Variant report

Variant	esv3337666
Chromosome Location	chr21:37772882-37775080
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:37760125..37762264-chr21:37772502..37776396,3	MCF-7	breast:
2	chr21:37771959..37774697-chr21:37780310..37782249,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224421	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565661556	chr21:37772928-37772929	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs528548378	chr21:37772929-37772930	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs529968083	chr21:37772952-37772953	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs68081676	chr21:37772956-37772957	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs562075255	chr21:37772957-37772958	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs553326432	chr21:37772963-37772964	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs531123744	chr21:37772966-37772967	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs56187769	chr21:37772998-37772999	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs564390099	chr21:37773013-37773014	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs148007534	chr21:37773036-37773037	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs578021032	chr21:37773077-37773078	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs565650465	chr21:37773088-37773089	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs79723935	chr21:37773122-37773123	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs181482341	chr21:37773131-37773132	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs568109826	chr21:37773139-37773140	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs552782034	chr21:37773150-37773151	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs115394807	chr21:37773164-37773165	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs376443251	chr21:37773181-37773182	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs67850591	chr21:37773256-37773257	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs539764252	chr21:37773266-37773267	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs141542144	chr21:37773287-37773288	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs573174799	chr21:37773288-37773289	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs150451153	chr21:37773294-37773295	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs369736957	chr21:37773344-37773345	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs185000164	chr21:37773370-37773371	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs562204956	chr21:37773386-37773387	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs138341387	chr21:37773451-37773452	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs373770332	chr21:37773472-37773473	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs189342403	chr21:37773507-37773508	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs558223633	chr21:37773538-37773539	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs369164121	chr21:37773546-37773547	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs576380057	chr21:37773552-37773553	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs533377910	chr21:37773620-37773621	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs8129667	chr21:37773635-37773636	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs181002034	chr21:37773647-37773648	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs144063647	chr21:37773669-37773670	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs552248347	chr21:37773673-37773674	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs562457790	chr21:37773704-37773705	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs531468153	chr21:37773721-37773722	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs560664774	chr21:37773741-37773742	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs528090128	chr21:37773862-37773863	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs185237031	chr21:37773867-37773868	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs374110685	chr21:37773872-37773873	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs377006608	chr21:37773895-37773896	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs113087996	chr21:37773932-37773933	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs147249259	chr21:37774104-37774105	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs372577960	chr21:37774164-37774165	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs568108591	chr21:37774213-37774214	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs375786228	chr21:37774258-37774259	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs536742024	chr21:37774281-37774282	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
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
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
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	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
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
Ovarian cancer	22174824	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Acute myeloid leukemia	17237825	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Emphysema	19352772	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Down syndrome	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Down syndrome	21154855	CNVD
Pancreatic cancer	17952125	CNVD
Down syndrome	23512985	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37758400-37788000	Weak transcription	Colonic Mucosa	Colon
2	chr21:37758400-37792200	Weak transcription	Fetal Kidney	kidney
3	chr21:37758400-37793400	Weak transcription	Aorta	Aorta
4	chr21:37758400-37794600	Weak transcription	Left Ventricle	heart
5	chr21:37758400-37794800	Weak transcription	Right Ventricle	heart
6	chr21:37758600-37773000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr21:37758600-37774600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr21:37758600-37774600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr21:37758600-37774800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr21:37758600-37774800	Weak transcription	NHDF-Ad	bronchial
11	chr21:37758600-37775200	Weak transcription	Primary T cells from cord blood	blood
12	chr21:37758600-37777400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr21:37758600-37777600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr21:37758600-37780400	Weak transcription	HUVEC	blood vessel
15	chr21:37758600-37783600	Weak transcription	Brain Germinal Matrix	brain
16	chr21:37758600-37783800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr21:37758600-37783800	Weak transcription	Spleen	Spleen
18	chr21:37758600-37785000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr21:37758600-37785000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr21:37758600-37785600	Weak transcription	Adipose Nuclei	Adipose
21	chr21:37758600-37787400	Weak transcription	Primary B cells from cord blood	blood
22	chr21:37758600-37790600	Weak transcription	Brain Anterior Caudate	brain
23	chr21:37758600-37790800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr21:37758600-37791000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr21:37758600-37793400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr21:37758600-37794200	Weak transcription	Liver	Liver
27	chr21:37758600-37797600	Weak transcription	HSMM	muscle
28	chr21:37758800-37773000	Weak transcription	Esophagus	oesophagus
29	chr21:37758800-37774600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr21:37758800-37774600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr21:37758800-37775000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr21:37758800-37775000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr21:37758800-37780400	Weak transcription	Fetal Lung	lung
34	chr21:37758800-37785200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr21:37758800-37785200	Weak transcription	Pancreas	Pancrea
36	chr21:37758800-37785400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr21:37758800-37795000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr21:37759000-37774400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr21:37759000-37780400	Weak transcription	Hela-S3	cervix
40	chr21:37761200-37775800	Weak transcription	HSMMtube	muscle
41	chr21:37761400-37774600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr21:37761400-37775600	Weak transcription	Brain Substantia Nigra	brain
43	chr21:37761600-37773000	Weak transcription	GM12878-XiMat	blood
44	chr21:37761600-37774400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr21:37761600-37775800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr21:37761600-37775800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr21:37761600-37779200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr21:37761600-37790600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr21:37761600-37792200	Weak transcription	Brain Angular Gyrus	brain
50	chr21:37761600-37792400	Weak transcription	Brain Hippocampus Middle	brain

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