Variant report

Variant	rs45493493
Chromosome Location	chr1:74988875-74988876
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12092011	1.00[AMR][1000 genomes]
rs12093531	1.00[AMR][1000 genomes]
rs45498097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003171	chr1:74407468-75122270	Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv535000	chr1:74407468-75122270	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1010042	chr1:74798856-75001977	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1002903	chr1:74831209-74993866	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv830248	chr1:74962391-75144458	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv525557	chr1:74977705-74991644	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv1003356	chr1:74983681-75024938	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv871900	chr1:74983835-75014195	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74978800-74989800	Weak transcription	Right Atrium	heart
2	chr1:74986800-74989200	Weak transcription	Left Ventricle	heart
3	chr1:74986800-74989600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:74987200-74989800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:74987200-74992400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:74988000-74990400	Enhancers	H9 Cell Line	embryonic stem cell
7	chr1:74988000-74991800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:74988200-74989000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:74988200-74989200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:74988200-74989200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr1:74988200-74990000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:74988200-74990200	Weak transcription	Fetal Heart	heart
13	chr1:74988400-74989600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:74988400-74991200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:74988400-74992000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:74988600-74990800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:74988600-74991200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr1:74988800-74989200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:74988800-74990000	Weak transcription	HSMMtube	muscle
20	chr1:74988800-74990600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:74988800-74991600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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