Variant report

Variant	nsv518663
Chromosome Location	chr5:107177381-107195824
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:107194483..107196871-chr5:107218196..107219851,2	K562	blood:
2	chr5:107190619..107191158-chr5:107428660..107429481,2	MCF-7	breast:
3	chr5:107172889..107174685-chr5:107177492..107179748,2	MCF-7	breast:

Extended variants
information (count: 417 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:417 , 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	rs4957724	chr5:107177381-107177382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536573746	chr5:107177397-107177398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370642181	chr5:107177424-107177425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112977166	chr5:107177430-107177431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11959432	chr5:107177431-107177432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs201034250	chr5:107177460-107177461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149808161	chr5:107177462-107177463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146810325	chr5:107177464-107177465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11953137	chr5:107177470-107177471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530354211	chr5:107177505-107177506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554858025	chr5:107177511-107177512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192601464	chr5:107177512-107177513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532531834	chr5:107177538-107177539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552299802	chr5:107177566-107177567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536634973	chr5:107177581-107177582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569288092	chr5:107177583-107177584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9328022	chr5:107177639-107177640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs114638692	chr5:107177684-107177685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367719852	chr5:107177707-107177708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567890827	chr5:107177730-107177731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184848091	chr5:107177757-107177758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140563520	chr5:107177760-107177761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11959523	chr5:107177775-107177776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576844382	chr5:107177789-107177790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188472189	chr5:107177798-107177799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555271684	chr5:107177860-107177861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555904807	chr5:107177939-107177940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576051813	chr5:107177964-107177965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541929546	chr5:107177990-107177991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11960202	chr5:107178012-107178013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371455225	chr5:107178037-107178038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145633620	chr5:107178045-107178046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs180690916	chr5:107178093-107178094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560799515	chr5:107178102-107178103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541643872	chr5:107178157-107178158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112751078	chr5:107178164-107178165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146759490	chr5:107178178-107178179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148891036	chr5:107178223-107178224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562757627	chr5:107178235-107178236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553164156	chr5:107178254-107178255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531630937	chr5:107178277-107178278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143563373	chr5:107178287-107178288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184810393	chr5:107178292-107178293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189710857	chr5:107178296-107178297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181816315	chr5:107178335-107178336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570695830	chr5:107178370-107178371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539365998	chr5:107178425-107178426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556453863	chr5:107178457-107178458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569738084	chr5:107178482-107178483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78961881	chr5:107178486-107178487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107168000-107180200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:107176600-107180200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:107180000-107180400	Enhancers	H9 Cell Line	embryonic stem cell
4	chr5:107180400-107180600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:107188800-107189000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:107188800-107189000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:107188800-107189000	Enhancers	Fetal Brain Male	brain
8	chr5:107188800-107189200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:107189000-107189800	Enhancers	HSMM	muscle
10	chr5:107189000-107189800	Enhancers	HSMMtube	muscle
11	chr5:107189000-107196800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:107189000-107204000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:107189000-107212200	Weak transcription	Fetal Brain Male	brain
14	chr5:107190200-107191600	Enhancers	NHDF-Ad	bronchial
15	chr5:107190800-107191000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:107190800-107191200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:107192800-107197200	Weak transcription	Primary T cells from cord blood	blood
18	chr5:107193600-107194000	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr5:107193600-107194400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr5:107193800-107196800	Weak transcription	Esophagus	oesophagus
21	chr5:107194000-107194400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:107194000-107219000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:107194400-107194600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr5:107194400-107196800	Weak transcription	Adipose Nuclei	Adipose
25	chr5:107194600-107195600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr5:107195200-107196800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr5:107195200-107196800	Weak transcription	Liver	Liver
28	chr5:107195200-107196800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr5:107195200-107196800	Weak transcription	Ovary	ovary
30	chr5:107195200-107197400	Weak transcription	Right Ventricle	heart
31	chr5:107195200-107214800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr5:107195400-107197400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:107195400-107197400	Weak transcription	Gastric	stomach
34	chr5:107195400-107204800	Weak transcription	Brain Anterior Caudate	brain
35	chr5:107195400-107205000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:107195400-107207600	Weak transcription	Spleen	Spleen
37	chr5:107195400-107208600	Weak transcription	Brain Hippocampus Middle	brain
38	chr5:107195400-107211600	Weak transcription	Aorta	Aorta
39	chr5:107195400-107214200	Weak transcription	Primary B cells from cord blood	blood
40	chr5:107195400-107215000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr5:107195400-107215000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr5:107195400-107217800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:107195400-107220000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr5:107195400-107223200	Weak transcription	Left Ventricle	heart
45	chr5:107195600-107195800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:107195600-107196200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr5:107195600-107196400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr5:107195600-107197400	Weak transcription	Pancreas	Pancrea
49	chr5:107195600-107204600	Weak transcription	Fetal Stomach	stomach
50	chr5:107195800-107196000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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