Variant report

Variant	esv1800015
Chromosome Location	chr21:15884475-15906590
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:36)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:15885068..15887603-chr21:15887779..15891209,3	K562	blood:
2	chr21:15904966..15908708-chr21:15954963..15957807,4	K562	blood:
3	chr21:15888072..15891465-chr21:15894886..15898226,3	K562	blood:
4	chr21:15885414..15887800-chr21:16108116..16110605,2	K562	blood:
5	chr21:15876554..15878638-chr21:15883430..15885143,2	K562	blood:
6	chr21:15872479..15875273-chr21:15885613..15887603,2	K562	blood:
7	chr21:15885068..15887603-chr21:15887779..15891209,3	K562	blood:
8	chr21:15886516..15889058-chr21:15891380..15893121,2	K562	blood:
9	chr21:15870384..15873192-chr21:15902797..15905377,2	K562	blood:
10	chr21:15870384..15874520-chr21:15900850..15905377,4	K562	blood:
11	chr21:15886516..15889058-chr21:15891380..15893121,2	K562	blood:
12	chr21:15889503..15891554-chr21:15895441..15898226,3	K562	blood:
13	chr21:15883124..15887603-chr21:15889415..15891209,4	K562	blood:
14	chr21:15893314..15896057-chr21:15897268..15899492,2	K562	blood:
15	chr21:15882543..15884938-chr21:15891850..15893710,2	K562	blood:
16	chr21:15889503..15891554-chr21:15895441..15898226,3	K562	blood:
17	chr21:15881208..15883540-chr21:15886975..15889188,2	K562	blood:
18	chr21:15878918..15881751-chr21:15882365..15886915,4	K562	blood:
19	chr21:15882543..15885229-chr21:15891850..15893526,2	K562	blood:
20	chr21:15883124..15887603-chr21:15889415..15891209,4	K562	blood:
21	chr21:15900972..15903079-chr21:15904912..15907876,2	K562	blood:
22	chr21:15875519..15877306-chr21:15885573..15888247,2	K562	blood:
23	chr21:15882752..15884455-chr21:15884908..15886969,2	K562	blood:
24	chr21:15893314..15896057-chr21:15897268..15899492,2	K562	blood:
25	chr21:15882543..15884938-chr21:15891850..15893710,2	K562	blood:
26	chr21:15904847..15907317-chr21:16028940..16030930,2	K562	blood:
27	chr21:15904847..15906603-chr21:16029430..16031380,2	K562	blood:
28	chr21:15905941..15908063-chr21:15951429..15954293,3	K562	blood:
29	chr21:15898174..15900938-chr21:15917034..15919951,2	K562	blood:
30	chr21:15901318..15902999-chr21:16086127..16088877,2	K562	blood:
31	chr21:15903442..15906073-chr21:15908786..15911014,2	K562	blood:
32	chr20:57606873..57607444-chr21:15903062..15903984,2	MCF-7	breast:
33	chr21:15900972..15903079-chr21:15904912..15907876,2	K562	blood:
34	chr21:15904288..15906853-chr21:15912996..15915455,2	K562	blood:
35	chr21:15882543..15885229-chr21:15891850..15893526,2	K562	blood:
36	chr21:15888072..15891465-chr21:15894886..15898226,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AF165138.7.1-4	chr21:15895592-15895715	NONHSAT081164
2	lnc-AF165138.7.1-4	chr21:15893494-15893542	NONHSAT081164

No data

Variant related genes	Relation type
ENSG00000124172	chromatin interactions
ENSG00000243440	chromatin interactions
ENSG00000155307	chromatin interactions

Extended variants
information (count: 985 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:985 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2822710	chr21:15884475-15884476	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374472798	chr21:15884541-15884542	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373465861	chr21:15884552-15884553	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575977009	chr21:15884556-15884557	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544176424	chr21:15884570-15884571	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564171943	chr21:15884581-15884582	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181311810	chr21:15884616-15884617	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546799875	chr21:15884623-15884624	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377337079	chr21:15884625-15884626	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560698097	chr21:15884670-15884671	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529456739	chr21:15884678-15884679	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535541810	chr21:15884696-15884697	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185833210	chr21:15884748-15884749	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs57285749	chr21:15884749-15884750	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs376866016	chr21:15884758-15884759	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs60792423	chr21:15884812-15884813	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs369928437	chr21:15884825-15884826	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373496389	chr21:15884840-15884841	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571178965	chr21:15884848-15884849	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533839868	chr21:15884853-15884854	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545336185	chr21:15884882-15884883	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376843789	chr21:15884889-15884890	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73344160	chr21:15884899-15884900	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs372937127	chr21:15884918-15884919	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375642332	chr21:15884927-15884928	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3761320	chr21:15884949-15884950	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs3761321	chr21:15884955-15884956	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs10679308	chr21:15884974-15884975	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs3834672	chr21:15884975-15884976	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs8127371	chr21:15885034-15885035	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs191775377	chr21:15885043-15885044	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577505018	chr21:15885065-15885066	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577968695	chr21:15885068-15885069	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2049857	chr21:15885104-15885105	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs145409579	chr21:15885159-15885160	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181933958	chr21:15885163-15885164	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149217974	chr21:15885189-15885190	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75619795	chr21:15885201-15885202	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532017426	chr21:15885212-15885213	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75237614	chr21:15885238-15885239	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2049858	chr21:15885274-15885275	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs560081743	chr21:15885285-15885286	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573823458	chr21:15885347-15885348	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541896059	chr21:15885356-15885357	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373897287	chr21:15885431-15885432	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556253895	chr21:15885448-15885449	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562144181	chr21:15885475-15885476	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547414230	chr21:15885480-15885481	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567225666	chr21:15885506-15885507	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535976943	chr21:15885509-15885510	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:462 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15853200-15885800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr21:15853400-15905400	Weak transcription	HUVEC	blood vessel
3	chr21:15862600-15889400	Strong transcription	Dnd41	blood
4	chr21:15867000-15890600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr21:15873400-15891000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr21:15875800-15894000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr21:15877200-15885600	Weak transcription	Gastric	stomach
8	chr21:15878000-15890200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr21:15878600-15885000	Strong transcription	Primary T cells from cord blood	blood
10	chr21:15879200-15892600	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr21:15879400-15889400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr21:15879400-15892800	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr21:15879600-15888800	Strong transcription	Primary B cells from cord blood	blood
14	chr21:15879800-15892800	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr21:15880800-15892800	Strong transcription	K562	blood
16	chr21:15881000-15885200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr21:15881400-15884600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr21:15881600-15891000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr21:15881800-15888800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr21:15881800-15893600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr21:15882000-15885200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr21:15882000-15888800	Strong transcription	Primary B cells from peripheral blood	blood
23	chr21:15882000-15889000	Strong transcription	Primary hematopoietic stem cells	blood
24	chr21:15882200-15890200	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr21:15882800-15887600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr21:15883000-15892800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr21:15883200-15886400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr21:15883200-15892800	Weak transcription	Thymus	Thymus
29	chr21:15883200-15893200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr21:15883200-15898600	Weak transcription	Spleen	Spleen
31	chr21:15883600-15888800	Strong transcription	GM12878-XiMat	blood
32	chr21:15883600-15895200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr21:15883800-15888200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr21:15884000-15888000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr21:15884400-15885600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr21:15884400-15892800	Weak transcription	Fetal Thymus	thymus
37	chr21:15884600-15889200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr21:15885000-15886200	Weak transcription	Primary T cells from cord blood	blood
39	chr21:15885200-15886000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr21:15885200-15886000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr21:15885600-15886600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr21:15886000-15886400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr21:15886000-15888200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr21:15886200-15891000	Strong transcription	Primary T cells from cord blood	blood
45	chr21:15886400-15887600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr21:15886400-15888400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr21:15886600-15891000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr21:15887600-15887800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
49	chr21:15887600-15889400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr21:15887800-15888000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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