Variant report

Variant	nsv966638
Chromosome Location	chr6:38353527-38361086
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:38354681..38357070-chr6:38359455..38361170,2	K562	blood:
2	chr6:38354681..38357070-chr6:38359455..38361170,2	K562	blood:
3	chr6:38357729..38359260-chr6:38373840..38376265,2	MCF-7	breast:
4	chr6:38351204..38353716-chr6:38356621..38358172,2	MCF-7	breast:
5	chr6:38277946..38279644-chr6:38359626..38361266,2	MCF-7	breast:
6	chr6:38351204..38353716-chr6:38356621..38358172,2	MCF-7	breast:

Extended variants
information (count: 272 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146104330	chr6:38353542-38353543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34019950	chr6:38353570-38353571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs66512937	chr6:38353571-38353572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs60555157	chr6:38353588-38353589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573480175	chr6:38353664-38353665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138947420	chr6:38353669-38353670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141130147	chr6:38353735-38353736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150298634	chr6:38353747-38353748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543591213	chr6:38353810-38353811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563364390	chr6:38353862-38353863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576947037	chr6:38353873-38353874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs80017837	chr6:38353978-38353979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs16890616	chr6:38354022-38354023	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs546186472	chr6:38354071-38354072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528389093	chr6:38354129-38354130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376054246	chr6:38354141-38354142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376103637	chr6:38354162-38354163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182886787	chr6:38354188-38354189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7746501	chr6:38354242-38354243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs530614835	chr6:38354245-38354246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs16890621	chr6:38354306-38354307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs11423572	chr6:38354406-38354407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs66882098	chr6:38354407-38354408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72474336	chr6:38354428-38354429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570590782	chr6:38354434-38354435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533437619	chr6:38354437-38354438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542318831	chr6:38354462-38354463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111378925	chr6:38354505-38354506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566820624	chr6:38354506-38354507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113867657	chr6:38354509-38354510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190163253	chr6:38354537-38354538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569514156	chr6:38354602-38354603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538424258	chr6:38354603-38354604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557118384	chr6:38354605-38354606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577032386	chr6:38354607-38354608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545846861	chr6:38354609-38354610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552702812	chr6:38354610-38354611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201826215	chr6:38354611-38354612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149492438	chr6:38354616-38354617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9470865	chr6:38354624-38354625	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs561637953	chr6:38354625-38354626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182110821	chr6:38354709-38354710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373335957	chr6:38354746-38354747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112431413	chr6:38354787-38354788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544025000	chr6:38354865-38354866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146114347	chr6:38354875-38354876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140113797	chr6:38354906-38354907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374289296	chr6:38355012-38355013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547027532	chr6:38355089-38355090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566802514	chr6:38355125-38355126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
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
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	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
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	21693616	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Breast cancer	16397240	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38343000-38367800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:38343400-38354600	Weak transcription	NHDF-Ad	bronchial
3	chr6:38350200-38366200	Weak transcription	Lung	lung
4	chr6:38351800-38356000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:38352800-38355400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:38353000-38355400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:38354000-38376000	Weak transcription	Primary T cells from cord blood	blood
8	chr6:38354600-38355400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:38354600-38356800	Enhancers	NHDF-Ad	bronchial
10	chr6:38354800-38370800	Weak transcription	Primary B cells from cord blood	blood
11	chr6:38355400-38355800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:38355400-38355800	Enhancers	NHLF	lung
13	chr6:38355400-38356400	Enhancers	Adipose Nuclei	Adipose
14	chr6:38355400-38356800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:38355400-38357400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:38355600-38356400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:38355600-38356400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:38355600-38356400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr6:38355800-38356400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:38355800-38358800	Weak transcription	NHLF	lung
21	chr6:38356000-38356200	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr6:38356000-38356400	Enhancers	Fetal Kidney	kidney
23	chr6:38356200-38356600	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr6:38356400-38358800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:38356400-38358800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr6:38356400-38358800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:38356400-38359400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:38356400-38359600	Weak transcription	Adipose Nuclei	Adipose
29	chr6:38356600-38357000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr6:38356600-38359600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:38356800-38357400	Enhancers	GM12878-XiMat	blood
32	chr6:38356800-38358800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:38356800-38358800	Weak transcription	NHDF-Ad	bronchial
34	chr6:38357000-38357200	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr6:38357200-38357400	Enhancers	Psoas Muscle	Psoas
36	chr6:38357200-38357400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr6:38357200-38358800	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr6:38357400-38358400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr6:38357400-38358800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:38357600-38359400	Weak transcription	Psoas Muscle	Psoas
41	chr6:38358400-38359800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr6:38358400-38360400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr6:38358400-38361200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr6:38358600-38360200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:38358600-38360400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr6:38358600-38360800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr6:38358800-38359000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr6:38358800-38359000	Enhancers	HSMM	muscle
49	chr6:38358800-38359400	Enhancers	Muscle Satellite Cultured Cells	--
50	chr6:38358800-38359800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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