Variant report

Variant	rs73153576
Chromosome Location	chr5:98243940-98243941
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:98243145..98245270-chr5:98261577..98263957,2	MCF-7	breast:
2	chr5:98235646..98238054-chr5:98241311..98244190,2	K562	blood:
3	chr5:98241653..98244052-chr5:98264053..98266150,4	MCF-7	breast:
4	chr5:98243191..98245221-chr5:98386260..98388013,2	K562	blood:
5	chr5:98220233..98222230-chr5:98242414..98244747,2	K562	blood:

Variant related genes	Relation type
ENSG00000248489	Chromatin interaction
ENSG00000153922	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs73151483	1.00[AMR][1000 genomes]
rs73153536	1.00[AMR][1000 genomes]
rs73153543	1.00[AMR][1000 genomes]
rs73153568	1.00[AMR][1000 genomes]
rs73153570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73153582	1.00[AMR][1000 genomes]
rs73155405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73155440	1.00[AMR][1000 genomes]
rs73159437	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882415	chr5:98134186-98312447	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv882416	chr5:98146106-98312447	Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv537818	chr5:98241627-98279192	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 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	chr5:98188400-98247000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:98200000-98263000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:98215000-98263000	Weak transcription	Esophagus	oesophagus
4	chr5:98222000-98247000	Weak transcription	Fetal Heart	heart
5	chr5:98225800-98258400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:98228200-98259200	Weak transcription	Spleen	Spleen
7	chr5:98228400-98259200	Weak transcription	Gastric	stomach
8	chr5:98228400-98259400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr5:98228400-98263000	Weak transcription	Aorta	Aorta
10	chr5:98232000-98247000	Weak transcription	Right Ventricle	heart
11	chr5:98232000-98254200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:98232000-98258200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:98232000-98259200	Weak transcription	Pancreas	Pancrea
14	chr5:98233600-98245200	Weak transcription	Brain Hippocampus Middle	brain
15	chr5:98235000-98247000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:98235000-98262600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:98235200-98261600	Weak transcription	Fetal Kidney	kidney
18	chr5:98235400-98262600	Weak transcription	Fetal Brain Male	brain
19	chr5:98236000-98256800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr5:98236400-98256600	Weak transcription	Lung	lung
21	chr5:98236400-98258400	Weak transcription	Brain Germinal Matrix	brain
22	chr5:98236400-98263200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr5:98236600-98247000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr5:98236600-98248000	Weak transcription	Fetal Intestine Small	intestine
25	chr5:98236600-98248000	Weak transcription	Fetal Stomach	stomach
26	chr5:98236600-98249600	Weak transcription	Psoas Muscle	Psoas
27	chr5:98236600-98257600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr5:98236600-98259000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:98236600-98261000	Weak transcription	Small Intestine	intestine
30	chr5:98236600-98261600	Weak transcription	Fetal Brain Female	brain
31	chr5:98236600-98263000	Weak transcription	Ovary	ovary
32	chr5:98236800-98246400	Weak transcription	Brain Anterior Caudate	brain
33	chr5:98236800-98247000	Weak transcription	Brain Angular Gyrus	brain
34	chr5:98236800-98248000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr5:98236800-98249800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr5:98236800-98253600	Weak transcription	Left Ventricle	heart
37	chr5:98236800-98254000	Weak transcription	Fetal Muscle Leg	muscle
38	chr5:98236800-98256000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:98236800-98263000	Weak transcription	Brain Substantia Nigra	brain
40	chr5:98237000-98245200	Weak transcription	Colon Smooth Muscle	Colon
41	chr5:98237000-98248000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:98237000-98252800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr5:98237000-98256000	Weak transcription	HSMMtube	muscle
44	chr5:98237000-98258600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr5:98237000-98259200	Weak transcription	Colonic Mucosa	Colon
46	chr5:98238000-98245200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr5:98238800-98247000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr5:98239200-98245200	Weak transcription	NHDF-Ad	bronchial
49	chr5:98239200-98252800	Weak transcription	NHLF	lung
50	chr5:98240000-98247200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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