Variant report

Variant	nsv599566
Chromosome Location	chr5:118698583-118702783
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118702494..118705018-chr5:118721326..118723316,2	K562	blood:
2	chr5:118696081..118700363-chr5:118700434..118704100,5	MCF-7	breast:
3	chr5:118697330..118698986-chr5:118703713..118705854,2	K562	blood:
4	chr5:118690596..118694725-chr5:118695495..118698867,4	MCF-7	breast:
5	chr5:118696081..118700363-chr5:118700434..118704100,5	MCF-7	breast:
6	chr5:118695609..118697325-chr5:118702023..118704642,2	K562	blood:
7	chr5:118694003..118697109-chr5:118701584..118704422,3	K562	blood:

Variant related genes	Relation type
ENSG00000145779	chromatin interactions

Extended variants
information (count: 180 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10064783	chr5:118698583-118698584	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs17145259	chr5:118698609-118698610	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs569588473	chr5:118698628-118698629	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs568117540	chr5:118698632-118698633	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs531991145	chr5:118698680-118698681	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs551823017	chr5:118698681-118698682	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs565461312	chr5:118698682-118698683	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534445080	chr5:118698710-118698711	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs547960931	chr5:118698770-118698771	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs567810239	chr5:118698771-118698772	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs536904421	chr5:118698797-118698798	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs556586195	chr5:118698833-118698834	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs570408276	chr5:118698843-118698844	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs187119607	chr5:118698844-118698845	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs142542430	chr5:118698873-118698874	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs559021293	chr5:118698925-118698926	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs191931085	chr5:118698926-118698927	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs114458987	chr5:118698964-118698965	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs17145265	chr5:118698998-118698999	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs574553311	chr5:118699023-118699024	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs13155880	chr5:118699108-118699109	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs150958736	chr5:118699117-118699118	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs182680377	chr5:118699171-118699172	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs140649881	chr5:118699208-118699209	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs187700151	chr5:118699222-118699223	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs528168064	chr5:118699256-118699257	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs145778841	chr5:118699346-118699347	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs138437352	chr5:118699368-118699369	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs541090617	chr5:118699411-118699412	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs536460656	chr5:118699417-118699418	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs192381754	chr5:118699486-118699487	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs570340533	chr5:118699492-118699493	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs114610908	chr5:118699506-118699507	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs576128193	chr5:118699525-118699526	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs35109842	chr5:118699537-118699538	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs376498380	chr5:118699548-118699549	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs141424766	chr5:118699560-118699561	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs554777857	chr5:118699568-118699569	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs574542874	chr5:118699570-118699571	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs534840256	chr5:118699573-118699574	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs116029628	chr5:118699613-118699614	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs150281556	chr5:118699616-118699617	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs185571325	chr5:118699633-118699634	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
44	rs76352049	chr5:118699655-118699656	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs190494231	chr5:118699695-118699696	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs528081781	chr5:118699700-118699701	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs192022048	chr5:118699708-118699709	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs561649438	chr5:118699722-118699723	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs530657001	chr5:118699763-118699764	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs138679240	chr5:118699789-118699790	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Prostate cancer	22341455	CNVD
Gastric cancer	17229543	CNVD

Chromatin state (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118690600-118700400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr5:118691800-118700400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
3	chr5:118692000-118707200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr5:118692800-118702000	Weak transcription	Aorta	Aorta
5	chr5:118693000-118698600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:118693000-118699800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr5:118693200-118698600	Weak transcription	Right Ventricle	heart
8	chr5:118693200-118698800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr5:118693400-118699200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr5:118693400-118706800	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr5:118693800-118701600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:118694000-118707200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr5:118694400-118700400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:118694400-118702800	Genic enhancers	Primary B cells from peripheral blood	blood
15	chr5:118694400-118704600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:118694600-118700400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
17	chr5:118694800-118701200	Weak transcription	Fetal Lung	lung
18	chr5:118694800-118701600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:118694800-118703800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:118695000-118699400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr5:118695000-118699800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr5:118695000-118701600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:118695000-118702000	Weak transcription	Colonic Mucosa	Colon
24	chr5:118695000-118702400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr5:118695200-118699600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:118695200-118703000	Genic enhancers	Primary B cells from cord blood	blood
27	chr5:118695200-118706800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:118695400-118701600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr5:118695600-118698600	Weak transcription	Thymus	Thymus
30	chr5:118695600-118700200	Genic enhancers	Primary T cells from cord blood	blood
31	chr5:118695800-118699000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr5:118695800-118699400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:118696000-118702400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:118696000-118704200	Weak transcription	Fetal Intestine Small	intestine
35	chr5:118696200-118699800	Enhancers	Placenta	Placenta
36	chr5:118696200-118700000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:118696200-118700800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:118696200-118701400	Weak transcription	Colon Smooth Muscle	Colon
39	chr5:118696200-118702000	Weak transcription	Fetal Kidney	kidney
40	chr5:118696400-118703800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr5:118696600-118699000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr5:118696600-118699000	Weak transcription	Fetal Stomach	stomach
43	chr5:118696600-118701000	Weak transcription	Stomach Mucosa	stomach
44	chr5:118696800-118699200	Enhancers	Esophagus	oesophagus
45	chr5:118696800-118701400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr5:118696800-118703000	Weak transcription	A549	lung
47	chr5:118696800-118704400	Enhancers	HMEC	breast
48	chr5:118697000-118699400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr5:118697000-118699400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr5:118697000-118699800	Weak transcription	Hela-S3	cervix

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