Variant report

Variant	esv3398167
Chromosome Location	chr21:47455589-47455826
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr21:47455541-47457914	IMR90	lung:	n/a	chr21:47456879-47456889
2	RCOR1	chr21:47455806-47457109	IMR90	lung:	n/a	n/a
3	SPI1	chr21:47455546-47455663	K562	blood:	n/a	chr21:47455609-47455622 chr21:47455612-47455621

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47455779-47455829	A549	lung:	n/a
2	chr21:47455779-47455829	GM12891	blood:	n/a
3	chr21:47455779-47455829	LNCaP	prostate:	n/a
4	chr21:47455779-47455829	H1-hESC	embryonic stem cell:	embryo
5	chr21:47455779-47455829	ovcar-3	ovarian:	n/a
6	chr21:47455779-47455829	GM19239	blood:	n/a
7	chr21:47455779-47455829	SK-N-MC	brain:	n/a
8	chr21:47455779-47455829	IMR90	lung:	fetal
9	chr21:47455779-47455829	K562	blood:	n/a
10	chr21:47455779-47455829	HCT-116	colon:	n/a
11	chr21:47455779-47455829	HRPEpiC	eye:	n/a
12	chr21:47455779-47455829	GM06990	blood:	n/a
13	chr21:47455779-47455829	AG09309	skin:	n/a
14	chr21:47455779-47455829	NHBE	bronchial:	n/a
15	chr21:47455779-47455829	NT2-D1	testis:	n/a
16	chr21:47455779-47455829	MCF-7	breast:	n/a
17	chr21:47455779-47455829	Hela-S3	cervix:	n/a
18	chr21:47455779-47455829	AG04450	lung:	fetal
19	chr21:47455779-47455829	ECC-1	luminal epithelium:	n/a
20	chr21:47455779-47455829	U87	brain:	n/a
21	chr21:47455779-47455829	HEK293	kidney:	embryo
22	chr21:47455779-47455829	ProgFib	skin:	n/a
23	chr21:47455779-47455829	GM12878	blood:	n/a
24	chr21:47455779-47455829	HIPEpiC	eye:	n/a
25	chr21:47455779-47455829	HRE	kidney:	n/a
26	chr21:47455779-47455829	NH-A	brain:	n/a
27	chr21:47455779-47455829	Caco-2	colon:	n/a
28	chr21:47455779-47455829	HCM	heart:	n/a
29	chr21:47455779-47455829	SAEC	small airway:	n/a
30	chr21:47455779-47455829	AoSMC	blood vessel:	n/a
31	chr21:47455779-47455829	HCPEpiC	choroid plexus:	n/a
32	chr21:47455779-47455829	HepG2	liver:	n/a
33	chr21:47455779-47455829	RPTEC	kidney:	n/a
34	chr21:47455779-47455829	SK-N-SH	brain:	n/a
35	chr21:47455779-47455829	NB4	blood:	n/a
36	chr21:47455779-47455829	AG04449	skin:	fetal
37	chr21:47455779-47455829	T-47D	breast:	n/a
38	chr21:47455779-47455829	Hepatocyte	liver:	n/a
39	chr21:47455779-47455829	MCF10A-Er-Src	breast:	n/a
40	chr21:47455779-47455829	HUVEC	blood vessel:	n/a
41	chr21:47455779-47455829	GM12892	blood:	n/a
42	chr21:47455779-47455829	PrEC	prostate:	n/a
43	chr21:47455779-47455829	BE2_C	brain:	n/a
44	chr21:47455779-47455829	AG10803	skin:	n/a
45	chr21:47455779-47455829	SK-N-SH_RA	brain:	n/a
46	chr21:47455779-47455829	PANC-1	pancreas:	n/a
47	chr21:47455779-47455829	BJ	skin:	n/a
48	chr21:47455779-47455829	HPAEpiC	pulmonary alveolar:	n/a
49	chr21:47455779-47455829	HAEpiC	amniotic membrane:	n/a
50	chr21:47455779-47455829	AG09319	gingival:	n/a

No data

Variant related genes	Relation type
ENSG00000224413	TF binding region
ENSG00000224413	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2839087	chr21:47455604-47455605	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145342356	chr21:47455619-47455620	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs138027719	chr21:47455629-47455630	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs559067079	chr21:47455635-47455636	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs577419369	chr21:47455675-47455676	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs563874783	chr21:47455705-47455706	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs544242029	chr21:47455768-47455769	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs34395114	chr21:47455776-47455777	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs562944604	chr21:47455785-47455786	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs116282996	chr21:47455815-47455816	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs370836048	chr21:47455823-47455824	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47445600-47458600	Weak transcription	Stomach Mucosa	stomach
2	chr21:47449400-47458400	Weak transcription	Right Atrium	heart
3	chr21:47449600-47455600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr21:47451800-47455600	Weak transcription	Left Ventricle	heart
5	chr21:47451800-47458000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr21:47454000-47455600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr21:47454000-47455600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:47454400-47455600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr21:47455400-47455600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr21:47455400-47455600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr21:47455400-47455600	Enhancers	Fetal Muscle Trunk	muscle
12	chr21:47455400-47455600	Flanking Active TSS	HepG2	liver
13	chr21:47455400-47456200	Enhancers	Rectal Smooth Muscle	rectum
14	chr21:47455400-47456200	Enhancers	Stomach Smooth Muscle	stomach
15	chr21:47455400-47457000	Enhancers	Fetal Intestine Large	intestine
16	chr21:47455400-47457200	Enhancers	Ovary	ovary
17	chr21:47455400-47457800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr21:47455400-47457800	Enhancers	Fetal Lung	lung
19	chr21:47455400-47458000	Enhancers	Fetal Stomach	stomach
20	chr21:47455400-47459200	Enhancers	Placenta	Placenta
21	chr21:47455600-47455800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr21:47455600-47455800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr21:47455600-47456000	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr21:47455600-47456000	Enhancers	Left Ventricle	heart
25	chr21:47455600-47456000	Enhancers	HepG2	liver
26	chr21:47455600-47456200	Enhancers	Spleen	Spleen
27	chr21:47455600-47456400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr21:47455600-47456800	Enhancers	Colonic Mucosa	Colon
29	chr21:47455600-47457000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr21:47455600-47457400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr21:47455600-47457400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr21:47455600-47457400	Enhancers	Fetal Intestine Small	intestine
33	chr21:47455600-47458000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr21:47455600-47458400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr21:47455600-47458800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr21:47455600-47459200	Enhancers	Right Ventricle	heart
37	chr21:47455600-47460000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr21:47455600-47460800	Enhancers	NHDF-Ad	bronchial
39	chr21:47455600-47461200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr21:47455600-47461400	Enhancers	Fetal Muscle Leg	muscle
41	chr21:47455800-47456000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
42	chr21:47455800-47456400	Enhancers	Adipose Nuclei	Adipose
43	chr21:47455800-47456600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr21:47455800-47456600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr21:47455800-47457000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr21:47455800-47457200	Enhancers	NHLF	lung
47	chr21:47455800-47457200	Enhancers	Osteobl	bone

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