Variant report

Variant	rs7991146
Chromosome Location	chr13:52594741-52594742
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:52592255..52594860-chr13:52597501..52600884,3	K562	blood:
2	chr13:52584551..52590049-chr13:52591418..52597330,6	K562	blood:
3	chr13:52584543..52591722-chr13:52593134..52598355,11	K562	blood:

Variant related genes	Relation type
ENSG00000253710	Chromatin interaction
ENSG00000123191	Chromatin interaction
ENSG00000253797	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11839458	0.83[EUR][1000 genomes]
rs12870757	0.89[AMR][1000 genomes]
rs17402262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17480245	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17480469	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17480693	0.96[AMR][1000 genomes]
rs34288155	0.81[AMR][1000 genomes]
rs35302368	0.89[AMR][1000 genomes]
rs35370885	0.81[AMR][1000 genomes]
rs35703449	0.89[AMR][1000 genomes]
rs4438196	0.89[AMR][1000 genomes]
rs4941717	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4941721	0.86[EUR][1000 genomes]
rs4941722	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4943047	0.85[AMR][1000 genomes]
rs4943052	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4943053	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4943055	1.00[AMR][1000 genomes]
rs71437831	0.89[AMR][1000 genomes]
rs7320155	0.81[AMR][1000 genomes]
rs7338832	0.92[AMR][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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52587000-52594800	Weak transcription	Lung	lung
2	chr13:52587000-52598200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:52587000-52598800	Weak transcription	Small Intestine	intestine
4	chr13:52587000-52600000	Weak transcription	Esophagus	oesophagus
5	chr13:52587200-52600000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr13:52587400-52595600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr13:52587400-52598200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr13:52587400-52598200	Weak transcription	Right Ventricle	heart
9	chr13:52587400-52598400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr13:52587400-52598800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr13:52587400-52600000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr13:52587600-52598000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr13:52587600-52598000	Weak transcription	Fetal Kidney	kidney
14	chr13:52587600-52598400	Weak transcription	Brain Substantia Nigra	brain
15	chr13:52587600-52599400	Weak transcription	Stomach Mucosa	stomach
16	chr13:52587800-52598200	Weak transcription	Fetal Heart	heart
17	chr13:52588000-52595400	Weak transcription	HUVEC	blood vessel
18	chr13:52588000-52597000	Weak transcription	HSMMtube	muscle
19	chr13:52588000-52598000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr13:52588000-52609200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr13:52588000-52617400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr13:52588200-52594800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr13:52588200-52598000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr13:52588200-52598200	Weak transcription	NHDF-Ad	bronchial
25	chr13:52588200-52602200	Weak transcription	Hela-S3	cervix
26	chr13:52588400-52594800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr13:52589400-52605200	Strong transcription	Fetal Muscle Trunk	muscle
28	chr13:52589800-52603400	Strong transcription	Placenta	Placenta
29	chr13:52589800-52605400	Strong transcription	Fetal Thymus	thymus
30	chr13:52590000-52604400	Strong transcription	Primary T cells from cord blood	blood
31	chr13:52590200-52600400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr13:52590200-52603400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr13:52590400-52596000	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr13:52590400-52598800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr13:52590400-52599200	Strong transcription	Fetal Muscle Leg	muscle
36	chr13:52590400-52602000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr13:52590600-52601400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr13:52590600-52604200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr13:52590800-52596200	Strong transcription	Stomach Smooth Muscle	stomach
40	chr13:52590800-52599000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr13:52591000-52599400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr13:52591000-52599400	Weak transcription	Pancreas	Pancrea
43	chr13:52591000-52599800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr13:52591000-52604600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr13:52591400-52598200	Weak transcription	Aorta	Aorta
46	chr13:52591600-52596800	Strong transcription	Duodenum Mucosa	Duodenum
47	chr13:52591600-52603400	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr13:52591600-52603400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr13:52591600-52604000	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr13:52591800-52595200	Strong transcription	HSMM	muscle

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