Variant report

Variant	rs62458793
Chromosome Location	chr7:69479500-69479501
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs62458775	0.81[EUR][1000 genomes]
rs62458778	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62458790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62458807	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv1018289	chr7:69383450-69650885	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv538922	chr7:69383450-69650885	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1034281	chr7:69403828-69548378	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv538923	chr7:69403828-69548378	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1034182	chr7:69406172-69529294	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv538924	chr7:69406172-69529294	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv2758119	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	esv2759536	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv607429	chr7:69430748-69553093	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv1028705	chr7:69453983-69524628	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv1020488	chr7:69465268-69671126	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69472200-69479600	Weak transcription	Fetal Stomach	stomach
2	chr7:69472200-69479600	Weak transcription	GM12878-XiMat	blood
3	chr7:69472600-69479600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:69477200-69481400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:69477200-69482400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:69477200-69490400	Weak transcription	Left Ventricle	heart
7	chr7:69477200-69507600	Weak transcription	Right Atrium	heart
8	chr7:69477600-69480000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr7:69477600-69480200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:69477800-69480400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:69477800-69482200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:69478000-69481000	Weak transcription	Fetal Heart	heart
13	chr7:69478400-69479600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:69478400-69480800	Enhancers	Dnd41	blood
15	chr7:69478600-69479600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:69478600-69479600	Weak transcription	Thymus	Thymus
17	chr7:69478600-69481000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr7:69478600-69491000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:69478800-69479600	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:69479000-69481200	Enhancers	Fetal Brain Male	brain
21	chr7:69479200-69480000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:69479200-69480200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr7:69479200-69480200	Enhancers	Primary B cells from peripheral blood	blood
24	chr7:69479200-69480800	Enhancers	Fetal Brain Female	brain
25	chr7:69479200-69481400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr7:69479200-69481600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:69479200-69481600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:69479200-69481800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:69479200-69482600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr7:69479200-69483400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:69479200-69483400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:69479400-69479600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:69479400-69479600	Enhancers	Fetal Kidney	kidney
34	chr7:69479400-69480200	Enhancers	Primary B cells from cord blood	blood
35	chr7:69479400-69482400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr7:69479400-69482600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:69479400-69482600	Enhancers	Fetal Thymus	thymus
38	chr7:69479400-69483200	Enhancers	Fetal Lung	lung

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