	Pancreas	Pancrea
14	chr13:52587000-52590600	Weak transcription	Spleen	Spleen
15	chr13:52587000-52590800	Weak transcription	Gastric	stomach
16	chr13:52587000-52593800	Weak transcription	Left Ventricle	heart
17	chr13:52587000-52593800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr13:52587000-52594800	Weak transcription	Lung	lung
19	chr13:52587000-52598200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:52587000-52598800	Weak transcription	Small Intestine	intestine
21	chr13:52587000-52600000	Weak transcription	Esophagus	oesophagus
22	chr13:52587200-52588000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr13:52587200-52588000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr13:52587200-52588000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr13:52587200-52588000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr13:52587200-52588200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr13:52587200-52588200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr13:52587200-52588400	Flanking Active TSS	Dnd41	blood
29	chr13:52587200-52590600	Weak transcription	Aorta	Aorta
30	chr13:52587200-52594600	Weak transcription	Colonic Mucosa	Colon
31	chr13:52587200-52600000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr13:52587400-52588000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr13:52587400-52588000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr13:52587400-52588000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr13:52587400-52588000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr13:52587400-52588000	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr13:52587400-52588000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr13:52587400-52588000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr13:52587400-52588000	Enhancers	Rectal Smooth Muscle	rectum
40	chr13:52587400-52588000	Enhancers	HSMM	muscle
41	chr13:52587400-52588000	Flanking Active TSS	NHEK	skin
42	chr13:52587400-52588200	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr13:52587400-52588200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr13:52587400-52588200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr13:52587400-52588200	Enhancers	Brain Anterior Caudate	brain
46	chr13:52587400-52588200	Enhancers	Brain Cingulate Gyrus	brain
47	chr13:52587400-52589400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr13:52587400-52589800	Weak transcription	Placenta	Placenta
49	chr13:52587400-52589800	Weak transcription	Fetal Thymus	thymus
50	chr13:52587400-52589800	Weak transcription	Thymus	Thymus

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