Variant report

Variant	rs7563975
Chromosome Location	chr2:48427380-48427381
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11895219	1.00[MEX][hapmap]
rs11895236	1.00[AMR][1000 genomes]
rs11903455	0.83[AMR][1000 genomes]
rs2175137	0.87[AFR][1000 genomes]
rs28882492	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72883970	0.83[AMR][1000 genomes]
rs72883979	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7586226	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv581773	chr2:48277490-48443109	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1005241	chr2:48413134-48493182	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2762552	chr2:48413146-48493182	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv457407	chr2:48414735-48493182	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv581774	chr2:48414735-48493182	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1001850	chr2:48421389-48492090	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv535681	chr2:48421389-48492090	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48423400-48428200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr2:48423600-48432600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:48423800-48435800	Weak transcription	Right Atrium	heart
4	chr2:48424000-48432400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:48424600-48428200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:48424600-48431400	Weak transcription	Brain Angular Gyrus	brain
7	chr2:48424600-48432600	Weak transcription	HSMMtube	muscle
8	chr2:48424600-48434000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:48424800-48434000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:48425000-48429400	Weak transcription	Liver	Liver
11	chr2:48425200-48431800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:48426000-48427400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:48426000-48428000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:48426200-48434000	Weak transcription	Spleen	Spleen
15	chr2:48426200-48436200	Weak transcription	Right Ventricle	heart
16	chr2:48426400-48433800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:48426600-48427400	Weak transcription	GM12878-XiMat	blood
18	chr2:48426600-48427600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:48426600-48427600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:48426600-48431200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:48426600-48431200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:48426600-48431200	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:48426600-48431200	Weak transcription	Brain Substantia Nigra	brain
24	chr2:48426600-48431600	Weak transcription	Brain Anterior Caudate	brain
25	chr2:48426600-48431600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:48426600-48432400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:48426800-48432200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:48426800-48433800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:48426800-48434000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:48426800-48436400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:48427000-48427400	Weak transcription	HepG2	liver
32	chr2:48427000-48431800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:48427200-48428600	Enhancers	K562	blood

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