Variant report

Variant	rs2836984
Chromosome Location	chr21:40700949-40700950
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40696801..40699302-chr21:40699637..40702550,2	K562	blood:
2	chr21:40699788..40702624-chr21:40715350..40718145,2	K562	blood:
3	chr21:40696329..40702419-chr21:40706472..40712889,11	K562	blood:
4	21:40695608-40702099..21:40757151-40764378	K562	blood:

Variant related genes	Relation type
ENSG00000238556	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000252915	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1029004	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11088466	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11088470	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11701805	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11702505	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11910232	0.84[EUR][1000 genomes]
rs11911087	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12483559	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12627205	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13047518	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13049907	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1474490	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2056844	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2070865	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2150411	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2150413	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2150414	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2836930	0.81[AMR][1000 genomes]
rs2836940	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2836942	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2836943	0.81[EUR][1000 genomes]
rs2836945	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2836948	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2836949	0.81[EUR][1000 genomes]
rs2836952	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2836956	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2836958	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2836959	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2836966	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2836980	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2836983	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2836985	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34890172	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35769610	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35994303	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4816618	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4818001	0.81[AMR][1000 genomes]
rs4818018	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4818019	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59916147	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62223011	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62223039	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62223052	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7276046	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7278297	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7282582	0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8127379	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8129595	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8130162	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8132143	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8132424	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8133928	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459259	chr21:40571246-40701169	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv587480	chr21:40571246-40701169	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv913744	chr21:40670167-40757973	Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
4	nsv1059420	chr21:40684295-40745952	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
5	nsv587482	chr21:40684427-40706594	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv587483	chr21:40686327-40718161	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2836984	HMGN1	cis	multi-tissue	Pritchard
rs2836984	PSMG1	cis	Artery Tibial	GTEx
rs2836984	HMGN1	Cis_1M	lymphoblastoid	RTeQTL
rs2836984	BRWD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40692400-40718400	Weak transcription	Right Atrium	heart
2	chr21:40699200-40704200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:40699200-40712600	Weak transcription	Fetal Muscle Leg	muscle
4	chr21:40699400-40703800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr21:40699400-40703800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr21:40699400-40703800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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