Variant report

Variant	rs11911944
Chromosome Location	chr21:40556693-40556694
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr21:40556617-40556741	HepG2	liver:	n/a	n/a
2	POLR2A	chr21:40554678-40556861	GM12878	blood:	n/a	n/a
3	E2F4	chr21:40556586-40557224	MCF10A-Er-Src	breast:	n/a	n/a
4	GATA3	chr21:40556205-40556944	SK-N-SH	brain:	n/a	chr21:40556516-40556524
5	TAL1	chr21:40556658-40556697	K562	blood:	n/a	n/a
6	RFX5	chr21:40556592-40557138	K562	blood:	n/a	n/a
7	TBL1XR1	chr21:40555143-40556999	K562	blood:	n/a	n/a
8	POLR2A	chr21:40554548-40556993	GM12891	blood:	n/a	n/a
9	CUX1	chr21:40556626-40556731	GM12878	blood:	n/a	n/a
10	EP300	chr21:40556640-40556713	GM12878	blood:	n/a	n/a
11	ARID3A	chr21:40556138-40556918	HepG2	liver:	n/a	n/a
12	POLR2A	chr21:40554879-40557680	GM12878	blood:	n/a	n/a
13	GATA3	chr21:40556132-40557186	MCF-7	breast:	n/a	chr21:40556516-40556524
14	GATA3	chr21:40556324-40556964	SH-SY5Y	brain:	n/a	chr21:40556516-40556524
15	SIN3AK20	chr21:40554340-40556881	MCF-7	breast:	n/a	n/a
16	KAP1	chr21:40554796-40556900	HEK293	kidney:	n/a	n/a
17	GATA2	chr21:40556295-40556792	K562	blood:	n/a	n/a
18	CHD1	chr21:40556474-40556902	GM12878	blood:	n/a	n/a
19	ARID3A	chr21:40555289-40556898	K562	blood:	n/a	n/a
20	JUN	chr21:40555201-40556831	K562	blood:	n/a	chr21:40555407-40555416 chr21:40555482-40555491
21	POLR2A	chr21:40554825-40571524	K562	blood:	n/a	n/a
22	MXI1	chr21:40553988-40557071	SK-N-SH	brain:	n/a	chr21:40554025-40554034
23	SMC3	chr21:40556621-40556798	GM12878	blood:	n/a	n/a
24	IRF1	chr21:40555124-40557395	K562	blood:	n/a	chr21:40555524-40555538 chr21:40555918-40555931 chr21:40555918-40555938 chr21:40555450-40555464 chr21:40555811-40555825 chr21:40555418-40555432 chr21:40555402-40555416 chr21:40555855-40555869
25	POLR2A	chr21:40556581-40556808	MCF-7	breast:	n/a	n/a
26	CEBPB	chr21:40556410-40557145	K562	blood:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:40550674..40556725-chr21:40756529..40762932,9	MCF-7	breast:
2	chr21:40552682..40557546-chr21:40815502..40820280,12	K562	blood:
3	chr21:40553821..40557385-chr21:40719764..40724370,6	K562	blood:
4	chr21:40552682..40557091-chr21:40814575..40819975,14	K562	blood:
5	chr21:40554651..40557222-chr21:40599686..40602201,3	K562	blood:
6	chr21:40555615..40557158-chr21:40816762..40818748,2	MCF-7	breast:
7	chr21:40556483..40559803-chr21:40580058..40583280,3	K562	blood:
8	chr21:40554013..40557423-chr21:40684520..40688084,3	MCF-7	breast:
9	chr21:40554955..40557163-chr21:40823681..40826162,2	K562	blood:
10	chr21:40555099..40556872-chr21:40718336..40720047,2	MCF-7	breast:
11	chr21:40554663..40558370-chr21:40719503..40722190,4	MCF-7	breast:
12	chr21:40175328..40180167-chr21:40553641..40558387,7	K562	blood:
13	chr21:40554637..40556936-chr21:40588612..40590641,2	K562	blood:
14	chr21:40553454..40557456-chr21:40682892..40687176,12	K562	blood:
15	chr21:40555032..40557155-chr21:40684133..40685858,2	MCF-7	breast:
16	chr21:40555173..40557304-chr21:40714737..40716613,2	K562	blood:
17	chr21:40551398..40560769-chr21:40565658..40576445,18	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WRB-7	chr21:40556395-40556825	ENSG00000272991.1

No data

Variant related genes	Relation type
PSMG1	TF binding region
ENSG00000185437	Chromatin interaction
ENSG00000205581	Chromatin interaction
ENSG00000157557	Chromatin interaction
ENSG00000252915	Chromatin interaction
ENSG00000185658	Chromatin interaction
ENSG00000157578	Chromatin interaction
ENSG00000238141	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000255568	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11909263	1.00[AFR][1000 genomes]
rs11909837	1.00[AFR][1000 genomes]
rs11910576	0.83[AFR][1000 genomes]
rs11911245	0.83[AFR][1000 genomes]
rs7277870	0.83[AFR][1000 genomes]
rs7279424	0.91[AFR][1000 genomes]
rs7279749	0.87[AFR][1000 genomes]
rs8130185	0.87[AFR][1000 genomes]
rs8132308	0.83[AFR][1000 genomes]
rs8132471	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv3422692	chr21:40554107-40556955	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40553600-40557200	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr21:40553800-40557000	Active TSS	GM12878-XiMat	blood
3	chr21:40554000-40556800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr21:40554000-40557200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr21:40554400-40556800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr21:40554400-40556800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr21:40554400-40556800	Active TSS	Fetal Intestine Large	intestine
8	chr21:40554400-40556800	Active TSS	NHLF	lung
9	chr21:40554400-40557000	Active TSS	HMEC	breast
10	chr21:40554600-40556800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr21:40554600-40556800	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr21:40554600-40556800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr21:40554600-40557000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr21:40554800-40557000	Active TSS	Brain Hippocampus Middle	brain
15	chr21:40554800-40557200	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr21:40555200-40556800	Active TSS	Fetal Brain Male	brain
17	chr21:40555400-40556800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr21:40556000-40556800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr21:40556200-40556800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr21:40556200-40556800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr21:40556200-40556800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr21:40556200-40556800	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr21:40556200-40556800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr21:40556200-40556800	Flanking Active TSS	Osteobl	bone
25	chr21:40556200-40557000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr21:40556200-40557000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr21:40556200-40557000	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr21:40556200-40557000	Flanking Active TSS	Dnd41	blood
29	chr21:40556200-40562600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr21:40556200-40567800	Weak transcription	Left Ventricle	heart
31	chr21:40556200-40568600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr21:40556200-40568800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr21:40556200-40570200	Weak transcription	Stomach Mucosa	stomach
34	chr21:40556200-40570800	Weak transcription	Small Intestine	intestine
35	chr21:40556200-40571000	Weak transcription	Lung	lung
36	chr21:40556200-40571200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr21:40556200-40576600	Weak transcription	Esophagus	oesophagus
38	chr21:40556200-40576600	Weak transcription	Pancreas	Pancrea
39	chr21:40556200-40602600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr21:40556400-40556800	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr21:40556400-40556800	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr21:40556400-40556800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr21:40556400-40556800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr21:40556400-40556800	Flanking Active TSS	Fetal Lung	lung
45	chr21:40556400-40556800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr21:40556400-40556800	Flanking Active TSS	Rectal Smooth Muscle	rectum
47	chr21:40556400-40556800	Flanking Active TSS	Hela-S3	cervix
48	chr21:40556400-40557000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr21:40556400-40557000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr21:40556400-40557000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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