Variant report

Variant	rs9982002
Chromosome Location	chr21:46116864-46116865
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr21:46116533-46116878	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr21:46116427-46116948	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
KRTAP10-12	TF binding region

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

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

rs_ID	r²[population]
rs11909180	1.00[ASN][1000 genomes]
rs2243667	1.00[ASN][1000 genomes]
rs2838630	0.87[ASN][1000 genomes]
rs2838639	1.00[ASN][1000 genomes]
rs2838645	0.93[ASN][1000 genomes]
rs2838649	0.96[ASN][1000 genomes]
rs28797484	0.98[ASN][1000 genomes]
rs4818962	0.83[ASN][1000 genomes]
rs56829302	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60154040	0.93[ASN][1000 genomes]
rs60327918	0.96[ASN][1000 genomes]
rs60681728	1.00[ASN][1000 genomes]
rs7283084	0.96[ASN][1000 genomes]
rs8132905	0.98[ASN][1000 genomes]
rs9637188	0.96[ASN][1000 genomes]
rs9975249	1.00[ASN][1000 genomes]
rs9980087	0.98[ASN][1000 genomes]
rs9981523	0.98[ASN][1000 genomes]
rs9981573	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9981618	0.96[ASN][1000 genomes]
rs9984476	0.96[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	chr21:46101000-46122200	Weak transcription	Right Atrium	heart
2	chr21:46114400-46124400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr21:46115200-46117200	Enhancers	HepG2	liver
4	chr21:46115600-46117600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr21:46115800-46117600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr21:46115800-46117800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr21:46116200-46118600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr21:46116400-46117000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr21:46116400-46120400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr21:46116400-46121800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr21:46116600-46117000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr21:46116600-46117000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr21:46116600-46117400	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr21:46116600-46120400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr21:46116600-46121000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr21:46116800-46117600	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr21:46116800-46118400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr21:46116800-46118400	Enhancers	HUES64 Cell Line	embryonic stem cell

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