Variant report

Variant	esv3430324
Chromosome Location	chr21:47488179-47489111
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 130 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73908156	chr21:47488182-47488183	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs150521567	chr21:47488188-47488189	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs531388424	chr21:47488260-47488261	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs571697042	chr21:47488264-47488265	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs189034563	chr21:47488274-47488275	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs527667562	chr21:47488276-47488277	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs567947131	chr21:47488287-47488288	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs528910024	chr21:47488303-47488304	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs16978810	chr21:47488332-47488333	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
10	rs139437292	chr21:47488336-47488337	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs149273076	chr21:47488359-47488360	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs181266499	chr21:47488364-47488365	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs9978582	chr21:47488387-47488388	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs185578075	chr21:47488389-47488390	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs537916477	chr21:47488393-47488394	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs556654241	chr21:47488402-47488403	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147368881	chr21:47488435-47488436	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535892380	chr21:47488436-47488437	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554499738	chr21:47488452-47488453	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572736651	chr21:47488454-47488455	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77199629	chr21:47488455-47488456	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113815248	chr21:47488457-47488458	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs398061803	chr21:47488467-47488468	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28510517	chr21:47488471-47488472	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28470967	chr21:47488472-47488473	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72308683	chr21:47488473-47488474	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546523597	chr21:47488485-47488486	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564642891	chr21:47488486-47488487	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28688249	chr21:47488490-47488491	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543127600	chr21:47488493-47488494	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs151145518	chr21:47488504-47488505	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561865939	chr21:47488512-47488513	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28716433	chr21:47488526-47488527	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373036851	chr21:47488540-47488541	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113881907	chr21:47488542-47488543	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558719469	chr21:47488545-47488546	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547326705	chr21:47488547-47488548	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72028846	chr21:47488558-47488559	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115709542	chr21:47488567-47488568	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116157727	chr21:47488569-47488570	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145407103	chr21:47488577-47488578	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28412410	chr21:47488579-47488580	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76660537	chr21:47488585-47488586	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13052100	chr21:47488626-47488627	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs144911205	chr21:47488642-47488643	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115327597	chr21:47488649-47488650	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115947967	chr21:47488650-47488651	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199945106	chr21:47488651-47488652	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114426529	chr21:47488653-47488654	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115178887	chr21:47488654-47488655	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47483000-47488400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:47483800-47488600	Enhancers	Fetal Muscle Leg	muscle
3	chr21:47484000-47488400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
4	chr21:47484000-47488400	Enhancers	Placenta	Placenta
5	chr21:47484200-47488200	Enhancers	Rectal Smooth Muscle	rectum
6	chr21:47484800-47488200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr21:47484800-47488600	Enhancers	Fetal Stomach	stomach
8	chr21:47484800-47488800	Enhancers	Ovary	ovary
9	chr21:47484800-47489400	Enhancers	Fetal Lung	lung
10	chr21:47485000-47488600	Enhancers	Right Ventricle	heart
11	chr21:47485200-47517400	Weak transcription	Right Atrium	heart
12	chr21:47485400-47488400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr21:47485800-47488800	Enhancers	Fetal Heart	heart
14	chr21:47486000-47488200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr21:47486000-47488200	Enhancers	Fetal Thymus	thymus
16	chr21:47486000-47488400	Enhancers	Esophagus	oesophagus
17	chr21:47486000-47488600	Enhancers	Adipose Nuclei	Adipose
18	chr21:47486200-47488400	Enhancers	Duodenum Mucosa	Duodenum
19	chr21:47486600-47488200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
20	chr21:47486800-47488200	Enhancers	Colon Smooth Muscle	Colon
21	chr21:47487000-47488400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr21:47487200-47488600	Enhancers	NHDF-Ad	bronchial
23	chr21:47487600-47488200	Weak transcription	Pancreas	Pancrea
24	chr21:47487600-47488400	Enhancers	Lung	lung
25	chr21:47487600-47489000	Weak transcription	Fetal Kidney	kidney
26	chr21:47487600-47489400	Enhancers	Spleen	Spleen
27	chr21:47487800-47488200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr21:47487800-47488400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr21:47487800-47488600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr21:47487800-47489800	Enhancers	Stomach Smooth Muscle	stomach
31	chr21:47488000-47489400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr21:47488000-47492000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr21:47488000-47492200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr21:47488000-47498000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr21:47488200-47489600	Enhancers	Pancreas	Pancrea
36	chr21:47488200-47490600	Enhancers	Fetal Muscle Trunk	muscle
37	chr21:47488400-47488800	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr21:47488400-47488800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr21:47488400-47489000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr21:47488400-47489400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr21:47488400-47489600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr21:47488600-47489600	Weak transcription	Fetal Muscle Leg	muscle
43	chr21:47488600-47497600	Weak transcription	NHDF-Ad	bronchial
44	chr21:47488800-47489200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr21:47488800-47489400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
46	chr21:47488800-47489800	Weak transcription	Ovary	ovary
47	chr21:47489000-47489200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr21:47489000-47489200	Enhancers	Fetal Kidney	kidney
49	chr21:47489000-47489400	Enhancers	Gastric	stomach
50	chr21:47489000-47489600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell

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