Variant report

Variant	rs4818050
Chromosome Location	chr21:40910600-40910601
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40901121..40903929-chr21:40907917..40910902,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1076564	0.91[AMR][1000 genomes]
rs11088485	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12626411	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12626423	0.84[EUR][1000 genomes]
rs12626478	0.84[EUR][1000 genomes]
rs12626494	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12626783	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12626791	0.84[EUR][1000 genomes]
rs12627448	0.82[EUR][1000 genomes]
rs12627674	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12627733	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2837078	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2837084	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2837085	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2837087	0.91[AMR][1000 genomes]
rs2837088	0.91[AMR][1000 genomes]
rs2837089	0.91[AMR][1000 genomes]
rs2837090	0.82[AMR][1000 genomes]
rs4816633	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4818048	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4818049	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4818052	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4818054	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4818057	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73356097	0.91[ASN][1000 genomes]
rs914160	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9712617	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1062088	chr21:40838027-40919253	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2756754	chr21:40857523-40966156	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2758820	chr21:40857523-40966156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv34779	chr21:40884871-40977473	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv433457	chr21:40900348-40964553	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1057956	chr21:40907707-41393396	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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
9	nsv544444	chr21:40907707-41393396	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40909200-40910600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:40909200-40910600	Enhancers	Stomach Mucosa	stomach
3	chr21:40909200-40912200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr21:40909600-40910600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr21:40909600-40910800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr21:40909800-40910600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr21:40909800-40910600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr21:40909800-40910600	Enhancers	Brain Anterior Caudate	brain
9	chr21:40909800-40910800	Enhancers	H9 Cell Line	embryonic stem cell
10	chr21:40910000-40910600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr21:40910000-40911000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr21:40910000-40911600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr21:40910200-40910600	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr21:40910200-40910600	Bivalent Enhancer	Small Intestine	intestine
15	chr21:40910400-40910600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr21:40910400-40910600	Enhancers	Pancreas	Pancrea
17	chr21:40910400-40910600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr21:40910400-40910800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr21:40910400-40910800	Enhancers	Colonic Mucosa	Colon
20	chr21:40910400-40911000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr21:40910400-40911200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
22	chr21:40910400-40912800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr21:40910600-40910800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr21:40910600-40911000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr21:40910600-40911200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr21:40910600-40914000	Weak transcription	Stomach Mucosa	stomach

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