Variant report

Variant	nsv523400
Chromosome Location	chr5:115724366-115725791
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12654903	chr5:115724366-115724367	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377578767	chr5:115724385-115724386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76790498	chr5:115724398-115724399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184710353	chr5:115724417-115724418	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537351494	chr5:115724435-115724436	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189157397	chr5:115724462-115724463	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537835863	chr5:115724477-115724478	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114618352	chr5:115724504-115724505	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79145587	chr5:115724512-115724513	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35990802	chr5:115724523-115724524	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs17139673	chr5:115724524-115724525	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577532783	chr5:115724550-115724551	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541614569	chr5:115724552-115724553	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73781060	chr5:115724566-115724567	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75238836	chr5:115724592-115724593	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180912890	chr5:115724606-115724607	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10039345	chr5:115724644-115724645	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538634000	chr5:115724653-115724654	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558558744	chr5:115724681-115724682	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147896301	chr5:115724704-115724705	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111318990	chr5:115724732-115724733	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534821364	chr5:115724766-115724767	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553888416	chr5:115724776-115724777	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573754978	chr5:115724794-115724795	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574574847	chr5:115724799-115724800	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373615370	chr5:115724802-115724803	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs562762517	chr5:115724817-115724818	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs541855850	chr5:115724819-115724820	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs369016207	chr5:115724865-115724866	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs185963273	chr5:115724873-115724874	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs373275559	chr5:115724876-115724877	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs190702007	chr5:115724877-115724878	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs564893796	chr5:115724911-115724912	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs527340420	chr5:115724913-115724914	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs563147431	chr5:115724953-115724954	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs547180214	chr5:115724955-115724956	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs116659555	chr5:115724997-115724998	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs113995746	chr5:115725016-115725017	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs181544103	chr5:115725017-115725018	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs569994513	chr5:115725043-115725044	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs148962438	chr5:115725068-115725069	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs186325086	chr5:115725092-115725093	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs26330	chr5:115725123-115725124	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs535067979	chr5:115725135-115725136	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs554759511	chr5:115725139-115725140	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs575279960	chr5:115725176-115725177	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs143648143	chr5:115725184-115725185	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs190833206	chr5:115725208-115725209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148098437	chr5:115725209-115725210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142008997	chr5:115725229-115725230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Sezary syndrome	18413736	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115697600-115748400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:115706000-115724400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:115707600-115748400	Weak transcription	Fetal Intestine Large	intestine
4	chr5:115708600-115754000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:115711800-115730600	Weak transcription	Gastric	stomach
6	chr5:115714400-115724400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:115714400-115730200	Weak transcription	Right Ventricle	heart
8	chr5:115715600-115724400	Weak transcription	Fetal Kidney	kidney
9	chr5:115717800-115724400	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:115718200-115724400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:115718200-115724600	Weak transcription	Fetal Brain Female	brain
12	chr5:115718400-115737000	Weak transcription	Primary B cells from cord blood	blood
13	chr5:115718600-115748400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr5:115718800-115724400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:115718800-115731000	Weak transcription	Spleen	Spleen
16	chr5:115719000-115724400	Weak transcription	Adipose Nuclei	Adipose
17	chr5:115719000-115724400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:115719400-115724400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:115719400-115734800	Weak transcription	Primary T cells from cord blood	blood
20	chr5:115719600-115728000	Weak transcription	Fetal Intestine Small	intestine
21	chr5:115722200-115724400	Weak transcription	Esophagus	oesophagus
22	chr5:115723000-115724400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr5:115723000-115724400	Weak transcription	Pancreas	Pancrea
24	chr5:115723000-115776000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr5:115723400-115724400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:115723400-115730200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr5:115723600-115784800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr5:115724200-115724400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr5:115724200-115724600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr5:115724200-115724600	Enhancers	HUVEC	blood vessel
31	chr5:115724200-115724800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr5:115724200-115724800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:115724200-115724800	Enhancers	Fetal Muscle Trunk	muscle
34	chr5:115724200-115724800	Enhancers	Left Ventricle	heart
35	chr5:115724200-115724800	Enhancers	Psoas Muscle	Psoas
36	chr5:115724400-115724600	Enhancers	Fetal Muscle Leg	muscle
37	chr5:115724400-115724800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr5:115724400-115724800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:115724400-115724800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:115724400-115724800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:115724400-115724800	Enhancers	H9 Cell Line	embryonic stem cell
42	chr5:115724400-115724800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:115724400-115724800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr5:115724400-115724800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr5:115724400-115724800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr5:115724400-115724800	Enhancers	Esophagus	oesophagus
47	chr5:115724400-115724800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr5:115724400-115725000	Enhancers	H1 Cell Line	embryonic stem cell
49	chr5:115724400-115725000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr5:115724400-115725000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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