Variant report

Variant	rs2836997
Chromosome Location	chr21:40751811-40751812
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr21:40751772-40752571	K562	blood:	n/a	chr21:40752156-40752170
2	POLR2A	chr21:40751803-40753200	Hela-S3	cervix:	n/a	n/a
3	EP300	chr21:40751803-40752311	K562	blood:	n/a	chr21:40752025-40752039
4	MXI1	chr21:40751755-40752542	GM12878	blood:	n/a	n/a
5	EP300	chr21:40751706-40752607	K562	blood:	n/a	chr21:40752025-40752039
6	POLR2A	chr21:40751745-40752645	PFSK-1	brain:	n/a	n/a
7	MYC	chr21:40751794-40752567	K562	blood:	n/a	n/a
8	ZMIZ1	chr21:40751785-40752440	K562	blood:	n/a	n/a
9	POLR2A	chr21:40751761-40752661	SK-N-MC	brain:	n/a	n/a
10	ELF1	chr21:40751778-40752519	MCF-7	breast:	n/a	n/a
11	BRCA1	chr21:40751668-40752533	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr21:40751381-40752670	K562	blood:	n/a	n/a
13	POLR2A	chr21:40751742-40752809	U87	brain:	n/a	n/a
14	TBP	chr21:40751794-40752575	K562	blood:	n/a	n/a
15	POLR2A	chr21:40751727-40752688	MCF10A-Er-Src	breast:	n/a	n/a
16	MYC	chr21:40751798-40752350	NB4	blood:	n/a	n/a
17	MXI1	chr21:40751707-40753530	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr21:40751654-40752609	K562	blood:	n/a	n/a
19	SIN3AK20	chr21:40751737-40753595	MCF-7	breast:	n/a	n/a
20	POLR2A	chr21:40751742-40752815	U87	brain:	n/a	n/a
21	PML	chr21:40751753-40752572	K562	blood:	n/a	n/a
22	POLR2A	chr21:40751800-40753180	Hela-S3	cervix:	n/a	n/a
23	TEAD4	chr21:40751619-40752678	K562	blood:	n/a	n/a
24	POLR2A	chr21:40751786-40752748	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr21:40751781-40752576	K562	blood:	n/a	n/a
26	POLR2A	chr21:40751810-40752634	GM12891	blood:	n/a	n/a
27	IRF1	chr21:40751708-40752523	K562	blood:	n/a	chr21:40752156-40752170
28	HCFC1	chr21:40751518-40753804	Hela-S3	cervix:	n/a	n/a
29	NRF1	chr21:40751653-40752687	SK-N-SH	brain:	n/a	chr21:40752228-40752242 chr21:40752230-40752241 chr21:40752231-40752242 chr21:40752185-40752196 chr21:40752231-40752240 chr21:40752231-40752245

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40683876..40687631-chr21:40749667..40753921,6	K562	blood:
2	chr21:40716961..40718462-chr21:40751682..40753726,2	K562	blood:
3	chr21:40751768..40752544-chr4:103789675..103790558,3	Hela-S3	cervix:
4	chr21:40750891..40755008-chr21:40755976..40761346,13	MCF-7	breast:
5	21:40686083-40686932..21:40748850-40752541	K562	blood:
6	chr21:40691963..40695047-chr21:40751458..40754017,3	MCF-7	breast:
7	chr21:40683489..40689074-chr21:40750757..40754639,9	MCF-7	breast:
8	chr21:40552640..40555791-chr21:40749339..40752310,3	K562	blood:
9	chr21:40719359..40724848-chr21:40748806..40754741,7	MCF-7	breast:
10	chr21:40749644..40752104-chr21:40816911..40820267,3	MCF-7	breast:
11	21:40712819-40717370..21:40748850-40752541	GM12878	blood:
12	chr21:40750482..40752311-chr21:40817618..40819334,2	K562	blood:
13	chr21:40716662..40723444-chr21:40748337..40754328,16	MCF-7	breast:
14	chr21:40716961..40722807-chr21:40750720..40754894,10	K562	blood:
15	chr21:40750392..40754801-chr21:40757428..40762186,12	MCF-7	breast:
16	21:40718004-40719183..21:40748850-40752541	GM12878	blood:
17	chr21:40719750..40724652-chr21:40748317..40754270,9	K562	blood:
18	chr21:40750855..40754449-chr21:40757264..40761324,13	K562	blood:
19	chr21:40683271..40692626-chr21:40743960..40754349,22	MCF-7	breast:
20	21:40348344-40365490..21:40748850-40752541	Hela-S3	cervix:
21	chr21:40750443..40753981-chr21:40814998..40818130,3	MCF-7	breast:
22	chr21:40750751..40754678-chr21:40755594..40761324,12	K562	blood:

No data

Variant related genes	Relation type
WRB	TF binding region
RNF6P1	TF binding region
ENSG00000238556	Chromatin interaction
ENSG00000157578	Chromatin interaction
ENSG00000232837	Chromatin interaction
ENSG00000252915	Chromatin interaction
ENSG00000183527	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000238141	Chromatin interaction
ENSG00000185437	Chromatin interaction
ENSG00000109332	Chromatin interaction
ENSG00000145354	Chromatin interaction
ENSG00000255568	Chromatin interaction
ENSG00000185658	Chromatin interaction
ENSG00000205581	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 19 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1060180	0.82[CEU][hapmap];0.92[CHB][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10775662	0.88[CEU][hapmap];0.92[CHB][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13051949	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13230	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2063999	0.84[CHB][hapmap]
rs2094874	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2299739	0.84[EUR][1000 genomes]
rs2299741	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2836994	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2836995	1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2836996	1.00[CHB][hapmap]
rs2836998	0.82[CEU][hapmap];0.92[CHB][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2836999	0.82[CEU][hapmap];0.92[CHB][hapmap];0.83[CHD][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2837000	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2837001	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2837002	0.92[CHB][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2837003	0.92[CHB][hapmap]
rs2837004	0.92[CHB][hapmap]
rs2837005	0.82[CEU][hapmap];0.92[CHB][hapmap];0.83[CHD][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2837006	0.82[CEU][hapmap];0.92[CHB][hapmap];0.83[CHD][hapmap];0.84[EUR][1000 genomes]
rs2837007	0.82[CEU][hapmap];0.92[CHB][hapmap];0.83[CHD][hapmap];0.84[EUR][1000 genomes]
rs2837008	0.92[CHB][hapmap];0.89[CHD][hapmap];0.84[EUR][1000 genomes]
rs3787923	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3787924	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4816624	0.84[CHB][hapmap]
rs4818031	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4818032	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4818033	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4818034	0.81[ASN][1000 genomes]
rs6517547	0.88[CEU][hapmap];0.92[CHB][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73364034	0.81[EUR][1000 genomes]
rs8131718	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9305674	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9974263	0.82[ASN][1000 genomes]
rs9974828	0.82[CEU][hapmap];0.92[CHB][hapmap];0.83[CHD][hapmap];0.84[EUR][1000 genomes]
rs9975761	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	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	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1056452	chr21:40741893-40782587	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1063521	chr21:40747754-40790197	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:19)

SNP	Gene	Cis/trans	Tissue	Source
rs2836997	WRB	cis	Skin Sun Exposed Lower leg	GTEx
rs2836997	WRB	cis	Esophagus Muscularis	GTEx
rs2836997	LCA5L	cis	lung	GTEx
rs2836997	WRB	cis	Adipose Subcutaneous	GTEx
rs2836997	LCA5L	cis	Whole Blood	GTEx
rs2836997	SH3BGR	cis	Skin Sun Exposed Lower leg	GTEx
rs2836997	LCA5L	cis	Skin Sun Exposed Lower leg	GTEx
rs2836997	WRB	cis	lung	GTEx
rs2836997	LCA5L	cis	Nerve Tibial	GTEx
rs2836997	WRB	cis	Nerve Tibial	GTEx
rs2836997	LCA5L	cis	Esophagus Mucosa	GTEx
rs2836997	SH3BGR	cis	cerebellum	SCAN
rs2836997	HMGN1	cis	lymphoblastoid	seeQTL
rs2836997	WRB	cis	cerebellum	SCAN
rs2836997	LCA5L	cis	Artery Aorta	GTEx
rs2836997	WRB	cis	Artery Tibial	GTEx
rs2836997	LCA5L	cis	Thyroid	GTEx
rs2836997	WRB	cis	Thyroid	GTEx
rs2836997	WRB	cis	parietal	SCAN

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40746200-40752000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr21:40749600-40752200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr21:40749800-40752000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr21:40751400-40753000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr21:40751600-40752000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr21:40751600-40752000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr21:40751600-40752000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:40751600-40752000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr21:40751600-40752000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr21:40751600-40752000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr21:40751600-40752000	Flanking Active TSS	Brain Anterior Caudate	brain
12	chr21:40751600-40752000	Flanking Active TSS	Fetal Kidney	kidney
13	chr21:40751600-40752000	Weak transcription	Pancreas	Pancrea
14	chr21:40751600-40752000	Flanking Active TSS	Rectal Smooth Muscle	rectum
15	chr21:40751600-40752000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr21:40751600-40752000	Enhancers	Stomach Mucosa	stomach
17	chr21:40751600-40752000	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr21:40751600-40752000	Flanking Active TSS	Dnd41	blood
19	chr21:40751600-40752000	Flanking Active TSS	GM12878-XiMat	blood
20	chr21:40751600-40752000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr21:40751600-40752200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr21:40751600-40752200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr21:40751600-40752200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr21:40751600-40752200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr21:40751600-40752600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr21:40751600-40753000	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr21:40751600-40753000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr21:40751600-40753000	Active TSS	Brain Angular Gyrus	brain
29	chr21:40751600-40753000	Active TSS	Brain Cingulate Gyrus	brain
30	chr21:40751600-40753400	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr21:40751600-40753400	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr21:40751600-40753400	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr21:40751600-40753400	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr21:40751600-40753600	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr21:40751800-40752000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr21:40751800-40752000	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr21:40751800-40752000	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr21:40751800-40752000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr21:40751800-40752000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr21:40751800-40752000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr21:40751800-40752000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr21:40751800-40752000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr21:40751800-40752000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr21:40751800-40752000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr21:40751800-40752000	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr21:40751800-40752000	Flanking Active TSS	Liver	Liver
47	chr21:40751800-40752000	Flanking Active TSS	Colon Smooth Muscle	Colon
48	chr21:40751800-40752000	Active TSS	Fetal Brain Male	brain
49	chr21:40751800-40752000	Flanking Active TSS	Hela-S3	cervix
50	chr21:40751800-40752000	Flanking Active TSS	HMEC	breast

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