Variant report

Variant	rs9981656
Chromosome Location	chr21:40695042-40695043
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr21:40694789-40695286	K562	blood:	n/a	n/a
2	CEBPB	chr21:40694869-40695058	K562	blood:	n/a	n/a
3	GATA3	chr21:40693297-40695267	MCF-7	breast:	n/a	n/a
4	CEBPB	chr21:40694804-40695127	K562	blood:	n/a	n/a
5	NR2F2	chr21:40694774-40695108	K562	blood:	n/a	n/a
6	NR2F2	chr21:40693294-40695179	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:40681596..40696529-chr21:40715399..40724266,46	K562	blood:
2	chr17:56707811..56709581-chr21:40694952..40696584,2	MCF-7	breast:
3	chr21:40691963..40695047-chr21:40751458..40754017,3	MCF-7	breast:
4	chr21:40693407..40696384-chr21:40756189..40758708,3	MCF-7	breast:
5	chr21:40694517..40696973-chr21:40756862..40760741,3	MCF-7	breast:
6	chr21:40693463..40696053-chr21:40759629..40761307,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WRB-2	chr21:40694728-40695144	XLOC_013942

No data

Variant related genes	Relation type
BRWD1	TF binding region
ENSG00000182093	Chromatin interaction
ENSG00000238556	Chromatin interaction
ENSG00000252915	Chromatin interaction
ENSG00000205581	Chromatin interaction
ENSG00000212195	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10154057	0.81[EUR][1000 genomes]
rs1041439	0.87[EUR][1000 genomes]
rs11702268	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11910705	0.82[ASN][1000 genomes]
rs11910906	0.81[ASN][1000 genomes]
rs11910971	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13050247	0.87[EUR][1000 genomes]
rs13050584	0.87[EUR][1000 genomes]
rs13051430	0.87[EUR][1000 genomes]
rs1541100	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1541101	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1888488	0.86[ASN][1000 genomes]
rs1984748	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2026266	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2037925	0.83[ASN][1000 genomes]
rs2070867	0.82[EUR][1000 genomes]
rs2142117	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2150410	0.87[EUR][1000 genomes]
rs2150412	0.87[EUR][1000 genomes]
rs2183574	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2183575	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2183576	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2225425	0.86[EUR][1000 genomes]
rs2236437	0.82[EUR][1000 genomes]
rs2272576	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2272577	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2272578	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2297258	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2410104	0.85[EUR][1000 genomes]
rs2410121	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2410123	0.82[ASN][1000 genomes]
rs2410124	0.83[ASN][1000 genomes]
rs2776310	0.82[EUR][1000 genomes]
rs2836981	0.87[ASN][1000 genomes]
rs2836987	0.82[ASN][1000 genomes]
rs2836988	0.81[ASN][1000 genomes]
rs34240248	0.84[ASN][1000 genomes]
rs34436313	0.84[ASN][1000 genomes]
rs35182074	0.83[ASN][1000 genomes]
rs3746885	0.96[ASN][1000 genomes]
rs3746886	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs383967	0.87[EUR][1000 genomes]
rs391062	0.87[EUR][1000 genomes]
rs413078	0.87[EUR][1000 genomes]
rs425988	0.87[EUR][1000 genomes]
rs444130	0.87[EUR][1000 genomes]
rs452776	0.87[EUR][1000 genomes]
rs4624474	0.83[ASN][1000 genomes]
rs4816619	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4816623	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4818004	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4818006	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4818007	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4818011	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4818012	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4818014	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4818017	0.87[ASN][1000 genomes]
rs55885019	0.81[EUR][1000 genomes]
rs61300849	0.84[ASN][1000 genomes]
rs6517520	0.87[EUR][1000 genomes]
rs6517524	0.87[EUR][1000 genomes]
rs6517525	0.87[EUR][1000 genomes]
rs6517529	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6517530	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6517531	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6517532	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6517534	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6517536	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6517537	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6517539	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6517540	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6517541	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6650847	0.87[EUR][1000 genomes]
rs66519408	0.87[EUR][1000 genomes]
rs66746936	0.87[EUR][1000 genomes]
rs67212994	0.87[EUR][1000 genomes]
rs67382266	0.81[EUR][1000 genomes]
rs67649754	0.87[EUR][1000 genomes]
rs68069991	0.81[EUR][1000 genomes]
rs68086041	0.81[EUR][1000 genomes]
rs68114370	0.87[EUR][1000 genomes]
rs718225	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs726046	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7275773	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7276559	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7276698	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7279558	0.87[ASN][1000 genomes]
rs7280149	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7280326	0.83[ASN][1000 genomes]
rs7282029	0.87[EUR][1000 genomes]
rs7282724	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7282947	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7283439	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7283652	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8127391	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8127537	0.87[EUR][1000 genomes]
rs8127986	0.86[ASN][1000 genomes]
rs8128118	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8129847	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8130099	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8130774	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8130854	0.82[ASN][1000 genomes]
rs8131067	0.80[ASN][1000 genomes]
rs8131091	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8131150	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8131263	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8131307	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8132230	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs914157	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs971229	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs973521	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9975410	0.81[EUR][1000 genomes]
rs9975614	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9978591	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9978953	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9979547	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9981301	0.83[ASN][1000 genomes]
rs9982122	0.87[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

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40692400-40718400	Weak transcription	Right Atrium	heart
2	chr21:40694200-40695800	Enhancers	Placenta	Placenta
3	chr21:40694600-40695200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr21:40694800-40695800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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