Variant report

Variant	rs8132169
Chromosome Location	chr21:40033217-40033218
allele	C/G
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	POLR2A	chr21:40033052-40033677	H1-neurons	neurons:	n/a	n/a
2	E2F6	chr21:40032297-40033764	H1-hESC	embryonic stem cell:	n/a	chr21:40032692-40032701 chr21:40032506-40032515
3	CEBPB	chr21:40033139-40033386	IMR90	lung:	n/a	n/a
4	SUZ12	chr21:40031839-40033787	NT2-D1	testis:	n/a	n/a
5	CEBPB	chr21:40033087-40033424	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr21:40033154-40033521	ECC-1	luminal epithelium:	n/a	chr21:40033420-40033427
7	POLR2A	chr21:40032902-40033619	H1-neurons	neurons:	n/a	n/a
8	MAX	chr21:40033136-40033674	A549	lung:	n/a	chr21:40033420-40033427
9	CTBP2	chr21:40032103-40033755	H1-hESC	embryonic stem cell:	n/a	n/a
10	HA-E2F1	chr21:40032583-40033554	MCF-7	breast:	n/a	chr21:40032692-40032701
11	MAX	chr21:40033144-40033556	H1-hESC	embryonic stem cell:	n/a	chr21:40033420-40033427
12	CEBPB	chr21:40033114-40033338	HepG2	liver:	n/a	n/a
13	TBP	chr21:40033191-40033676	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr21:40032251-40033696	H1-hESC	embryonic stem cell:	n/a	chr21:40033420-40033427 chr21:40032425-40032434
15	ZNF263	chr21:40032382-40033668	HEK293-T-REx	kidney:	n/a	chr21:40032920-40032941 chr21:40033351-40033360
16	MAX	chr21:40032486-40033693	MCF-7	breast:	n/a	chr21:40033420-40033427
17	MAX	chr21:40032780-40033689	H1-hESC	embryonic stem cell:	n/a	chr21:40033420-40033427
18	E2F6	chr21:40032301-40033673	H1-hESC	embryonic stem cell:	n/a	chr21:40032692-40032701 chr21:40032506-40032515

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40032723..40034705-chr21:40552796..40555245,2	MCF-7	breast:

Variant related genes	Relation type
ERG	TF binding region
ENSG00000183527	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1015748	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs462365	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs463166	1.00[EUR][1000 genomes]
rs463763	1.00[CEU][hapmap]
rs57208731	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57446125	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3398749	chr21:40030382-40034780	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3440316	chr21:40031607-40034455	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40028800-40034400	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr21:40029800-40034600	Active TSS	Aorta	Aorta
3	chr21:40031200-40034400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:40031400-40033800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr21:40031800-40033600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
6	chr21:40031800-40034000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr21:40031800-40034000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
8	chr21:40031800-40034000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
9	chr21:40031800-40034200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr21:40032000-40033600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr21:40032000-40033800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr21:40032000-40033800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr21:40032000-40033800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
14	chr21:40032000-40034000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr21:40032000-40034000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr21:40032200-40033400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr21:40032200-40033400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr21:40032200-40033400	Active TSS	Right Atrium	heart
19	chr21:40032200-40033600	Bivalent Enhancer	Fetal Brain Male	brain
20	chr21:40032200-40033600	Flanking Bivalent TSS/Enh	HMEC	breast
21	chr21:40032200-40033800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
22	chr21:40032200-40033800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr21:40032200-40033800	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr21:40032200-40034200	Active TSS	Ovary	ovary
25	chr21:40032400-40033400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr21:40032400-40033400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr21:40032400-40033400	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr21:40032400-40033400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr21:40032400-40033400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr21:40032400-40033400	Bivalent/Poised TSS	Fetal Brain Female	brain
31	chr21:40032400-40033600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr21:40032400-40033600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
33	chr21:40032400-40033600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr21:40032400-40033600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
35	chr21:40032400-40033600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
36	chr21:40032400-40033600	Bivalent/Poised TSS	Psoas Muscle	Psoas
37	chr21:40032400-40033800	Active TSS	H9 Cell Line	embryonic stem cell
38	chr21:40032400-40033800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr21:40032400-40033800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr21:40032400-40033800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr21:40032400-40033800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr21:40032400-40033800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
43	chr21:40032400-40033800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr21:40032400-40034000	Bivalent/Poised TSS	NHEK	skin
45	chr21:40032600-40033400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr21:40032600-40033400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
47	chr21:40032600-40033400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr21:40032600-40033400	Active TSS	Colonic Mucosa	Colon
49	chr21:40032600-40033400	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr21:40032600-40033400	Flanking Active TSS	Spleen	Spleen

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