Variant report

Variant	rs7558047
Chromosome Location	chr2:74474693-74474694
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74474393..74476736-chr2:74479092..74481052,2	K562	blood:
2	chr2:74424362..74427305-chr2:74471867..74475240,3	K562	blood:
3	chr2:74469977..74471909-chr2:74474642..74477346,2	K562	blood:
4	chr2:74474110..74476610-chr2:74483390..74486162,3	MCF-7	breast:
5	chr2:74473550..74475234-chr2:74482336..74484539,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000065911	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13024188	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6546896	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6731545	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7561242	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs895987	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[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	esv3427010	chr2:74351730-74813541	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
2	nsv834261	chr2:74391709-74613720	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3401140	chr2:74439333-74533696	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	esv3380034	chr2:74439354-74533666	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74427400-74484400	Weak transcription	Fetal Lung	lung
2	chr2:74427800-74494200	Weak transcription	Brain Germinal Matrix	brain
3	chr2:74439800-74525200	Weak transcription	Fetal Brain Male	brain
4	chr2:74441800-74490400	Weak transcription	Fetal Brain Female	brain
5	chr2:74442400-74477400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:74444800-74494200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:74448800-74494000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr2:74449200-74502200	Weak transcription	Spleen	Spleen
9	chr2:74449400-74494000	Weak transcription	Primary T cells from cord blood	blood
10	chr2:74449400-74507000	Weak transcription	Brain Anterior Caudate	brain
11	chr2:74450000-74494000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr2:74454200-74508200	Weak transcription	Ovary	ovary
13	chr2:74455600-74480000	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:74458600-74483400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:74458800-74488200	Weak transcription	Pancreas	Pancrea
16	chr2:74462200-74494000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr2:74462400-74493800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:74462600-74509600	Weak transcription	Brain Substantia Nigra	brain
19	chr2:74463000-74544800	Weak transcription	Brain Angular Gyrus	brain
20	chr2:74466400-74492800	Weak transcription	Adipose Nuclei	Adipose
21	chr2:74469400-74485200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:74470400-74527800	Weak transcription	Aorta	Aorta
23	chr2:74470400-74528000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:74470600-74481400	Weak transcription	Left Ventricle	heart
25	chr2:74470600-74511800	Weak transcription	Right Ventricle	heart
26	chr2:74470600-74518200	Weak transcription	Gastric	stomach
27	chr2:74473000-74475800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:74473200-74476600	Strong transcription	Brain Hippocampus Middle	brain
29	chr2:74473400-74477400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:74473800-74491000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:74473800-74494200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:74474000-74474800	Strong transcription	Fetal Stomach	stomach
33	chr2:74474000-74476400	Weak transcription	K562	blood
34	chr2:74474000-74494200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:74474200-74481200	Weak transcription	Lung	lung
36	chr2:74474200-74495600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr2:74474400-74481400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:74474400-74528400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr2:74474600-74481200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:74474600-74540400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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