Variant report

Variant	nsv7973
Chromosome Location	chr6:143956245-143960024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:143959010..143961710-chr6:144384199..144386723,2	K562	blood:
2	chr6:143959369..143961139-chr6:144152997..144155782,2	K562	blood:
3	chr6:143949730..143952887-chr6:143954270..143956854,3	K562	blood:
4	chr6:143958411..143960649-chr6:143968320..143970149,2	K562	blood:

Variant related genes	Relation type
ENSG00000118495	chromatin interactions

Extended variants
information (count: 139 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547585534	chr6:143956256-143956257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576387629	chr6:143956305-143956306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543655931	chr6:143956307-143956308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369421522	chr6:143956312-143956313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565060736	chr6:143956320-143956321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138017140	chr6:143956337-143956338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185191489	chr6:143956348-143956349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560376847	chr6:143956354-143956355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371199436	chr6:143956385-143956386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143495083	chr6:143956397-143956398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548946233	chr6:143956440-143956441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142439823	chr6:143956454-143956455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75410461	chr6:143956483-143956484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530982462	chr6:143956485-143956486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553835650	chr6:143956487-143956488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370028192	chr6:143956585-143956586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531852168	chr6:143956596-143956597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs57949501	chr6:143956620-143956621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549999045	chr6:143956625-143956626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189877313	chr6:143956628-143956629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1970351	chr6:143956630-143956631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs547516074	chr6:143956721-143956722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74688053	chr6:143956723-143956724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536286714	chr6:143956744-143956745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182038448	chr6:143956746-143956747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576424462	chr6:143956749-143956750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537301802	chr6:143956767-143956768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185545364	chr6:143956774-143956775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73007264	chr6:143956791-143956792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577010666	chr6:143956804-143956805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147514924	chr6:143956805-143956806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560665683	chr6:143956817-143956818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572193720	chr6:143956895-143956896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1573054	chr6:143956906-143956907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs138292882	chr6:143956955-143956956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561454361	chr6:143957089-143957090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201760859	chr6:143957090-143957091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370633620	chr6:143957203-143957204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115474112	chr6:143957206-143957207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9390125	chr6:143957226-143957227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs35136474	chr6:143957227-143957228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190257593	chr6:143957243-143957244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532768586	chr6:143957253-143957254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11440383	chr6:143957265-143957266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs397704182	chr6:143957266-143957267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548756247	chr6:143957351-143957352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547659490	chr6:143957352-143957353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565795259	chr6:143957362-143957363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs397950323	chr6:143957366-143957367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529784815	chr6:143957385-143957386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143917000-143973600	Weak transcription	Fetal Intestine Small	intestine
2	chr6:143951200-143960200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:143954400-143958200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:143955000-143956600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:143955800-143967200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:143956000-143958600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:143956000-143963200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:143956000-143965000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:143956000-143967600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr6:143956000-143973800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:143956200-143958000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:143956200-143958600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:143956600-143960800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:143957800-143958200	Weak transcription	Right Atrium	heart
15	chr6:143958000-143958200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:143958000-143958400	Enhancers	Lung	lung
17	chr6:143958000-143958400	Enhancers	HUVEC	blood vessel
18	chr6:143958000-143959200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr6:143958200-143958600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:143958200-143959000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:143958200-143959200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr6:143958200-143959200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr6:143958200-143959200	Enhancers	Right Atrium	heart
24	chr6:143958600-143958800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr6:143958600-143958800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:143958600-143959000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr6:143958600-143959000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr6:143958600-143959000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr6:143958600-143959000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr6:143958600-143959000	Enhancers	Left Ventricle	heart
31	chr6:143958800-143960400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:143959000-143959200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr6:143959000-143965000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr6:143959000-143968800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr6:143959000-143978400	Weak transcription	Left Ventricle	heart
36	chr6:143959200-143964600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr6:143959200-143973800	Weak transcription	Right Atrium	heart

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