Variant report

Variant	nsv969193
Chromosome Location	chr5:108410957-108429737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:108421631..108425653-chr5:108427345..108431594,4	K562	blood:
2	chr15:70389785..70390556-chr5:108422890..108423870,2	MCF-7	breast:
3	chr5:108425184..108427337-chr5:108429804..108432211,2	K562	blood:
4	chr5:108421631..108425653-chr5:108427345..108431594,4	K562	blood:
5	chr5:108416839..108418861-chr5:108419923..108421863,2	MCF-7	breast:
6	chr15:70389819..70390406-chr5:108422870..108423390,2	HCT-116	colon:
7	chr5:108416839..108418861-chr5:108419923..108421863,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140332	chromatin interactions

Extended variants
information (count: 766 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:766 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540981894	chr5:108411020-108411021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139341667	chr5:108411023-108411024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570898856	chr5:108411060-108411061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369282675	chr5:108411173-108411174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372007889	chr5:108411176-108411177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577461095	chr5:108411178-108411179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189495682	chr5:108411183-108411184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182126553	chr5:108411186-108411187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184306783	chr5:108411194-108411195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77173218	chr5:108411200-108411201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541934916	chr5:108411220-108411221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561804571	chr5:108411249-108411250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527682889	chr5:108411255-108411256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547383325	chr5:108411272-108411273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570761966	chr5:108411277-108411278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188746536	chr5:108411288-108411289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181897067	chr5:108411290-108411291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186111695	chr5:108411293-108411294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538982469	chr5:108411314-108411315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533058446	chr5:108411327-108411328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557615906	chr5:108411341-108411342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191113666	chr5:108411346-108411347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150019083	chr5:108411348-108411349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147266994	chr5:108411367-108411368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559955222	chr5:108411373-108411374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528477837	chr5:108411389-108411390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200263176	chr5:108411401-108411402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553099328	chr5:108411403-108411404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180785029	chr5:108411412-108411413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542257292	chr5:108411414-108411415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140760951	chr5:108411425-108411426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558764932	chr5:108411442-108411443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572267437	chr5:108411447-108411448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542962057	chr5:108411470-108411471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534648457	chr5:108411481-108411482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557453922	chr5:108411511-108411512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554930736	chr5:108411521-108411522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186702837	chr5:108411559-108411560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114450436	chr5:108411569-108411570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556782977	chr5:108411635-108411636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576237747	chr5:108411660-108411661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147864248	chr5:108411685-108411686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545929920	chr5:108411687-108411688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115354931	chr5:108411695-108411696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527769168	chr5:108411773-108411774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576288251	chr5:108411802-108411803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530947706	chr5:108411813-108411814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376764762	chr5:108411833-108411834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567682635	chr5:108411854-108411855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541447691	chr5:108411861-108411862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Intellectual disability	21811512	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108360400-108425200	Weak transcription	Aorta	Aorta
2	chr5:108388800-108412000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:108405600-108415400	Weak transcription	Colon Smooth Muscle	Colon
4	chr5:108409600-108415400	Weak transcription	Fetal Intestine Small	intestine
5	chr5:108410200-108415400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:108410400-108441200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:108410600-108415000	Weak transcription	Fetal Heart	heart
8	chr5:108411000-108412400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:108412000-108412600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:108412400-108412800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:108413200-108416400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr5:108413800-108414000	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr5:108413800-108415200	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr5:108414000-108415400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:108415000-108416800	Enhancers	Fetal Heart	heart
16	chr5:108415200-108415600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr5:108415400-108415600	Enhancers	Colon Smooth Muscle	Colon
18	chr5:108415400-108416200	Enhancers	Fetal Intestine Small	intestine
19	chr5:108415400-108416400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:108415600-108416800	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr5:108415800-108416400	Enhancers	Duodenum Mucosa	Duodenum
22	chr5:108416200-108416600	Weak transcription	Fetal Intestine Small	intestine
23	chr5:108416200-108417000	Enhancers	HepG2	liver
24	chr5:108416400-108416600	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr5:108416400-108416800	Active TSS	Duodenum Mucosa	Duodenum
26	chr5:108416400-108416800	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr5:108416400-108441200	Weak transcription	HSMM	muscle
28	chr5:108416600-108416800	Enhancers	Fetal Intestine Small	intestine
29	chr5:108416600-108417200	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr5:108416800-108417000	Enhancers	Duodenum Mucosa	Duodenum
31	chr5:108416800-108425800	Weak transcription	Fetal Intestine Small	intestine
32	chr5:108417000-108419800	Weak transcription	HepG2	liver
33	chr5:108417200-108428400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr5:108417800-108418000	Enhancers	Gastric	stomach
35	chr5:108417800-108418000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr5:108418200-108426600	Weak transcription	Dnd41	blood
37	chr5:108418400-108427200	Weak transcription	Esophagus	oesophagus
38	chr5:108419400-108419600	Enhancers	Pancreas	Pancrea
39	chr5:108419600-108425600	Weak transcription	Pancreas	Pancrea
40	chr5:108421800-108422400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr5:108422000-108422600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr5:108422200-108422800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:108422200-108434400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:108422800-108426600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:108422800-108444800	Weak transcription	Left Ventricle	heart
46	chr5:108423400-108425200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr5:108423800-108428000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr5:108424000-108425600	Weak transcription	Fetal Stomach	stomach
49	chr5:108424000-108431400	Weak transcription	NHEK	skin
50	chr5:108424400-108425600	Weak transcription	Gastric	stomach

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