Variant report

Variant	rs45555731
Chromosome Location	chr1:74987975-74987976
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17095389	1.00[AMR][1000 genomes]
rs17095391	1.00[AMR][1000 genomes]
rs17095394	1.00[AMR][1000 genomes]
rs17095399	1.00[AMR][1000 genomes]
rs17095400	1.00[AMR][1000 genomes]
rs45440691	1.00[AMR][1000 genomes]
rs45502291	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45510894	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45518034	1.00[AMR][1000 genomes]
rs45550040	1.00[AMR][1000 genomes]
rs45575343	1.00[AMR][1000 genomes]
rs45596933	1.00[AMR][1000 genomes]
rs45619234	1.00[AMR][1000 genomes]
rs45627331	1.00[AMR][1000 genomes]
rs56659298	1.00[AMR][1000 genomes]
rs61731320	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74978800-74989800	Weak transcription	Right Atrium	heart
2	chr1:74986800-74988200	Enhancers	Fetal Heart	heart
3	chr1:74986800-74989200	Weak transcription	Left Ventricle	heart
4	chr1:74986800-74989600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:74987200-74989800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:74987200-74992400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:74987400-74988400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:74987600-74988000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr1:74987600-74988200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr1:74987600-74988400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:74987600-74988400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:74987600-74988600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:74987800-74988000	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:74987800-74988200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr1:74987800-74988200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr1:74987800-74988200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:74987800-74988400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:74987800-74988400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr1:74987800-74988600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr1:74987800-74988600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:74987800-74988800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:74987800-74988800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:74987800-74988800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:74987800-74988800	Enhancers	HSMMtube	muscle

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