Variant report

Variant	rs58974518
Chromosome Location	chr7:69336887-69336888
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:69334524..69336993-chr7:69356452..69358911,2	MCF-7	breast:
2	chr7:69333993..69336965-chr7:69341808..69343706,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10487941	1.00[AMR][1000 genomes]
rs17140848	0.89[ASN][1000 genomes]
rs17140871	0.89[ASN][1000 genomes]
rs17141015	0.91[ASN][1000 genomes]
rs17353017	0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17361399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17361448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17362481	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17362817	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17363468	0.84[EUR][1000 genomes]
rs17364237	1.00[AMR][1000 genomes]
rs17457848	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17458533	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17459271	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17459369	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17459722	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2191824	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4140975	0.83[ASN][1000 genomes]
rs58305621	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs59797025	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6460531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6970097	0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6975213	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7781686	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7790458	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831021	chr7:69122169-69364491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv492242	chr7:69330737-69520566	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69311400-69371600	Weak transcription	Primary B cells from cord blood	blood
2	chr7:69328000-69337600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr7:69330000-69337400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:69330400-69337000	Weak transcription	Brain Anterior Caudate	brain
5	chr7:69330400-69338000	Weak transcription	Thymus	Thymus
6	chr7:69330600-69337000	Weak transcription	GM12878-XiMat	blood
7	chr7:69334200-69337200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:69335600-69337000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:69335600-69337400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:69335600-69337400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr7:69335600-69337800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:69335600-69338600	Enhancers	Fetal Intestine Small	intestine
13	chr7:69335600-69339400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr7:69335800-69337600	Enhancers	NH-A	brain
15	chr7:69335800-69339400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:69336000-69337200	Enhancers	Osteobl	bone
17	chr7:69336000-69337400	Enhancers	Fetal Lung	lung
18	chr7:69336000-69337600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:69336000-69337600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:69336000-69337600	Enhancers	Fetal Heart	heart
21	chr7:69336000-69337600	Enhancers	HSMM	muscle
22	chr7:69336000-69337600	Enhancers	NHEK	skin
23	chr7:69336000-69338800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:69336000-69338800	Enhancers	Dnd41	blood
25	chr7:69336000-69339200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr7:69336200-69337200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:69336200-69337400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:69336200-69337600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:69336200-69338600	Enhancers	Fetal Intestine Large	intestine
30	chr7:69336200-69339200	Enhancers	NHDF-Ad	bronchial
31	chr7:69336400-69337000	Weak transcription	Fetal Brain Male	brain
32	chr7:69336400-69337200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:69336400-69337200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:69336400-69337400	Enhancers	Brain Cingulate Gyrus	brain
35	chr7:69336400-69337600	Enhancers	Brain Hippocampus Middle	brain
36	chr7:69336400-69337600	Enhancers	Duodenum Mucosa	Duodenum
37	chr7:69336600-69337000	Weak transcription	Psoas Muscle	Psoas
38	chr7:69336600-69337200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:69336600-69337200	Enhancers	Right Atrium	heart
40	chr7:69336600-69337200	Enhancers	Small Intestine	intestine
41	chr7:69336600-69337400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr7:69336600-69337400	Enhancers	HSMMtube	muscle
43	chr7:69336600-69337600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:69336600-69337600	Enhancers	Brain Substantia Nigra	brain
45	chr7:69336600-69337800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:69336600-69338400	Enhancers	Ovary	ovary
47	chr7:69336800-69337000	Flanking Active TSS	A549	lung
48	chr7:69336800-69337200	Weak transcription	Fetal Brain Female	brain
49	chr7:69336800-69337200	Enhancers	Left Ventricle	heart
50	chr7:69336800-69337200	Enhancers	Stomach Mucosa	stomach

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