Variant report

Variant	rs8133012
Chromosome Location	chr21:16434426-16434427
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr21:16434186-16435332	K562	blood:	n/a	n/a
2	MXI1	chr21:16434320-16434614	GM12878	blood:	n/a	n/a
3	POLR2A	chr21:16434140-16434497	H1-neurons	neurons:	n/a	n/a
4	MAZ	chr21:16434361-16434596	K562	blood:	n/a	n/a
5	TBL1XR1	chr21:16434408-16435291	K562	blood:	n/a	n/a
6	MYC	chr21:16434206-16434685	K562	blood:	n/a	n/a
7	EP300	chr21:16434225-16434540	K562	blood:	n/a	n/a
8	YY1	chr21:16434241-16434532	GM12878	blood:	n/a	chr21:16434422-16434444 chr21:16434425-16434433
9	POLR2A	chr21:16434040-16434638	U87	brain:	n/a	n/a
10	YY1	chr21:16434321-16434540	GM12891	blood:	n/a	chr21:16434422-16434444 chr21:16434425-16434433
11	YY1	chr21:16434320-16434571	GM12878	blood:	n/a	chr21:16434422-16434444 chr21:16434425-16434433
12	POLR2A	chr21:16433055-16438919	MCF-7	breast:	n/a	n/a
13	POLR2A	chr21:16434283-16434610	U87	brain:	n/a	n/a
14	POLR2A	chr21:16433996-16434559	H1-neurons	neurons:	n/a	n/a
15	YY1	chr21:16434185-16434643	GM12878	blood:	n/a	chr21:16434422-16434444 chr21:16434425-16434433
16	GATA1	chr21:16434176-16435653	PBDE	blood:	n/a	chr21:16434233-16434245 chr21:16434235-16434242
17	CCNT2	chr21:16434268-16434545	K562	blood:	n/a	n/a
18	ARID3A	chr21:16434127-16435157	K562	blood:	n/a	chr21:16434401-16434417 chr21:16434402-16434418
19	SIN3AK20	chr21:16434334-16434592	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:16395914..16397790-chr21:16432209..16434496,2	MCF-7	breast:
2	chr21:16245453..16248261-chr21:16433985..16435650,2	MCF-7	breast:
3	chr21:16371454..16373259-chr21:16432960..16434805,2	K562	blood:
4	chr21:15754592..15757287-chr21:16432170..16434965,2	K562	blood:
5	chr21:16379403..16381413-chr21:16433127..16435083,2	MCF-7	breast:
6	chr21:16356082..16358745-chr21:16434038..16436986,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236471	TF binding region
ENSG00000155304	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1041404	0.83[ASN][1000 genomes]
rs13052454	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2026848	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2142216	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2142219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2403873	0.95[ASN][1000 genomes]
rs2823017	0.81[ASN][1000 genomes]
rs2823022	0.81[ASN][1000 genomes]
rs2823026	0.97[EUR][1000 genomes]
rs2823027	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2823029	0.98[ASN][1000 genomes]
rs4356736	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8133792	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9982976	0.82[ASN][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	nsv1060151	chr21:16295713-16435497	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv544378	chr21:16295713-16435497	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv587050	chr21:16413682-16462268	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1059303	chr21:16423727-16466112	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv544379	chr21:16423727-16466112	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr21:16420400-16434800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr21:16422800-16435200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr21:16423600-16435200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr21:16423800-16435200	Weak transcription	Fetal Brain Male	brain
5	chr21:16424400-16435400	Weak transcription	Gastric	stomach
6	chr21:16426600-16434600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr21:16427600-16435200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr21:16427800-16435000	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr21:16428400-16435200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr21:16428800-16435200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr21:16429000-16434800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr21:16429000-16439200	Active TSS	A549	lung
13	chr21:16429800-16435000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr21:16429800-16435000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr21:16429800-16435200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr21:16430000-16435000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr21:16430000-16435200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr21:16430000-16435400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr21:16430000-16435400	Weak transcription	Pancreas	Pancrea
20	chr21:16430000-16436000	Weak transcription	Aorta	Aorta
21	chr21:16430000-16436000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr21:16430200-16435400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr21:16430400-16435400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr21:16430600-16435000	Weak transcription	Fetal Stomach	stomach
25	chr21:16431400-16435400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr21:16431600-16434600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr21:16431600-16434600	Weak transcription	Brain Anterior Caudate	brain
28	chr21:16431600-16434800	Enhancers	Primary T cells from cord blood	blood
29	chr21:16431600-16434800	Weak transcription	Brain Germinal Matrix	brain
30	chr21:16431600-16435200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr21:16432000-16435200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr21:16432400-16434800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr21:16432400-16435000	Enhancers	Colon Smooth Muscle	Colon
34	chr21:16432400-16435600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr21:16432600-16434600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr21:16432600-16435000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr21:16432600-16436000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr21:16432800-16435200	Enhancers	Brain Angular Gyrus	brain
39	chr21:16432800-16435400	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr21:16432800-16435400	Enhancers	Primary B cells from peripheral blood	blood
41	chr21:16432800-16435400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr21:16432800-16439000	Active TSS	GM12878-XiMat	blood
43	chr21:16433000-16434600	Enhancers	H1 Cell Line	embryonic stem cell
44	chr21:16433000-16434600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr21:16433000-16435200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr21:16433000-16435200	Enhancers	Fetal Lung	lung
47	chr21:16433000-16435200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr21:16433000-16435600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr21:16433000-16435800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr21:16433000-16439200	Active TSS	Right Atrium	heart

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