Variant report

Variant	nsv966029
Chromosome Location	chr21:15818808-15833739
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:15827441..15829490-chr21:15833516..15835972,2	K562	blood:
2	chr21:15816301..15819436-chr21:15830607..15833716,3	K562	blood:
3	chr21:15818489..15820512-chr21:15822543..15824167,2	K562	blood:
4	chr21:15825624..15828360-chr21:15829254..15832008,4	K562	blood:
5	chr21:15825624..15828360-chr21:15829254..15832008,4	K562	blood:
6	chr21:15818489..15820512-chr21:15822543..15824167,2	K562	blood:
7	chr21:15759229..15762199-chr21:15825176..15826732,2	K562	blood:
8	chr21:15814489..15816453-chr21:15820620..15823655,3	K562	blood:
9	chr21:15825365..15827062-chr21:16144485..16147042,2	K562	blood:
10	chr21:15827441..15829490-chr21:15833516..15835972,2	K562	blood:
11	chr21:15816301..15819436-chr21:15830607..15833716,3	K562	blood:
12	chr21:15830326..15832443-chr21:16163338..16165072,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000225502	chromatin interactions

Extended variants
information (count: 447 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:447 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575432755	chr21:15818820-15818821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560974065	chr21:15818830-15818831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146338223	chr21:15818833-15818834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555748169	chr21:15818846-15818847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575596999	chr21:15818850-15818851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139393168	chr21:15818868-15818869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370539910	chr21:15818885-15818886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141574517	chr21:15818886-15818887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150879152	chr21:15818912-15818913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138250227	chr21:15818947-15818948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372434165	chr21:15818951-15818952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117509543	chr21:15818954-15818955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189848104	chr21:15818998-15818999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75070670	chr21:15819035-15819036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532526273	chr21:15819072-15819073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551419076	chr21:15819073-15819074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181493033	chr21:15819080-15819081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149276007	chr21:15819116-15819117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564011642	chr21:15819220-15819221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146205124	chr21:15819227-15819228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11088043	chr21:15819232-15819233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs139178872	chr21:15819299-15819300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142391769	chr21:15819336-15819337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117187223	chr21:15819343-15819344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76265125	chr21:15819354-15819355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371647585	chr21:15819463-15819464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559028710	chr21:15819510-15819511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374578233	chr21:15819602-15819603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186155161	chr21:15819635-15819636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541317697	chr21:15819667-15819668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142197038	chr21:15819676-15819677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532597431	chr21:15819715-15819716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs151199140	chr21:15819720-15819721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9978374	chr21:15819721-15819722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs139132096	chr21:15819728-15819729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543958711	chr21:15819747-15819748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115531542	chr21:15819775-15819776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149924903	chr21:15819811-15819812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546173670	chr21:15819845-15819846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79001389	chr21:15819872-15819873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147702432	chr21:15819882-15819883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547340664	chr21:15819927-15819928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570820995	chr21:15819967-15819968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9979004	chr21:15819992-15819993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs529818546	chr21:15820040-15820041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549499785	chr21:15820102-15820103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569403359	chr21:15820118-15820119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142422522	chr21:15820123-15820124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558528749	chr21:15820149-15820150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565501110	chr21:15820150-15820151	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	22037309	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15816600-15819000	Enhancers	K562	blood
2	chr21:15819000-15822400	Weak transcription	K562	blood
3	chr21:15821000-15821200	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr21:15822400-15823800	Enhancers	K562	blood
5	chr21:15823000-15825000	Enhancers	GM12878-XiMat	blood
6	chr21:15823600-15826400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr21:15823800-15827400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr21:15823800-15828000	Flanking Active TSS	K562	blood
9	chr21:15824000-15828000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr21:15824000-15828200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr21:15824000-15828600	Enhancers	Primary hematopoietic stem cells	blood
12	chr21:15824200-15828200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr21:15824400-15824800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr21:15824600-15825000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr21:15824600-15825000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr21:15824800-15825200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr21:15825000-15825400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr21:15825000-15825400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr21:15825000-15827600	Flanking Active TSS	GM12878-XiMat	blood
20	chr21:15825200-15825400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr21:15825400-15825600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr21:15825400-15825600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr21:15825400-15826600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr21:15825600-15826400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr21:15825600-15826800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr21:15826000-15827000	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr21:15826200-15827400	Enhancers	Fetal Intestine Large	intestine
28	chr21:15826200-15827400	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr21:15826200-15827400	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr21:15826400-15826800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr21:15826400-15827000	Enhancers	Fetal Intestine Small	intestine
32	chr21:15826400-15827000	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr21:15826400-15827200	Enhancers	Fetal Stomach	stomach
34	chr21:15826400-15827400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr21:15826400-15827400	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr21:15826400-15827400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr21:15826400-15827400	Enhancers	Stomach Mucosa	stomach
38	chr21:15826600-15827400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr21:15826600-15827400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr21:15826600-15827400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr21:15826600-15827800	Enhancers	Dnd41	blood
42	chr21:15826800-15827200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr21:15826800-15827400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr21:15827000-15827400	Weak transcription	Fetal Intestine Small	intestine
45	chr21:15827000-15827400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr21:15827400-15827800	Enhancers	Fetal Intestine Small	intestine
47	chr21:15827400-15827800	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr21:15827400-15828200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr21:15827600-15828200	Enhancers	GM12878-XiMat	blood
50	chr21:15828000-15829200	Enhancers	K562	blood

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