Variant report

Variant	nsv523557
Chromosome Location	chr21:15862491-15870171
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:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:15860428..15863237-chr21:15863342..15865579,2	K562	blood:
2	chr21:15857773..15859999-chr21:15862087..15863944,2	K562	blood:
3	chr21:15844220..15846274-chr21:15867274..15869149,2	K562	blood:
4	chr21:15858969..15860796-chr21:15865823..15868637,2	MCF-7	breast:
5	chr21:15867966..15869641-chr21:15871722..15874223,2	K562	blood:
6	chr21:15863117..15865240-chr21:15875551..15877419,2	K562	blood:
7	chr21:15852608..15854130-chr21:15861560..15864028,2	K562	blood:
8	chr21:15860428..15863237-chr21:15863342..15865579,2	K562	blood:
9	chr21:15860666..15863786-chr21:15866829..15869063,4	K562	blood:
10	chr21:15865993..15867759-chr21:15875544..15877082,2	K562	blood:
11	chr21:15860666..15863786-chr21:15866829..15869063,4	K562	blood:
12	chr21:15862079..15863579-chr6:26301955..26303620,2	K562	blood:
13	chr21:15863459..15867536-chr21:15871353..15874494,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AF165138.7.1-5	chr21:15869460-15869600	l_2170_chr21:15869459-15921459_brain

No data

Variant related genes	Relation type
ENSG00000155307	chromatin interactions

Extended variants
information (count: 334 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2822701	chr21:15862491-15862492	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530077380	chr21:15862530-15862531	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17003287	chr21:15862531-15862532	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73344108	chr21:15862545-15862546	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs540482016	chr21:15862563-15862564	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs407109	chr21:15862584-15862585	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs190319374	chr21:15862587-15862588	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182923911	chr21:15862629-15862630	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562453373	chr21:15862645-15862646	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576135921	chr21:15862652-15862653	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2822702	chr21:15862675-15862676	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs2822703	chr21:15862701-15862702	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs533491200	chr21:15862702-15862703	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527433023	chr21:15862706-15862707	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35140744	chr21:15862744-15862745	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs80126187	chr21:15862751-15862752	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200727848	chr21:15862782-15862783	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556164861	chr21:15862786-15862787	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561174589	chr21:15862802-15862803	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529927558	chr21:15862825-15862826	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549691908	chr21:15862834-15862835	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568883055	chr21:15862866-15862867	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543833242	chr21:15862869-15862870	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537862940	chr21:15862875-15862876	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187619426	chr21:15862924-15862925	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12482183	chr21:15862930-15862931	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs193277955	chr21:15862943-15862944	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376553942	chr21:15862957-15862958	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554063146	chr21:15862973-15862974	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77998753	chr21:15863004-15863005	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536926263	chr21:15863019-15863020	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376493466	chr21:15863077-15863078	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556920499	chr21:15863095-15863096	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576074844	chr21:15863114-15863115	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139641774	chr21:15863127-15863128	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564917801	chr21:15863135-15863136	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10585436	chr21:15863153-15863154	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377352192	chr21:15863154-15863155	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572034363	chr21:15863164-15863165	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545524248	chr21:15863188-15863189	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560897205	chr21:15863195-15863196	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529920477	chr21:15863229-15863230	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549628713	chr21:15863237-15863238	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563249839	chr21:15863242-15863243	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550520298	chr21:15863270-15863271	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531553767	chr21:15863281-15863282	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551358916	chr21:15863306-15863307	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571656503	chr21:15863378-15863379	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534020363	chr21:15863409-15863410	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182495262	chr21:15863422-15863423	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15847800-15874800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr21:15853200-15885800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr21:15853400-15905400	Weak transcription	HUVEC	blood vessel
4	chr21:15854600-15867600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr21:15854600-15868600	Weak transcription	Fetal Thymus	thymus
6	chr21:15854800-15864800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr21:15854800-15867600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr21:15854800-15875600	Weak transcription	Thymus	Thymus
9	chr21:15855200-15867000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr21:15855400-15867200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr21:15855400-15869000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr21:15855400-15871000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr21:15855600-15865200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr21:15856200-15863600	Weak transcription	Primary B cells from cord blood	blood
15	chr21:15856200-15875400	Weak transcription	Spleen	Spleen
16	chr21:15857000-15865400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr21:15857200-15882600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr21:15857600-15863600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr21:15857800-15863000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr21:15858600-15862600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr21:15859400-15865200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr21:15860400-15865200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr21:15860600-15863600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr21:15860800-15867000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr21:15861400-15863000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr21:15861400-15864800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr21:15861400-15874800	Weak transcription	Small Intestine	intestine
28	chr21:15861600-15862600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr21:15861600-15862600	Weak transcription	K562	blood
30	chr21:15861600-15863200	Weak transcription	Primary T cells from cord blood	blood
31	chr21:15861600-15866200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr21:15861600-15866200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr21:15861600-15881000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr21:15861800-15862600	Weak transcription	Dnd41	blood
35	chr21:15861800-15862600	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr21:15862400-15865800	Strong transcription	GM12878-XiMat	blood
37	chr21:15862600-15863200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr21:15862600-15863600	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr21:15862600-15866200	Genic enhancers	K562	blood
40	chr21:15862600-15870600	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr21:15862600-15889400	Strong transcription	Dnd41	blood
42	chr21:15863000-15863800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr21:15863000-15864000	Strong transcription	Primary hematopoietic stem cells	blood
44	chr21:15863200-15864000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr21:15863200-15870600	Strong transcription	Primary T cells from cord blood	blood
46	chr21:15863600-15863800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
47	chr21:15863600-15864000	ZNF genes & repeats	Primary B cells from cord blood	blood
48	chr21:15863600-15864200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr21:15863600-15864800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr21:15863800-15864800	Enhancers	Primary T helper cells PMA-I stimulated	--

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