Variant report

Variant	rs7993496
Chromosome Location	chr13:50486675-50486676
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1056543	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1326121	0.88[AFR][1000 genomes]
rs1853926	0.88[AFR][1000 genomes]
rs2066569	0.83[AFR][1000 genomes]
rs2066577	0.86[AFR][1000 genomes]
rs2066580	0.86[AFR][1000 genomes]
rs2066588	0.85[AFR][1000 genomes]
rs58535000	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58584173	0.88[AFR][1000 genomes]
rs59019111	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs59881118	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61558258	0.84[EUR][1000 genomes]
rs61623782	0.88[AFR][1000 genomes]
rs7319019	0.83[AFR][1000 genomes]
rs73491507	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73491522	0.86[AFR][1000 genomes]
rs73494027	0.85[AFR][1000 genomes]
rs73494029	0.85[AFR][1000 genomes]
rs73494031	0.85[AFR][1000 genomes]
rs74078710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74078712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74078721	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs74078724	0.84[EUR][1000 genomes]
rs7986331	0.97[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs8001223	0.91[AFR][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	esv1851738	chr13:50474326-50507944	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50476400-50497400	Weak transcription	Pancreas	Pancrea
2	chr13:50477800-50499600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr13:50478000-50487200	Weak transcription	Ovary	ovary
4	chr13:50478000-50495200	Weak transcription	Brain Hippocampus Middle	brain
5	chr13:50478600-50491400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:50479200-50489600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr13:50479400-50490600	Weak transcription	Esophagus	oesophagus
8	chr13:50479600-50508600	Weak transcription	K562	blood
9	chr13:50479800-50500000	Weak transcription	Colon Smooth Muscle	Colon
10	chr13:50480800-50508800	Weak transcription	Fetal Brain Male	brain
11	chr13:50481400-50489600	Weak transcription	Fetal Intestine Large	intestine
12	chr13:50481800-50509600	Weak transcription	Right Ventricle	heart
13	chr13:50482000-50488000	Weak transcription	A549	lung
14	chr13:50482200-50488000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr13:50482200-50490400	Weak transcription	Fetal Muscle Leg	muscle
16	chr13:50482400-50488000	Weak transcription	HMEC	breast
17	chr13:50482400-50489600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr13:50482600-50488000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr13:50482600-50490200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr13:50482600-50490400	Weak transcription	NHLF	lung
21	chr13:50482600-50509600	Weak transcription	Primary B cells from cord blood	blood
22	chr13:50482800-50488000	Weak transcription	Placenta	Placenta
23	chr13:50483000-50492200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr13:50483800-50490200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr13:50484000-50509600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr13:50484200-50490200	Weak transcription	Aorta	Aorta
27	chr13:50484200-50491600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr13:50484200-50494000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr13:50484400-50488000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr13:50484400-50488000	Weak transcription	HSMM	muscle
31	chr13:50484400-50489800	Weak transcription	NHEK	skin
32	chr13:50484400-50490000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr13:50484400-50490200	Weak transcription	NH-A	brain
34	chr13:50484400-50493600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr13:50484400-50501800	Weak transcription	HSMMtube	muscle
36	chr13:50484400-50509400	Weak transcription	Fetal Kidney	kidney
37	chr13:50484600-50488200	Weak transcription	NHDF-Ad	bronchial
38	chr13:50484600-50490400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr13:50484600-50490600	Weak transcription	Brain Angular Gyrus	brain
40	chr13:50484600-50492200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr13:50484600-50493000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr13:50484600-50495200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr13:50484600-50509600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr13:50484800-50490000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr13:50484800-50490200	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr13:50484800-50492200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr13:50485000-50487000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr13:50485000-50487800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr13:50485000-50492000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr13:50485000-50493000	Weak transcription	Primary B cells from peripheral blood	blood

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