Variant report

Variant	rs2852704
Chromosome Location	chr1:158834379-158834380
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158821520..158824176-chr1:158832622..158835555,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1102018	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2260107	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2427820	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2427822	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2494075	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2511204	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2518517	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2518519	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2518534	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2518543	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2518544	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2518545	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2518546	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2518547	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2518548	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2518549	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2518550	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2518551	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2518552	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2793850	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2793852	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2793853	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2793854	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2820126	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2820147	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2820148	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2820149	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2820150	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2820151	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2820152	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2820153	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2820154	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2820156	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2820157	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2820162	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2820167	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2820191	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2820192	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2820194	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2820195	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2852652	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852662	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2852663	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2852664	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2852665	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2852666	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2852667	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2852687	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2852688	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2852703	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852711	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852712	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2852713	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4338350	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7419186	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs856096	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs856103	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs856104	0.88[ASN][1000 genomes]
rs856105	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs856107	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs856108	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs856114	0.81[EUR][1000 genomes]
rs856115	0.81[EUR][1000 genomes]
rs856116	0.81[EUR][1000 genomes]
rs856117	0.81[EUR][1000 genomes]
rs856118	0.80[EUR][1000 genomes]
rs856119	0.80[EUR][1000 genomes]
rs856123	0.88[ASN][1000 genomes]
rs856151	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs860636	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006288	chr1:158684002-158844221	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv535181	chr1:158684002-158844221	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv817245	chr1:158684003-158844220	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv547988	chr1:158685036-158848064	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv547989	chr1:158685036-158852953	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1011085	chr1:158703583-158845135	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
7	nsv1002401	chr1:158712627-158972031	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv3376764	chr1:158761947-158998617	Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	esv1826544	chr1:158833750-158891391	Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv1830425	chr1:158833750-158891391	Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv1844046	chr1:158833750-158891391	Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158833600-158835000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:158834000-158834400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:158834200-158834600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr1:158834200-158834600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:158834200-158834600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:158834200-158834600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:158834200-158834600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:158834200-158834600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:158834200-158834800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr1:158834200-158834800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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