Variant report

Variant	rs73906583
Chromosome Location	chr21:44885301-44885302
allele	A/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	NR2F2	chr21:44884412-44885690	HepG2	liver:	n/a	n/a
2	CEBPB	chr21:44884733-44885445	HepG2	liver:	n/a	n/a
3	REST	chr21:44884974-44885312	HepG2	liver:	n/a	n/a
4	POLR2A	chr21:44884708-44885519	HepG2	liver:	n/a	n/a
5	JUN	chr21:44884987-44885302	HepG2	liver:	n/a	n/a
6	TEAD4	chr21:44884948-44885357	HepG2	liver:	n/a	n/a
7	CEBPD	chr21:44884846-44885375	HepG2	liver:	n/a	n/a
8	FOXA1	chr21:44884642-44885357	HepG2	liver:	n/a	n/a
9	SP1	chr21:44884756-44885375	A549	lung:	n/a	n/a
10	NR3C1	chr21:44884825-44885366	A549	lung:	n/a	n/a
11	EP300	chr21:44884573-44885535	HepG2	liver:	n/a	n/a
12	SP1	chr21:44884621-44885495	A549	lung:	n/a	n/a
13	CEBPD	chr21:44884635-44885431	HepG2	liver:	n/a	n/a
14	HNF4A	chr21:44884722-44885358	HepG2	liver:	n/a	chr21:44885054-44885069
15	FOSL2	chr21:44884503-44885342	HepG2	liver:	n/a	chr21:44884737-44884748 chr21:44884744-44884752
16	MAX	chr21:44884386-44885600	HepG2	liver:	n/a	n/a
17	EP300	chr21:44884801-44885524	A549	lung:	n/a	n/a
18	RXRA	chr21:44884722-44885521	HepG2	liver:	n/a	n/a
19	FOXA1	chr21:44884705-44885404	HepG2	liver:	n/a	n/a
20	BCL3	chr21:44884930-44885433	A549	lung:	n/a	n/a
21	MYBL2	chr21:44884523-44885490	HepG2	liver:	n/a	n/a
22	HDAC2	chr21:44884759-44885422	HepG2	liver:	n/a	n/a
23	RAD21	chr21:44884695-44885462	HepG2	liver:	n/a	n/a
24	MYBL2	chr21:44884643-44885471	HepG2	liver:	n/a	n/a
25	EP300	chr21:44885009-44885388	Hela-S3	cervix:	n/a	n/a
26	EP300	chr21:44884699-44885562	A549	lung:	n/a	n/a
27	HNF4A	chr21:44884728-44885385	HepG2	liver:	n/a	chr21:44885054-44885069
28	SP1	chr21:44884668-44885445	HepG2	liver:	n/a	n/a
29	EP300	chr21:44884588-44885516	HepG2	liver:	n/a	n/a
30	HDAC2	chr21:44884778-44885488	HepG2	liver:	n/a	n/a
31	TCF7L2	chr21:44884792-44885451	HepG2	liver:	n/a	n/a
32	MBD4	chr21:44884540-44885510	HepG2	liver:	n/a	n/a
33	MAFK	chr21:44884698-44885342	HepG2	liver:	n/a	chr21:44884731-44884741
34	POLR2A	chr21:44885181-44885337	HepG2	liver:	n/a	n/a
35	NR2F2	chr21:44884638-44885477	HepG2	liver:	n/a	n/a
36	FOSL2	chr21:44884675-44885333	HepG2	liver:	n/a	chr21:44884737-44884748 chr21:44884744-44884752
37	POLR2A	chr21:44884514-44885443	HepG2	liver:	n/a	n/a
38	FOXA2	chr21:44884704-44885326	HepG2	liver:	n/a	n/a
39	HNF4G	chr21:44884722-44885382	HepG2	liver:	n/a	chr21:44885055-44885070
40	HNF4A	chr21:44884787-44885388	HepG2	liver:	n/a	chr21:44885054-44885069
41	ARID3A	chr21:44884811-44885466	HepG2	liver:	n/a	n/a
42	MAX	chr21:44884477-44885355	HepG2	liver:	n/a	n/a
43	RAD21	chr21:44884728-44885370	HepG2	liver:	n/a	n/a
44	JUND	chr21:44884677-44885375	HepG2	liver:	n/a	chr21:44884737-44884748 chr21:44884744-44884752
45	CEBPB	chr21:44884936-44885419	A549	lung:	n/a	n/a
46	CEBPB	chr21:44884832-44885479	A549	lung:	n/a	n/a
47	FOXA1	chr21:44884618-44885362	HepG2	liver:	n/a	n/a
48	CEBPB	chr21:44885111-44885304	IMR90	lung:	n/a	n/a
49	CREB1	chr21:44884582-44885517	HepG2	liver:	n/a	n/a
50	MAX	chr21:44884436-44885313	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:44883152..44886989-chr21:44891173..44894639,3	K562	blood:

Variant related genes	Relation type
LINC00313	TF binding region
ENSG00000185186	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs57139820	1.00[AMR][1000 genomes]
rs73906582	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73906584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8129901	0.87[AMR][1000 genomes]
rs8132088	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
3	nsv1057726	chr21:44711850-44957303	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	nsv544466	chr21:44711850-44957303	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv913838	chr21:44740134-44931821	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
6	nsv913839	chr21:44750200-44931821	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
7	nsv913847	chr21:44792003-44931821	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
8	nsv913849	chr21:44817248-44925334	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
9	nsv913852	chr21:44829087-44925334	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
10	nsv913860	chr21:44831981-44925334	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
11	nsv913867	chr21:44835508-44925334	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
12	nsv913868	chr21:44835508-44954522	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
13	nsv913872	chr21:44860542-44925334	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
14	esv1839560	chr21:44864079-44973184	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
15	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
16	nsv587689	chr21:44884252-44986050	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44877600-44886000	Weak transcription	Brain Anterior Caudate	brain
2	chr21:44878800-44886400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr21:44879000-44889200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr21:44879400-44889400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr21:44880200-44885600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr21:44880600-44890800	Enhancers	HepG2	liver
7	chr21:44881000-44885600	Enhancers	Pancreas	Pancrea
8	chr21:44882200-44886400	Enhancers	Liver	Liver
9	chr21:44882600-44891200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr21:44882800-44887600	Enhancers	Placenta	Placenta
11	chr21:44883000-44885400	Enhancers	Adipose Nuclei	Adipose
12	chr21:44883400-44889800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr21:44883800-44886800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr21:44884000-44886400	Enhancers	Stomach Mucosa	stomach
15	chr21:44884000-44888200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr21:44884000-44889000	Weak transcription	Esophagus	oesophagus
17	chr21:44884000-44891000	Weak transcription	Psoas Muscle	Psoas
18	chr21:44884200-44887200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr21:44884200-44888800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr21:44884400-44886200	Weak transcription	HSMM	muscle
21	chr21:44884400-44886400	Weak transcription	Osteobl	bone
22	chr21:44884400-44887600	Weak transcription	Right Atrium	heart
23	chr21:44884600-44885400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr21:44884600-44886200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr21:44884600-44886200	Weak transcription	HSMMtube	muscle
26	chr21:44884600-44886600	Weak transcription	Spleen	Spleen
27	chr21:44884600-44886800	Weak transcription	Fetal Lung	lung
28	chr21:44884800-44885600	Enhancers	A549	lung
29	chr21:44884800-44886200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr21:44884800-44887600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr21:44884800-44887800	Weak transcription	Gastric	stomach
32	chr21:44884800-44890800	Weak transcription	Fetal Stomach	stomach
33	chr21:44885000-44885600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr21:44885000-44885600	Enhancers	Hela-S3	cervix
35	chr21:44885000-44886000	Weak transcription	Lung	lung
36	chr21:44885200-44886400	Enhancers	Fetal Intestine Large	intestine
37	chr21:44885200-44886400	Enhancers	Fetal Intestine Small	intestine
38	chr21:44885200-44886600	Weak transcription	NH-A	brain

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