Variant report

Variant	esv3424748
Chromosome Location	chr21:16402081-16405279
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:16401518..16403961-chr21:16435811..16437558,2	MCF-7	breast:
2	chr21:16401281..16403693-chr21:16405918..16408150,2	MCF-7	breast:
3	chr21:16404641..16407621-chr21:16410737..16413727,2	K562	blood:
4	chr21:16402301..16404920-chr21:16410116..16411661,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180530	chromatin interactions

Extended variants
information (count: 228 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:228 , 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	rs548554353	chr21:16402115-16402116	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs565468629	chr21:16402128-16402129	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562170348	chr21:16402133-16402134	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs10549533	chr21:16402147-16402148	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs142121053	chr21:16402150-16402151	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs377286759	chr21:16402165-16402166	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs10595410	chr21:16402168-16402169	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs35730965	chr21:16402169-16402170	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs35588261	chr21:16402172-16402173	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs145996992	chr21:16402204-16402205	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs190563403	chr21:16402215-16402216	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs561217253	chr21:16402225-16402226	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs115440278	chr21:16402233-16402234	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs549707592	chr21:16402235-16402236	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs569651148	chr21:16402274-16402275	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs532231350	chr21:16402316-16402317	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs180908131	chr21:16402326-16402327	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs565864467	chr21:16402332-16402333	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs78977590	chr21:16402378-16402379	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs8127763	chr21:16402431-16402432	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs185195981	chr21:16402453-16402454	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536651611	chr21:16402522-16402523	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs79463845	chr21:16402525-16402526	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs576504816	chr21:16402557-16402558	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs545471491	chr21:16402594-16402595	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs558915586	chr21:16402623-16402624	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs533990397	chr21:16402624-16402625	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs139897580	chr21:16402627-16402628	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs143699308	chr21:16402628-16402629	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs530279703	chr21:16402654-16402655	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs543096587	chr21:16402663-16402664	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs563285812	chr21:16402677-16402678	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs146807963	chr21:16402696-16402697	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs113507417	chr21:16402707-16402708	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs74409708	chr21:16402807-16402808	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs547318262	chr21:16402810-16402811	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs140203223	chr21:16402832-16402833	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs559458403	chr21:16402843-16402844	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs575601818	chr21:16402851-16402852	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs372510553	chr21:16402854-16402855	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs111428262	chr21:16402859-16402860	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs190288580	chr21:16402906-16402907	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs568411457	chr21:16402947-16402948	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs537345135	chr21:16402960-16402961	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs182820019	chr21:16402968-16402969	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs570013213	chr21:16403015-16403016	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs538630372	chr21:16403050-16403051	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs558639200	chr21:16403055-16403056	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs532648908	chr21:16403075-16403076	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs572165191	chr21:16403085-16403086	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20409316	CNVD

Chromatin state (count:189 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16360400-16402600	Weak transcription	Placenta	Placenta
2	chr21:16364800-16423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr21:16368600-16414600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr21:16374800-16423200	Weak transcription	Colonic Mucosa	Colon
5	chr21:16378800-16406000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr21:16379600-16403000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr21:16379600-16414800	Weak transcription	Left Ventricle	heart
8	chr21:16379600-16414800	Weak transcription	Ovary	ovary
9	chr21:16379800-16406400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr21:16380600-16414600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr21:16381000-16403200	Weak transcription	Fetal Thymus	thymus
12	chr21:16381200-16404200	Weak transcription	Fetal Intestine Large	intestine
13	chr21:16381800-16403200	Weak transcription	Adipose Nuclei	Adipose
14	chr21:16382000-16414600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr21:16383400-16414600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr21:16386000-16413200	Weak transcription	K562	blood
17	chr21:16388800-16402200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr21:16388800-16402800	Weak transcription	Osteobl	bone
19	chr21:16388800-16407000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr21:16389000-16405800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr21:16391200-16404200	Weak transcription	NH-A	brain
22	chr21:16391200-16406800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr21:16393800-16404800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr21:16393800-16406600	Weak transcription	Primary T cells from cord blood	blood
25	chr21:16393800-16406800	Weak transcription	Dnd41	blood
26	chr21:16394000-16404400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr21:16394400-16406200	Weak transcription	HMEC	breast
28	chr21:16395200-16402200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr21:16395600-16402400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr21:16395600-16406800	Weak transcription	NHEK	skin
31	chr21:16396200-16403200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr21:16396400-16406000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr21:16396400-16406600	Weak transcription	HSMMtube	muscle
34	chr21:16396600-16402200	Weak transcription	NHDF-Ad	bronchial
35	chr21:16396600-16406200	Weak transcription	NHLF	lung
36	chr21:16397200-16413200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr21:16397600-16404000	Weak transcription	GM12878-XiMat	blood
38	chr21:16397600-16406200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr21:16399000-16402800	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr21:16399400-16402400	Enhancers	Liver	Liver
41	chr21:16399400-16403400	Genic enhancers	Primary hematopoietic stem cells	blood
42	chr21:16400000-16402200	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr21:16400000-16423200	Weak transcription	Fetal Stomach	stomach
44	chr21:16400200-16423200	Weak transcription	Brain Hippocampus Middle	brain
45	chr21:16400400-16403400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr21:16400600-16402200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr21:16400600-16403200	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr21:16400600-16406200	Weak transcription	Colon Smooth Muscle	Colon
49	chr21:16400600-16409800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr21:16400800-16402800	Weak transcription	Duodenum Mucosa	Duodenum

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