Variant report

Variant	esv3375056
Chromosome Location	chr21:47422374-47424872
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:306)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr21:47424240-47424390	K562	blood:	n/a	n/a
2	ELF1	chr21:47422688-47423052	K562	blood:	n/a	chr21:47422922-47422931 chr21:47422921-47422932
3	ESR1	chr21:47422142-47422628	ECC-1	luminal epithelium:	n/a	n/a
4	ESR1	chr21:47422124-47422536	ECC-1	luminal epithelium:	n/a	n/a
5	ESR1	chr21:47422099-47422655	ECC-1	luminal epithelium:	n/a	n/a
6	ESR1	chr21:47422117-47422631	ECC-1	luminal epithelium:	n/a	n/a
7	GABPA	chr21:47422748-47423085	K562	blood:	n/a	n/a
8	MYC	chr21:47423282-47423367	MCF-7	breast:	n/a	n/a
9	POLR2A	chr21:47423221-47423272	ProgFib	skin:	n/a	n/a
10	POLR2A	chr21:47424321-47425899	U87	brain:	n/a	n/a
11	POLR2A	chr21:47422825-47423188	U87	brain:	n/a	n/a
12	POLR2A	chr21:47423614-47423625	ProgFib	skin:	n/a	n/a
13	POLR2A	chr21:47424304-47425905	U87	brain:	n/a	n/a
14	POLR2A	chr21:47423687-47424248	U87	brain:	n/a	n/a
15	POLR2A	chr21:47422175-47422536	ProgFib	skin:	n/a	n/a
16	POLR2A	chr21:47423570-47423602	ProgFib	skin:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47422537-47422587	AG04450	lung:	fetal
2	chr21:47422537-47422587	AG04450	lung:	fetal
3	chr21:47423882-47423932	GM06990	blood:	n/a
4	chr21:47424543-47424593	NHDF-neo	bronchial:	n/a
5	chr21:47424543-47424593	HAEpiC	amniotic membrane:	n/a
6	chr21:47423639-47423689	CMK	blood:	n/a
7	chr21:47423074-47423124	AG04449	skin:	fetal
8	chr21:47422537-47422587	K562	blood:	n/a
9	chr21:47423639-47423689	AoSMC	blood vessel:	n/a
10	chr21:47422537-47422587	AoSMC	blood vessel:	n/a
11	chr21:47422537-47422587	HUVEC	blood vessel:	n/a
12	chr21:47423882-47423932	HIPEpiC	eye:	n/a
13	chr21:47423639-47423689	Hela-S3	cervix:	n/a
14	chr21:47423639-47423689	BJ	skin:	n/a
15	chr21:47424543-47424593	HRE	kidney:	n/a
16	chr21:47422537-47422587	SK-N-SH	brain:	n/a
17	chr21:47422537-47422587	HAEpiC	amniotic membrane:	n/a
18	chr21:47422537-47422587	HCF	heart:	n/a
19	chr21:47424543-47424593	Caco-2	colon:	n/a
20	chr21:47423639-47423689	SAEC	small airway:	n/a
21	chr21:47423639-47423689	BE2_C	brain:	n/a
22	chr21:47423074-47423124	IMR90	lung:	fetal
23	chr21:47424543-47424593	CMK	blood:	n/a
24	chr21:47423882-47423932	AG09319	gingival:	n/a
25	chr21:47423639-47423689	LNCaP	prostate:	n/a
26	chr21:47422537-47422587	NHBE	bronchial:	n/a
27	chr21:47424543-47424593	HCM	heart:	n/a
28	chr21:47423882-47423932	PANC-1	pancreas:	n/a
29	chr21:47423882-47423932	HCT-116	colon:	n/a
30	chr21:47423882-47423932	HRE	kidney:	n/a
31	chr21:47423639-47423689	HCM	heart:	n/a
32	chr21:47423639-47423689	HRPEpiC	eye:	n/a
33	chr21:47423639-47423689	PrEC	prostate:	n/a
34	chr21:47424543-47424593	HCT-116	colon:	n/a
35	chr21:47424543-47424593	H1-hESC	embryonic stem cell:	embryo
36	chr21:47423882-47423932	PFSK-1	brain:	n/a
37	chr21:47422537-47422587	HPAEpiC	pulmonary alveolar:	n/a
38	chr21:47422537-47422587	HIPEpiC	eye:	n/a
39	chr21:47423074-47423124	BE2_C	brain:	n/a
40	chr21:47423882-47423932	SK-N-SH	brain:	n/a
41	chr21:47422537-47422587	GM12878	blood:	n/a
42	chr21:47423074-47423124	PANC-1	pancreas:	n/a
43	chr21:47422537-47422587	RPTEC	kidney:	n/a
44	chr21:47424543-47424593	HRPEpiC	eye:	n/a
45	chr21:47422537-47422587	Hepatocyte	liver:	n/a
46	chr21:47422537-47422587	Hela-S3	cervix:	n/a
47	chr21:47423882-47423932	K562	blood:	n/a
48	chr21:47423639-47423689	HIPEpiC	eye:	n/a
49	chr21:47423074-47423124	NHBE	bronchial:	n/a
50	chr21:47422537-47422587	PFSK-1	brain:	n/a

No data

Variant related genes	Relation type
COL6A1	TF binding region
COL6A1	CpG island

Extended variants
information (count: 243 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528302683	chr21:47422381-47422382	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs147940239	chr21:47422394-47422395	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs559827647	chr21:47422395-47422396	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs35796750	chr21:47422412-47422413	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs374690337	chr21:47422413-47422414	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs369894106	chr21:47422421-47422422	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs150780079	chr21:47422464-47422465	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs373383488	chr21:47422465-47422466	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs376567898	chr21:47422494-47422495	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs139135164	chr21:47422502-47422503	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs569738255	chr21:47422526-47422527	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs200261890	chr21:47422538-47422539	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs373511343	chr21:47422539-47422540	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs377558756	chr21:47422542-47422543	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs370546340	chr21:47422543-47422544	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs149910296	chr21:47422545-47422546	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs143925936	chr21:47422609-47422610	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs140547835	chr21:47422614-47422615	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs202147670	chr21:47422628-47422629	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs2236485	chr21:47422639-47422640	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs375459677	chr21:47422641-47422642	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs376294266	chr21:47422642-47422643	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs571644858	chr21:47422643-47422644	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs2236486	chr21:47422644-47422645	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs537371836	chr21:47422661-47422662	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs374202763	chr21:47422668-47422669	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs538370155	chr21:47422669-47422670	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs556965609	chr21:47422670-47422671	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs2236487	chr21:47422679-47422680	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs374606098	chr21:47422682-47422683	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs201192461	chr21:47422684-47422685	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs561205670	chr21:47422700-47422701	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs573055620	chr21:47422706-47422707	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs113707678	chr21:47422709-47422710	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs540457042	chr21:47422711-47422712	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs2236488	chr21:47422712-47422713	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs533439660	chr21:47422718-47422719	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs551587707	chr21:47422719-47422720	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs563303146	chr21:47422740-47422741	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs148827769	chr21:47422741-47422742	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs549263258	chr21:47422749-47422750	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs111675559	chr21:47422752-47422753	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs567645416	chr21:47422753-47422754	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs538878771	chr21:47422759-47422760	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs546812578	chr21:47422763-47422764	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs186102592	chr21:47422768-47422769	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs558750188	chr21:47422769-47422770	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs571769096	chr21:47422781-47422782	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs538677837	chr21:47422792-47422793	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs557099967	chr21:47422798-47422799	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47403200-47424600	Weak transcription	Small Intestine	intestine
2	chr21:47403200-47425000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr21:47404000-47424200	Strong transcription	H1 Cell Line	embryonic stem cell
4	chr21:47404000-47424600	Strong transcription	Aorta	Aorta
5	chr21:47404200-47425200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr21:47404200-47425200	Strong transcription	Muscle Satellite Cultured Cells	--
7	chr21:47405000-47423800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr21:47405000-47425400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr21:47405200-47425400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr21:47405200-47425400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
11	chr21:47405200-47425800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr21:47405400-47423800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr21:47405400-47424800	Strong transcription	Fetal Brain Female	brain
14	chr21:47405400-47425200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr21:47405600-47423000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr21:47406600-47425400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr21:47407600-47425000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr21:47408400-47425800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr21:47409000-47425200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr21:47409200-47425000	Strong transcription	Ovary	ovary
21	chr21:47409800-47426600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr21:47410000-47422600	Weak transcription	Liver	Liver
23	chr21:47411200-47432800	Weak transcription	Right Atrium	heart
24	chr21:47412400-47423000	Strong transcription	Colonic Mucosa	Colon
25	chr21:47412400-47426400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr21:47412600-47422400	Weak transcription	Brain Hippocampus Middle	brain
27	chr21:47412600-47425800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr21:47413800-47425200	Strong transcription	NHLF	lung
29	chr21:47414200-47424800	Strong transcription	Right Ventricle	heart
30	chr21:47414800-47425200	Strong transcription	Osteobl	bone
31	chr21:47415200-47425200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr21:47415400-47423400	Weak transcription	HSMM	muscle
33	chr21:47415400-47424600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr21:47415400-47424600	Strong transcription	Adipose Nuclei	Adipose
35	chr21:47415400-47425000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr21:47415400-47425000	Weak transcription	Brain Anterior Caudate	brain
37	chr21:47415600-47425400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr21:47416000-47425400	Strong transcription	Fetal Intestine Small	intestine
39	chr21:47416200-47422800	Strong transcription	Colon Smooth Muscle	Colon
40	chr21:47416200-47425200	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr21:47416400-47425200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr21:47416400-47425400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr21:47416400-47425800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr21:47416600-47425600	Weak transcription	Pancreas	Pancrea
45	chr21:47416800-47425200	Strong transcription	Stomach Smooth Muscle	stomach
46	chr21:47417000-47423400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr21:47417400-47424600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr21:47418400-47425000	ZNF genes & repeats	Fetal Intestine Large	intestine
49	chr21:47419000-47425200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr21:47419400-47426600	Weak transcription	NH-A	brain

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