Variant report

Variant	esv3444664
Chromosome Location	chr6:161209412-161212260
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 152 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529490509	chr6:161209469-161209470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181840416	chr6:161209471-161209472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567687036	chr6:161209472-161209473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566284169	chr6:161209502-161209503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535284997	chr6:161209503-161209504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142233916	chr6:161209540-161209541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565946109	chr6:161209574-161209575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537560011	chr6:161209640-161209641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557526400	chr6:161209646-161209647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574060269	chr6:161209692-161209693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs386707857	chr6:161209716-161209717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9458029	chr6:161209717-161209718	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs80262706	chr6:161209736-161209737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540897423	chr6:161209737-161209738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563752689	chr6:161209818-161209819	Enhancers Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs577251992	chr6:161209850-161209851	Enhancers Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs568401134	chr6:161209892-161209893	Enhancers Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs137961989	chr6:161209919-161209920	Enhancers Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs370890407	chr6:161209924-161209925	Enhancers Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs537321933	chr6:161209933-161209934	Enhancers Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs186853793	chr6:161209950-161209951	Enhancers Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs113424069	chr6:161209953-161209954	Enhancers Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs9458030	chr6:161209985-161209986	Enhancers Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs368925768	chr6:161210012-161210013	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs73784966	chr6:161210066-161210067	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs9458031	chr6:161210119-161210120	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs571577883	chr6:161210130-161210131	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs537472430	chr6:161210135-161210136	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs73784967	chr6:161210180-161210181	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs539169493	chr6:161210185-161210186	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs9458032	chr6:161210205-161210206	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs536701563	chr6:161210217-161210218	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs71033596	chr6:161210226-161210227	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs199549900	chr6:161210240-161210241	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs1652454	chr6:161210256-161210257	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs111664474	chr6:161210257-161210258	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs13192114	chr6:161210258-161210259	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs13192211	chr6:161210266-161210267	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs113298425	chr6:161210304-161210305	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs557657230	chr6:161210312-161210313	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs111829890	chr6:161210319-161210320	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs111864380	chr6:161210320-161210321	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs1652455	chr6:161210349-161210350	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs11758404	chr6:161210455-161210456	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs1740432	chr6:161210470-161210471	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs573658525	chr6:161210479-161210480	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs6901797	chr6:161210483-161210484	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs370897911	chr6:161210487-161210488	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs192008998	chr6:161210501-161210502	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs559713586	chr6:161210516-161210517	Weak transcription 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
Renal cell carcinoma	18592004	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
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161207600-161210000	Enhancers	NHEK	skin
2	chr6:161207800-161209800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:161208000-161211200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr6:161208200-161211200	Weak transcription	K562	blood
5	chr6:161209000-161212400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:161209200-161211000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:161209200-161211200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:161209400-161209800	Weak transcription	HMEC	breast
9	chr6:161209600-161210000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr6:161209800-161210000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:161209800-161210000	Enhancers	HMEC	breast
12	chr6:161209800-161210200	Active TSS	Esophagus	oesophagus
13	chr6:161209800-161211400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:161209800-161211800	ZNF genes & repeats	GM12878-XiMat	blood
15	chr6:161210000-161211200	Weak transcription	NHEK	skin
16	chr6:161210000-161212400	Weak transcription	HMEC	breast
17	chr6:161210200-161211000	Weak transcription	Esophagus	oesophagus
18	chr6:161210200-161211400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:161210800-161211600	Enhancers	Primary B cells from peripheral blood	blood
20	chr6:161211000-161211600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:161211000-161211600	Active TSS	Esophagus	oesophagus
22	chr6:161211200-161211600	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr6:161211200-161211600	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr6:161211200-161211600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:161211200-161211600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:161211200-161211600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:161211200-161211600	Active TSS	Muscle Satellite Cultured Cells	--
28	chr6:161211200-161211600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:161211200-161211600	Active TSS	Colonic Mucosa	Colon
30	chr6:161211200-161211600	Enhancers	Placenta	Placenta
31	chr6:161211200-161211600	Enhancers	Stomach Mucosa	stomach
32	chr6:161211200-161211600	Active TSS	Osteobl	bone
33	chr6:161211200-161211800	Active TSS	H9 Cell Line	embryonic stem cell
34	chr6:161211200-161211800	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr6:161211200-161211800	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr6:161211200-161211800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:161211200-161212400	Active TSS	K562	blood
38	chr6:161211200-161212600	Enhancers	NHEK	skin
39	chr6:161211400-161211600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:161211400-161211600	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr6:161211400-161211600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:161211400-161211800	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr6:161211400-161211800	Active TSS	H1 Cell Line	embryonic stem cell
44	chr6:161211400-161211800	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr6:161211400-161212400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:161211600-161211800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:161211600-161211800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr6:161211600-161211800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr6:161211600-161211800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr6:161211600-161211800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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