Variant report

Variant	rs9975614
Chromosome Location	chr21:40701919-40701920
allele	A/G
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	chr21:40693090..40695727-chr21:40701120..40703324,2	K562	blood:
4	chr21:40696329..40702419-chr21:40706472..40712889,11	K562	blood:
5	21:40695608-40702099..21:40757151-40764378	K562	blood:
6	chr21:40685395..40687495-chr21:40701399..40702903,2	K562	blood:

Variant related genes	Relation type
ENSG00000238556	Chromatin interaction
ENSG00000252915	Chromatin interaction
ENSG00000255568	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000185658	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs1041439	0.84[EUR][1000 genomes]
rs11702268	0.90[EUR][1000 genomes]
rs11910971	0.90[EUR][1000 genomes]
rs13050247	0.84[EUR][1000 genomes]
rs13050584	0.84[EUR][1000 genomes]
rs13051430	0.84[EUR][1000 genomes]
rs1541100	0.90[EUR][1000 genomes]
rs1541101	0.90[EUR][1000 genomes]
rs1888488	0.80[ASN][1000 genomes]
rs1984748	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2026266	0.90[EUR][1000 genomes]
rs2037925	0.85[ASN][1000 genomes]
rs2070867	0.82[ASN][1000 genomes]
rs2142117	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2150410	0.84[EUR][1000 genomes]
rs2150412	0.84[EUR][1000 genomes]
rs2183574	0.90[EUR][1000 genomes]
rs2183575	0.90[EUR][1000 genomes]
rs2183576	0.90[EUR][1000 genomes]
rs2225425	0.83[EUR][1000 genomes]
rs2272576	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2272577	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2272578	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2297258	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2410104	0.83[EUR][1000 genomes]
rs2410121	0.90[EUR][1000 genomes]
rs2410123	0.84[ASN][1000 genomes]
rs2410124	0.85[ASN][1000 genomes]
rs2776310	0.82[ASN][1000 genomes]
rs2836981	0.82[ASN][1000 genomes]
rs2836987	0.84[ASN][1000 genomes]
rs2836988	0.83[ASN][1000 genomes]
rs3746885	0.90[ASN][1000 genomes]
rs3746886	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs383967	0.84[EUR][1000 genomes]
rs391062	0.84[EUR][1000 genomes]
rs413078	0.84[EUR][1000 genomes]
rs425988	0.84[EUR][1000 genomes]
rs444130	0.84[EUR][1000 genomes]
rs452776	0.84[EUR][1000 genomes]
rs4816619	0.90[EUR][1000 genomes]
rs4816623	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4818004	0.89[EUR][1000 genomes]
rs4818006	0.90[EUR][1000 genomes]
rs4818007	0.90[EUR][1000 genomes]
rs4818011	0.90[EUR][1000 genomes]
rs4818012	0.90[EUR][1000 genomes]
rs4818017	0.82[ASN][1000 genomes]
rs4818024	0.80[ASN][1000 genomes]
rs6517520	0.84[EUR][1000 genomes]
rs6517524	0.84[EUR][1000 genomes]
rs6517525	0.84[EUR][1000 genomes]
rs6517529	0.90[EUR][1000 genomes]
rs6517530	0.90[EUR][1000 genomes]
rs6517531	0.90[EUR][1000 genomes]
rs6517532	0.90[EUR][1000 genomes]
rs6517534	0.84[EUR][1000 genomes]
rs6517536	0.90[EUR][1000 genomes]
rs6517537	0.87[EUR][1000 genomes]
rs6517539	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6517540	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6517541	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6650847	0.84[EUR][1000 genomes]
rs66519408	0.84[EUR][1000 genomes]
rs66746936	0.84[EUR][1000 genomes]
rs67212994	0.84[EUR][1000 genomes]
rs67649754	0.84[EUR][1000 genomes]
rs68114370	0.84[EUR][1000 genomes]
rs718225	0.90[EUR][1000 genomes]
rs726046	0.83[ASN][1000 genomes]
rs7275773	0.90[EUR][1000 genomes]
rs7276559	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7276698	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7279558	0.82[ASN][1000 genomes]
rs7280149	0.89[EUR][1000 genomes]
rs7280326	0.85[ASN][1000 genomes]
rs7282029	0.84[EUR][1000 genomes]
rs7282724	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7282947	0.90[EUR][1000 genomes]
rs7283439	0.89[EUR][1000 genomes]
rs7283652	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8127391	0.90[EUR][1000 genomes]
rs8127537	0.84[EUR][1000 genomes]
rs8127986	0.81[ASN][1000 genomes]
rs8128118	0.86[EUR][1000 genomes]
rs8129847	0.86[EUR][1000 genomes]
rs8130099	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8130774	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8130854	0.84[ASN][1000 genomes]
rs8131091	0.90[EUR][1000 genomes]
rs8131150	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8131263	0.90[EUR][1000 genomes]
rs8131307	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8132230	0.90[EUR][1000 genomes]
rs914157	0.90[EUR][1000 genomes]
rs971229	0.90[EUR][1000 genomes]
rs973521	0.90[EUR][1000 genomes]
rs9978591	0.90[EUR][1000 genomes]
rs9978953	0.89[EUR][1000 genomes]
rs9979547	0.89[EUR][1000 genomes]
rs9981656	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9982122	0.84[EUR][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	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
2	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
3	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
4	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

No data

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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