Variant report

Variant	nsv8001
Chromosome Location	chr6:167659407-167662148
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535425041	chr6:167659429-167659430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550749404	chr6:167659430-167659431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368494462	chr6:167659501-167659502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569664564	chr6:167659522-167659523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568964492	chr6:167659546-167659547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190764633	chr6:167659547-167659548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554969005	chr6:167659553-167659554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113531553	chr6:167659563-167659564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111399190	chr6:167659566-167659567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113387062	chr6:167659575-167659576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574263600	chr6:167659591-167659592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187426005	chr6:167659702-167659703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35686527	chr6:167659709-167659710	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs190315246	chr6:167659724-167659725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73269455	chr6:167659727-167659728	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs553248459	chr6:167659747-167659748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560193428	chr6:167659758-167659759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71995371	chr6:167659772-167659773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35253355	chr6:167659784-167659785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139200997	chr6:167659795-167659796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548956516	chr6:167659797-167659798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183118106	chr6:167659872-167659873	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6923566	chr6:167659877-167659878	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs187613438	chr6:167659932-167659933	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149893641	chr6:167659987-167659988	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9348247	chr6:167660024-167660025	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs539279238	chr6:167660076-167660077	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144899807	chr6:167660108-167660109	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563962058	chr6:167660109-167660110	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551258419	chr6:167660132-167660133	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77302821	chr6:167660136-167660137	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533911784	chr6:167660197-167660198	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115991419	chr6:167660204-167660205	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557904713	chr6:167660283-167660284	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192708762	chr6:167660301-167660302	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538490289	chr6:167660312-167660313	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541599423	chr6:167660327-167660328	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372052107	chr6:167660331-167660332	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184069636	chr6:167660349-167660350	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576040286	chr6:167660377-167660378	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs578101353	chr6:167660403-167660404	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs187706432	chr6:167660410-167660411	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs73787995	chr6:167660442-167660443	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs113479734	chr6:167660459-167660460	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs149605641	chr6:167660468-167660469	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs563380693	chr6:167660509-167660510	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs112085031	chr6:167660511-167660512	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs572204108	chr6:167660520-167660521	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs35480315	chr6:167660542-167660543	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs563378086	chr6:167660545-167660546	Weak transcription Enhancers Genic enhancers ZNF genes & repeats	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
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
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
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167654800-167664800	Weak transcription	Right Atrium	heart
2	chr6:167655200-167660000	Enhancers	Fetal Brain Male	brain
3	chr6:167655600-167660600	Enhancers	Fetal Muscle Leg	muscle
4	chr6:167656800-167661000	Weak transcription	Fetal Intestine Small	intestine
5	chr6:167657200-167660200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr6:167657200-167660200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:167657400-167660000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr6:167658000-167662200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:167658200-167660400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:167658200-167660600	Enhancers	Fetal Brain Female	brain
11	chr6:167658400-167661200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:167658600-167660400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr6:167658600-167661200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:167659000-167659800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr6:167659000-167660000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr6:167659000-167660000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr6:167659000-167660200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr6:167659000-167661200	Weak transcription	HepG2	liver
19	chr6:167659200-167659800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr6:167659200-167661200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:167659400-167660000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr6:167659400-167660000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:167659800-167660200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
24	chr6:167659800-167660600	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr6:167660000-167660400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr6:167660000-167660400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:167660000-167660400	Weak transcription	Fetal Brain Male	brain
28	chr6:167660000-167661000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr6:167660000-167661200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr6:167660000-167661600	Genic enhancers	H9 Cell Line	embryonic stem cell
31	chr6:167660200-167660400	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr6:167660200-167660800	Genic enhancers	H1 Cell Line	embryonic stem cell
33	chr6:167660200-167661200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr6:167660200-167661200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:167660400-167660600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr6:167660400-167660600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
37	chr6:167660400-167660600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:167660400-167660600	Enhancers	Fetal Brain Male	brain
39	chr6:167660400-167660800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
40	chr6:167660400-167660800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr6:167660600-167660800	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr6:167660600-167661000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr6:167660600-167661200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr6:167660600-167661200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:167660600-167662200	Weak transcription	Fetal Brain Male	brain
46	chr6:167660800-167661200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr6:167660800-167661200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr6:167660800-167662800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr6:167660800-167663800	Enhancers	H1 Cell Line	embryonic stem cell
50	chr6:167661000-167662800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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