Variant report

Variant	rs7283375
Chromosome Location	chr21:40895854-40895855
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr21:40895677-40896380	MCF-7	breast:	n/a	n/a
2	HDAC2	chr21:40895701-40896388	MCF-7	breast:	n/a	n/a
3	MAX	chr21:40895697-40896251	MCF-7	breast:	n/a	n/a
4	HDAC2	chr21:40895712-40896251	MCF-7	breast:	n/a	n/a
5	ZNF217	chr21:40895813-40896259	MCF-7	breast:	n/a	n/a
6	GATA3	chr21:40895565-40896546	MCF-7	breast:	n/a	n/a
7	GATA2	chr21:40895589-40896584	SH-SY5Y	brain:	n/a	n/a
8	EP300	chr21:40895660-40896329	MCF-7	breast:	n/a	n/a
9	GATA3	chr21:40895755-40896431	MCF-7	breast:	n/a	n/a
10	CEBPB	chr21:40895398-40896206	MCF-7	breast:	n/a	n/a
11	SIN3AK20	chr21:40895214-40896652	MCF-7	breast:	n/a	n/a
12	NR2F2	chr21:40895596-40896388	MCF-7	breast:	n/a	n/a
13	GATA3	chr21:40895349-40896424	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:40894588..40897351-chr21:41015543..41018234,2	MCF-7	breast:
2	chr21:40894704..40896899-chr21:40951352..40952979,2	MCF-7	breast:
3	chr21:40891710..40894102-chr21:40894328..40895948,2	MCF-7	breast:
4	chr21:40895232..40897422-chr21:40987219..40990019,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235012	TF binding region

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2837063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7282142	1.00[CEU][hapmap]

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	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
2	nsv1061454	chr21:40757973-41265404	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1062088	chr21:40838027-40919253	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2756754	chr21:40857523-40966156	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv2758820	chr21:40857523-40966156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv34779	chr21:40884871-40977473	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40875800-40898600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr21:40876400-40897400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:40877400-40899600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr21:40880200-40899800	Weak transcription	Fetal Muscle Leg	muscle
5	chr21:40888200-40907400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr21:40890200-40897400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:40894400-40896600	Enhancers	Stomach Mucosa	stomach
8	chr21:40894400-40901600	Enhancers	Pancreas	Pancrea
9	chr21:40894600-40896000	Enhancers	Gastric	stomach
10	chr21:40894600-40896200	Enhancers	Left Ventricle	heart
11	chr21:40894600-40896200	Enhancers	Psoas Muscle	Psoas
12	chr21:40894600-40896200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr21:40894800-40896000	Enhancers	Duodenum Mucosa	Duodenum
14	chr21:40894800-40896200	Enhancers	Aorta	Aorta
15	chr21:40894800-40896200	Enhancers	Right Ventricle	heart
16	chr21:40894800-40897800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr21:40894800-40897800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr21:40895000-40896200	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr21:40895200-40896000	Enhancers	Brain Substantia Nigra	brain
20	chr21:40895200-40896000	Enhancers	Lung	lung
21	chr21:40895200-40896400	Enhancers	Liver	Liver
22	chr21:40895200-40896400	Enhancers	Colon Smooth Muscle	Colon
23	chr21:40895200-40897600	Enhancers	Brain Anterior Caudate	brain
24	chr21:40895400-40896000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr21:40895400-40896000	Enhancers	Rectal Smooth Muscle	rectum
26	chr21:40895400-40896000	Enhancers	Right Atrium	heart
27	chr21:40895400-40896200	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr21:40895400-40896200	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr21:40895600-40896200	Enhancers	Brain Hippocampus Middle	brain
30	chr21:40895600-40896200	Enhancers	Colonic Mucosa	Colon
31	chr21:40895600-40896400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr21:40895600-40897200	Weak transcription	Fetal Brain Female	brain
33	chr21:40895600-40897600	Enhancers	Adipose Nuclei	Adipose
34	chr21:40895600-40899600	Weak transcription	Fetal Stomach	stomach
35	chr21:40895800-40896000	Genic enhancers	Fetal Heart	heart
36	chr21:40895800-40896000	Enhancers	Stomach Smooth Muscle	stomach
37	chr21:40895800-40896200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr21:40895800-40896600	Weak transcription	Fetal Brain Male	brain
39	chr21:40895800-40899600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr21:40895800-40909600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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