Variant report

Variant	nsv603164
Chromosome Location	chr6:55631762-55674338
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:55668603..55669259-chr8:114927462..114928176,2	MCF-7	breast:
2	chr6:55623116..55625818-chr6:55638380..55641256,2	MCF-7	breast:

Extended variants
information (count: 1518 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1518 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs228144	chr6:55631762-55631763	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567321208	chr6:55631770-55631771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568074130	chr6:55631811-55631812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553064859	chr6:55631852-55631853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566574633	chr6:55631874-55631875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374395280	chr6:55631905-55631906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558308552	chr6:55631911-55631912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs578184503	chr6:55631918-55631919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34700126	chr6:55631955-55631956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543784432	chr6:55631963-55631964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78620707	chr6:55632046-55632047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574116042	chr6:55632047-55632048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs228145	chr6:55632077-55632078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs141887062	chr6:55632096-55632097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146265987	chr6:55632164-55632165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201461506	chr6:55632174-55632175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112072102	chr6:55632180-55632181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543648583	chr6:55632184-55632185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544989927	chr6:55632224-55632225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139184225	chr6:55632328-55632329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs36066543	chr6:55632385-55632386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199796193	chr6:55632388-55632389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397829019	chr6:55632389-55632390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370083271	chr6:55632435-55632436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185601446	chr6:55632439-55632440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149934919	chr6:55632473-55632474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550567905	chr6:55632496-55632497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561247375	chr6:55632502-55632503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190658346	chr6:55632543-55632544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542210631	chr6:55632552-55632553	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546862393	chr6:55632590-55632591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566563065	chr6:55632610-55632611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374096111	chr6:55632641-55632642	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76511601	chr6:55632673-55632674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538771909	chr6:55632710-55632711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367996715	chr6:55632820-55632821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552127046	chr6:55632902-55632903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372061459	chr6:55632933-55632934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56750083	chr6:55632968-55632969	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs533816461	chr6:55633013-55633014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537862000	chr6:55633021-55633022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557327905	chr6:55633022-55633023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554047761	chr6:55633048-55633049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536440184	chr6:55633130-55633131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576921258	chr6:55633179-55633180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375060111	chr6:55633196-55633197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376995667	chr6:55633224-55633225	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183260981	chr6:55633272-55633273	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565395185	chr6:55633282-55633283	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188629055	chr6:55633287-55633288	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55618200-55672400	Weak transcription	Placenta	Placenta
2	chr6:55624600-55637200	Weak transcription	Hela-S3	cervix
3	chr6:55625400-55646600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:55626600-55634800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:55626800-55632200	Weak transcription	Fetal Lung	lung
6	chr6:55629000-55637200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:55631400-55631800	Enhancers	Fetal Heart	heart
8	chr6:55631800-55633200	Weak transcription	Fetal Heart	heart
9	chr6:55632200-55636600	Strong transcription	Fetal Lung	lung
10	chr6:55633200-55633400	Enhancers	Fetal Heart	heart
11	chr6:55633400-55633600	Genic enhancers	Fetal Heart	heart
12	chr6:55633600-55638200	Weak transcription	Fetal Heart	heart
13	chr6:55634800-55639000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:55636600-55638600	Weak transcription	Fetal Lung	lung
15	chr6:55637200-55639000	Enhancers	Hela-S3	cervix
16	chr6:55637200-55639800	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr6:55638200-55639000	Genic enhancers	Fetal Heart	heart
18	chr6:55638600-55639000	Genic enhancers	Fetal Lung	lung
19	chr6:55638800-55640000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr6:55638800-55640000	Enhancers	H9 Cell Line	embryonic stem cell
21	chr6:55638800-55640000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:55639000-55639400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr6:55639000-55639600	Weak transcription	Fetal Heart	heart
24	chr6:55639000-55639600	Weak transcription	Hela-S3	cervix
25	chr6:55639000-55640000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr6:55639000-55640000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr6:55639000-55641400	Enhancers	Fetal Lung	lung
28	chr6:55639000-55646800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:55639200-55640000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr6:55639400-55639800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr6:55639400-55640000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr6:55639400-55640000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr6:55639400-55640000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr6:55639600-55640000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr6:55639600-55640000	Enhancers	Hela-S3	cervix
36	chr6:55639600-55641000	Enhancers	Fetal Heart	heart
37	chr6:55640000-55647200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr6:55640400-55641200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr6:55640600-55641200	Active TSS	Aorta	Aorta
40	chr6:55641000-55653200	Weak transcription	Fetal Heart	heart
41	chr6:55641400-55642600	Weak transcription	Fetal Lung	lung
42	chr6:55641800-55644000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:55642000-55643200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr6:55642200-55642800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:55642200-55642800	Enhancers	Osteobl	bone
46	chr6:55642600-55643000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:55642600-55643000	Enhancers	Fetal Lung	lung
48	chr6:55642600-55643200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:55643000-55655000	Weak transcription	Fetal Lung	lung
50	chr6:55643200-55659000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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