Variant report

Variant	rs73906582
Chromosome Location	chr21:44884628-44884629
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

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	E2F6	chr21:44884440-44884946	A549	lung:	n/a	n/a
3	EP300	chr21:44884573-44885535	HepG2	liver:	n/a	n/a
4	SP1	chr21:44884621-44885495	A549	lung:	n/a	n/a
5	FOSL2	chr21:44884503-44885342	HepG2	liver:	n/a	chr21:44884737-44884748 chr21:44884744-44884752
6	MAX	chr21:44884386-44885600	HepG2	liver:	n/a	n/a
7	RCOR1	chr21:44884608-44885281	HepG2	liver:	n/a	n/a
8	MYBL2	chr21:44884523-44885490	HepG2	liver:	n/a	n/a
9	TCF3	chr21:44884545-44884837	GM12878	blood:	n/a	n/a
10	EP300	chr21:44884588-44885516	HepG2	liver:	n/a	n/a
11	FOSL2	chr21:44884509-44884971	A549	lung:	n/a	chr21:44884737-44884748 chr21:44884744-44884752
12	POLR2A	chr21:44884616-44884801	Hela-S3	cervix:	n/a	n/a
13	MBD4	chr21:44884540-44885510	HepG2	liver:	n/a	n/a
14	POLR2A	chr21:44884514-44885443	HepG2	liver:	n/a	n/a
15	MAX	chr21:44884477-44885355	HepG2	liver:	n/a	n/a
16	FOXA2	chr21:44884578-44885220	A549	lung:	n/a	n/a
17	FOXA1	chr21:44884618-44885362	HepG2	liver:	n/a	n/a
18	CREB1	chr21:44884582-44885517	HepG2	liver:	n/a	n/a
19	MAX	chr21:44884436-44885313	A549	lung:	n/a	n/a
20	MAX	chr21:44884567-44884961	A549	lung:	n/a	n/a
21	SPI1	chr21:44884372-44884773	HL-60	blood:	n/a	n/a
22	TCF12	chr21:44884583-44885606	A549	lung:	n/a	n/a
23	MAX	chr21:44884554-44884840	A549	lung:	n/a	n/a
24	TEAD4	chr21:44884610-44885508	HepG2	liver:	n/a	n/a
25	NFIC	chr21:44884599-44885460	HepG2	liver:	n/a	n/a
26	MBD4	chr21:44884507-44885525	HepG2	liver:	n/a	n/a
27	NFIC	chr21:44884616-44885412	HepG2	liver:	n/a	n/a
28	CHD2	chr21:44884625-44885318	HepG2	liver:	n/a	n/a
29	PPARGC1A	chr21:44884575-44885395	HepG2	liver:	n/a	n/a

No data

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

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

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SIK1-4	chr21:44884472-44884696	XLOC_014105

No data

Variant related genes	Relation type
ENSG00000223975	TF binding region
ENSG00000185186	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs57139820	1.00[AMR][1000 genomes]
rs73906577	0.81[AFR][1000 genomes]
rs73906578	0.81[AFR][1000 genomes]
rs73906583	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73906584	0.96[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:40 , 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	chr21:44880200-44885000	Enhancers	Lung	lung
6	chr21:44880200-44885600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr21:44880400-44884800	Enhancers	Fetal Stomach	stomach
8	chr21:44880600-44890800	Enhancers	HepG2	liver
9	chr21:44881000-44885600	Enhancers	Pancreas	Pancrea
10	chr21:44881800-44885000	ZNF genes & repeats	Fetal Intestine Large	intestine
11	chr21:44882200-44886400	Enhancers	Liver	Liver
12	chr21:44882600-44891200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr21:44882800-44885000	ZNF genes & repeats	Fetal Intestine Small	intestine
14	chr21:44882800-44887600	Enhancers	Placenta	Placenta
15	chr21:44883000-44885400	Enhancers	Adipose Nuclei	Adipose
16	chr21:44883400-44884800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr21:44883400-44885000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr21:44883400-44889800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr21:44883600-44884800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr21:44883600-44885200	Enhancers	NH-A	brain
21	chr21:44883800-44884800	Enhancers	Gastric	stomach
22	chr21:44883800-44886800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr21:44884000-44884800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr21:44884000-44886400	Enhancers	Stomach Mucosa	stomach
25	chr21:44884000-44888200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr21:44884000-44889000	Weak transcription	Esophagus	oesophagus
27	chr21:44884000-44891000	Weak transcription	Psoas Muscle	Psoas
28	chr21:44884200-44887200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr21:44884200-44888800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr21:44884400-44886200	Weak transcription	HSMM	muscle
31	chr21:44884400-44886400	Weak transcription	Osteobl	bone
32	chr21:44884400-44887600	Weak transcription	Right Atrium	heart
33	chr21:44884600-44884800	Enhancers	Ovary	ovary
34	chr21:44884600-44884800	Flanking Active TSS	A549	lung
35	chr21:44884600-44885000	Weak transcription	Hela-S3	cervix
36	chr21:44884600-44885400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr21:44884600-44886200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr21:44884600-44886200	Weak transcription	HSMMtube	muscle
39	chr21:44884600-44886600	Weak transcription	Spleen	Spleen
40	chr21:44884600-44886800	Weak transcription	Fetal Lung	lung

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