Variant report

Variant	nsv886731
Chromosome Location	chr6:142287143-142364628
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:142310115..142310645-chr6:142364498..142365481,2	MCF-7	breast:
2	chr6:142309853..142311057-chr6:142366249..142367364,12	MCF-7	breast:
3	chr6:142301363..142303656-chr6:142306622..142308997,2	MCF-7	breast:
4	chr6:142310160..142310940-chr6:142392407..142393314,2	MCF-7	breast:
5	chr6:142310139..142312531-chr6:142319798..142322173,2	K562	blood:
6	chr6:141998651..141999214-chr6:142310161..142310947,2	MCF-7	breast:
7	chr6:142299018..142301921-chr6:142303964..142305930,3	K562	blood:
8	chr6:142310115..142310645-chr6:142364498..142365481,2	MCF-7	breast:
9	chr6:142342024..142345729-chr6:142348880..142352239,3	K562	blood:
10	chr6:142311068..142312761-chr6:142315282..142317322,2	K562	blood:
11	chr6:142310081..142310988-chr6:142433318..142434235,4	K562	blood:
12	chr6:142342024..142345729-chr6:142348880..142352239,3	K562	blood:
13	chr6:142301363..142303656-chr6:142306622..142308997,2	MCF-7	breast:
14	chr6:142329102..142331805-chr7:35011843..35013358,2	MCF-7	breast:
15	chr6:142331145..142333500-chr6:142346672..142348652,2	K562	blood:
16	chr6:142310166..142311225-chr6:142433178..142434296,3	MCF-7	breast:
17	chr6:142310101..142311090-chr6:142528288..142529452,4	K562	blood:
18	chr6:142311068..142312761-chr6:142315282..142317322,2	K562	blood:
19	chr6:142310139..142312531-chr6:142319798..142322173,2	K562	blood:
20	chr6:142331145..142333500-chr6:142346672..142348652,2	K562	blood:
21	chr6:142345393..142347515-chr6:142353520..142355700,2	K562	blood:
22	chr6:142345393..142347515-chr6:142353520..142355700,2	K562	blood:
23	chr6:142299018..142301921-chr6:142303964..142305930,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173852	chromatin interactions

Extended variants
information (count: 2596 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2596 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9484579	chr6:142287143-142287144	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532438273	chr6:142287169-142287170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112596574	chr6:142287170-142287171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111996576	chr6:142287173-142287174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141506988	chr6:142287178-142287179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373704634	chr6:142287190-142287191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569629930	chr6:142287228-142287229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183719606	chr6:142287240-142287241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558259457	chr6:142287248-142287249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188842924	chr6:142287249-142287250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541281974	chr6:142287255-142287256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572702076	chr6:142287277-142287278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541592192	chr6:142287284-142287285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553174511	chr6:142287319-142287320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574660467	chr6:142287351-142287352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75761267	chr6:142287365-142287366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560202797	chr6:142287373-142287374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113382952	chr6:142287378-142287379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370050867	chr6:142287379-142287380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74489570	chr6:142287388-142287389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546217892	chr6:142287398-142287399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112063933	chr6:142287407-142287408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116331087	chr6:142287442-142287443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191778922	chr6:142287452-142287453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547685299	chr6:142287458-142287459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559603982	chr6:142287495-142287496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138305559	chr6:142287515-142287516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548080268	chr6:142287516-142287517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569773710	chr6:142287522-142287523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536707534	chr6:142287525-142287526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369650391	chr6:142287531-142287532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144141546	chr6:142287561-142287562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79290023	chr6:142287574-142287575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565331220	chr6:142287628-142287629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570089702	chr6:142287630-142287631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11967913	chr6:142287641-142287642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372247862	chr6:142287650-142287651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574768486	chr6:142287659-142287660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184705736	chr6:142287724-142287725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369182222	chr6:142287748-142287749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140745393	chr6:142287756-142287757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545929443	chr6:142287776-142287777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562371411	chr6:142287798-142287799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190036586	chr6:142287831-142287832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144630602	chr6:142287833-142287834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144716182	chr6:142287841-142287842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181662479	chr6:142287842-142287843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187306088	chr6:142287844-142287845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548375622	chr6:142287889-142287890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189244792	chr6:142287922-142287923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Gastric cancer	17908304	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
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
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Burkitt''s lymphoma	19759907	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:464 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142284400-142287600	Enhancers	Placenta Amnion	Placenta Amnion
2	chr6:142284400-142292000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:142285800-142287400	Enhancers	Fetal Heart	heart
4	chr6:142287400-142289800	Weak transcription	Fetal Heart	heart
5	chr6:142289400-142289600	Enhancers	Liver	Liver
6	chr6:142289600-142290600	Flanking Active TSS	Liver	Liver
7	chr6:142289800-142290400	Enhancers	Fetal Heart	heart
8	chr6:142290200-142290400	Enhancers	Hela-S3	cervix
9	chr6:142290400-142291200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr6:142290400-142291200	Active TSS	Hela-S3	cervix
11	chr6:142290600-142290800	Enhancers	Liver	Liver
12	chr6:142290800-142291000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:142290800-142291200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr6:142291600-142291800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:142301800-142302000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:142302400-142302600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr6:142302600-142302800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:142302600-142302800	Enhancers	H9 Cell Line	embryonic stem cell
19	chr6:142302600-142304800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:142302800-142310600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr6:142304600-142304800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:142304800-142305000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr6:142304800-142306200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr6:142304800-142316000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:142305000-142305800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr6:142305000-142306000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr6:142305600-142305800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr6:142305600-142306000	Enhancers	Fetal Heart	heart
29	chr6:142305800-142306000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr6:142305800-142306000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr6:142305800-142306200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr6:142306000-142306200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr6:142306000-142307600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr6:142306000-142310200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr6:142306200-142310200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr6:142306200-142310400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr6:142307600-142308000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr6:142307800-142308000	Enhancers	Pancreas	Pancrea
39	chr6:142307800-142309000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr6:142307800-142309200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr6:142307800-142309800	Enhancers	Liver	Liver
42	chr6:142308000-142310200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr6:142309000-142309200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:142309000-142310200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:142309200-142310000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr6:142309200-142310200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:142309800-142310600	Flanking Active TSS	Liver	Liver
48	chr6:142310000-142310200	Enhancers	NHDF-Ad	bronchial
49	chr6:142310000-142312200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr6:142310000-142312200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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