Variant report

Variant	rs16847270
Chromosome Location	chr1:162033508-162033509
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:162032575..162035434-chr1:162038030..162042128,3	MCF-7	breast:
2	chr1:162031037..162035944-chr1:162530129..162533498,5	K562	blood:
3	chr1:162025251..162029284-chr1:162031046..162035919,4	K562	blood:
4	chr1:162031037..162034970-chr1:162530215..162533498,4	K562	blood:

Variant related genes	Relation type
ENSG00000117143	Chromatin interaction
ENSG00000198929	Chromatin interaction
ENSG00000259788	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10918689	0.85[AMR][1000 genomes]
rs10918690	0.85[AMR][1000 genomes]
rs10918691	0.85[AMR][1000 genomes]
rs12081556	0.85[AMR][1000 genomes]
rs12119861	1.00[CHB][hapmap]
rs16847167	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847220	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847428	1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2490421	1.00[CHB][hapmap]
rs28705106	0.85[AMR][1000 genomes]
rs4256791	0.85[AMR][1000 genomes]
rs4278353	0.85[AMR][1000 genomes]
rs4279833	0.85[AMR][1000 genomes]
rs4422984	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv831747	chr1:161926367-162103311	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:162031400-162035000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr1:162032000-162034000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr1:162032200-162033800	Enhancers	Fetal Lung	lung
4	chr1:162032200-162034000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:162032400-162033600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:162032400-162033600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:162032600-162034400	Weak transcription	Left Ventricle	heart
8	chr1:162032600-162038600	Weak transcription	Right Ventricle	heart
9	chr1:162033000-162033800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:162033000-162034800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:162033000-162034800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:162033000-162035000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:162033000-162035000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:162033000-162035000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:162033000-162035000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:162033000-162035000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:162033000-162038400	Weak transcription	Aorta	Aorta
18	chr1:162033200-162035000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:162033200-162035200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:162033200-162037000	Weak transcription	Fetal Kidney	kidney
21	chr1:162033200-162037200	Weak transcription	Fetal Heart	heart
22	chr1:162033200-162037200	Weak transcription	Hela-S3	cervix
23	chr1:162033200-162038800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:162033400-162034800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:162033400-162035000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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