Variant report

Variant	rs998421
Chromosome Location	chr21:46123355-46123356
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:46119768..46122528-chr21:46123113..46125261,2	MCF-7	breast:
2	chr21:46123174..46125281-chr21:46125754..46127602,2	K562	blood:

Variant related genes	Relation type
ENSG00000236382	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1107119	0.92[CHB][hapmap];0.81[JPT][hapmap]
rs1108261	0.84[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11700586	0.82[ASN][1000 genomes]
rs13048736	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13050276	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13051842	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1467385	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1883044	0.85[ASN][1000 genomes]
rs2329895	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2838642	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838643	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838647	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34103049	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34163868	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34538966	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34800343	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35534934	0.83[ASN][1000 genomes]
rs4818965	0.85[EUR][1000 genomes]
rs71317705	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8132257	0.89[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs878551	0.84[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription 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	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46114400-46124400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:46118400-46123400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr21:46121400-46125200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr21:46121600-46123800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr21:46121800-46123600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr21:46121800-46124200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr21:46121800-46124400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr21:46122400-46123400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
9	chr21:46122800-46123600	Flanking Bivalent TSS/Enh	HepG2	liver
10	chr21:46122800-46129400	Weak transcription	Right Atrium	heart
11	chr21:46123000-46124000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
12	chr21:46123000-46124200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr21:46123200-46123400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr21:46123200-46123400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr21:46123200-46123400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr21:46123200-46124000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
17	chr21:46123200-46124200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr21:46123200-46124600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

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