Variant report

Variant	rs34171748
Chromosome Location	chr6:27970704-27970705
allele	AA/GC
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27965316..27968016-chr6:27970592..27972506,2	K562	blood:
2	chr6:27969309..27971948-chr6:27974273..27976504,2	K562	blood:
3	chr6:27969301..27971471-chr6:27975045..27977766,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs149855	0.82[EUR][1000 genomes]
rs149897	0.82[AFR][1000 genomes]
rs149899	0.83[AMR][1000 genomes]
rs149941	0.86[AFR][1000 genomes]
rs149942	0.85[AFR][1000 genomes]
rs149944	0.85[AFR][1000 genomes]
rs149945	0.86[AFR][1000 genomes]
rs149946	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs149947	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs149948	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149961	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs149964	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs149968	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs149969	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs149970	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149972	0.91[AFR][1000 genomes]
rs156734	0.83[AFR][1000 genomes]
rs156736	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs156744	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs172166	0.83[AMR][1000 genomes]
rs200969	0.85[EUR][1000 genomes]
rs200978	0.85[EUR][1000 genomes]
rs203890	0.83[AMR][1000 genomes]
rs464312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs469227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs573179	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432858	chr6:27719375-28011652	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	387 gene(s)	inside rSNPs	diseases
2	nsv1022651	chr6:27864217-28017997	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv830619	chr6:27872302-28062544	Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27969200-27971800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:27969200-27971800	Weak transcription	K562	blood
3	chr6:27969800-27972200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:27970000-27971000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:27970000-27971000	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr6:27970000-27971200	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr6:27970200-27971200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:27970200-27971200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr6:27970200-27971200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr6:27970400-27970800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:27970400-27971600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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