Variant report

Variant	esv3442739
Chromosome Location	chr21:15428606-15431454
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 161 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540230193	chr21:15428620-15428621	Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs560588740	chr21:15428632-15428633	Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs529563133	chr21:15428658-15428659	Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs549144426	chr21:15428672-15428673	Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs569141205	chr21:15428690-15428691	Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs148470751	chr21:15428695-15428696	Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs531690615	chr21:15428701-15428702	Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs67423764	chr21:15428703-15428704	Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs62209906	chr21:15428716-15428717	Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs571724353	chr21:15428752-15428753	Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs533908367	chr21:15428761-15428762	Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs554161869	chr21:15428794-15428795	Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs566633284	chr21:15428842-15428843	Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs535785869	chr21:15428848-15428849	Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs143586789	chr21:15428934-15428935	Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs575554858	chr21:15428949-15428950	Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs549141310	chr21:15428952-15428953	Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs148056931	chr21:15428966-15428967	Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs577682431	chr21:15428983-15428984	Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs190635489	chr21:15428984-15428985	Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs115289781	chr21:15428994-15428995	Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs529526933	chr21:15428996-15428997	Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs141747711	chr21:15429007-15429008	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs562846035	chr21:15429049-15429050	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs531751344	chr21:15429051-15429052	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs139455477	chr21:15429066-15429067	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs61049067	chr21:15429067-15429068	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs111642633	chr21:15429104-15429105	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs551967505	chr21:15429114-15429115	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs565208852	chr21:15429154-15429155	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs150560775	chr21:15429155-15429156	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs547461593	chr21:15429170-15429171	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs567706288	chr21:15429176-15429177	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs540310585	chr21:15429209-15429210	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs560239223	chr21:15429211-15429212	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs535743078	chr21:15429220-15429221	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs549250109	chr21:15429221-15429222	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs569180890	chr21:15429227-15429228	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs180982749	chr21:15429234-15429235	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs370623788	chr21:15429244-15429245	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs117011234	chr21:15429251-15429252	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs533921475	chr21:15429258-15429259	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs186158585	chr21:15429279-15429280	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs573255436	chr21:15429283-15429284	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs76468973	chr21:15429288-15429289	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs546772339	chr21:15429334-15429335	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs190136523	chr21:15429367-15429368	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs182853547	chr21:15429372-15429373	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs562808817	chr21:15429376-15429377	Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs576351607	chr21:15429409-15429410	Genic enhancers Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell lymphomas	19863542	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15401800-15452000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr21:15402600-15442400	Weak transcription	Dnd41	blood
3	chr21:15417000-15429600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:15423000-15442200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr21:15423400-15455600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr21:15423600-15443000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr21:15425800-15443400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr21:15427000-15429400	Enhancers	Pancreas	Pancrea
9	chr21:15427000-15431400	Enhancers	Esophagus	oesophagus
10	chr21:15427000-15432000	ZNF genes & repeats	Fetal Stomach	stomach
11	chr21:15427000-15433000	ZNF genes & repeats	Fetal Brain Female	brain
12	chr21:15427200-15430200	Enhancers	Rectal Smooth Muscle	rectum
13	chr21:15427200-15431200	Enhancers	Hela-S3	cervix
14	chr21:15427200-15436200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr21:15427800-15430000	Enhancers	Spleen	Spleen
16	chr21:15427800-15431200	Enhancers	Stomach Smooth Muscle	stomach
17	chr21:15428200-15428800	Weak transcription	Gastric	stomach
18	chr21:15428200-15436000	Weak transcription	Right Atrium	heart
19	chr21:15428400-15429000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr21:15428400-15429000	Weak transcription	Lung	lung
21	chr21:15428400-15430000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr21:15428400-15430400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr21:15428600-15428800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr21:15428800-15429600	Enhancers	Gastric	stomach
25	chr21:15428800-15430800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
26	chr21:15428800-15431000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr21:15428800-15432200	ZNF genes & repeats	Brain Germinal Matrix	brain
28	chr21:15428800-15449000	Weak transcription	Fetal Lung	lung
29	chr21:15429000-15429400	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr21:15429000-15429400	ZNF genes & repeats	Lung	lung
31	chr21:15429000-15430600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr21:15429000-15431800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr21:15429200-15429800	Enhancers	Ovary	ovary
34	chr21:15429200-15430200	Enhancers	Colon Smooth Muscle	Colon
35	chr21:15429200-15433800	Weak transcription	Thymus	Thymus
36	chr21:15429200-15436000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr21:15429400-15429800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr21:15429400-15431400	Weak transcription	Lung	lung
39	chr21:15429400-15436000	Weak transcription	Pancreas	Pancrea
40	chr21:15429600-15430400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr21:15429600-15430600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr21:15429600-15431400	Weak transcription	Gastric	stomach
43	chr21:15429800-15430000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr21:15429800-15431200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr21:15429800-15431200	Enhancers	HMEC	breast
46	chr21:15429800-15431600	Weak transcription	Ovary	ovary
47	chr21:15430000-15430400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr21:15430000-15430400	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr21:15430000-15430400	Enhancers	A549	lung
50	chr21:15430000-15430800	Enhancers	Muscle Satellite Cultured Cells	--

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