Variant report

Variant	esv3474378
Chromosome Location	chr6:167543014-167544431
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167530415..167533348-chr6:167542772..167545436,2	K562	blood:
2	chr6:167543795..167547055-chr6:167549259..167552787,3	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563026393	chr6:167543076-167543077	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10214916	chr6:167543084-167543085	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs545896996	chr6:167543094-167543095	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551978582	chr6:167543097-167543098	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553973181	chr6:167543175-167543176	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567088748	chr6:167543190-167543191	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534240968	chr6:167543202-167543203	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183403686	chr6:167543230-167543231	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567791678	chr6:167543265-167543266	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs41513348	chr6:167543282-167543283	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs150590472	chr6:167543299-167543300	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs3798314	chr6:167543310-167543311	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35345474	chr6:167543315-167543316	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs41412749	chr6:167543383-167543384	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569034215	chr6:167543431-167543432	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs139609431	chr6:167543457-167543458	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs188412751	chr6:167543486-167543487	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs372318350	chr6:167543503-167543504	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs572705022	chr6:167543590-167543591	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs374689522	chr6:167543616-167543617	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540084918	chr6:167543634-167543635	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs367740039	chr6:167543655-167543656	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35272021	chr6:167543664-167543665	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573716813	chr6:167543670-167543671	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142873513	chr6:167543710-167543711	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147411644	chr6:167543730-167543731	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377315929	chr6:167543745-167543746	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545721990	chr6:167543797-167543798	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564194383	chr6:167543821-167543822	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139659339	chr6:167543838-167543839	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs41463845	chr6:167543842-167543843	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs549641626	chr6:167543851-167543852	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567640277	chr6:167543884-167543885	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531909215	chr6:167543985-167543986	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544042071	chr6:167543989-167543990	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs41446644	chr6:167544002-167544003	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs571631975	chr6:167544047-167544048	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147577660	chr6:167544074-167544075	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557626754	chr6:167544080-167544081	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148612319	chr6:167544132-167544133	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533721675	chr6:167544201-167544202	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142045944	chr6:167544214-167544215	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11575078	chr6:167544278-167544279	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs573624600	chr6:167544325-167544326	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34015285	chr6:167544326-167544327	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555843174	chr6:167544355-167544356	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11575079	chr6:167544398-167544399	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369564929	chr6:167544401-167544402	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577717851	chr6:167544412-167544413	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76684877	chr6:167544417-167544418	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167530200-167543200	Weak transcription	Spleen	Spleen
2	chr6:167534000-167573400	Weak transcription	Right Atrium	heart
3	chr6:167535600-167554000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:167537000-167546000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:167538000-167546800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr6:167539000-167548200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:167539200-167547600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr6:167539600-167550400	Genic enhancers	Primary B cells from peripheral blood	blood
9	chr6:167540200-167545400	Genic enhancers	Primary B cells from cord blood	blood
10	chr6:167540800-167543400	Enhancers	GM12878-XiMat	blood
11	chr6:167541400-167543400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:167541800-167543200	Weak transcription	HepG2	liver
13	chr6:167541800-167543600	Enhancers	Placenta Amnion	Placenta Amnion
14	chr6:167541800-167550000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr6:167542000-167547800	Weak transcription	Fetal Intestine Small	intestine
16	chr6:167542000-167554000	Weak transcription	Fetal Intestine Large	intestine
17	chr6:167542400-167543400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr6:167542400-167544200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr6:167542400-167546400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:167542600-167544200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr6:167542600-167545200	Enhancers	Primary T cells fromperipheralblood	blood
22	chr6:167542600-167546000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:167542800-167543400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:167542800-167544400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr6:167543000-167543800	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr6:167543200-167543400	Enhancers	Spleen	Spleen
27	chr6:167543200-167543800	Genic enhancers	HepG2	liver
28	chr6:167543400-167543600	Flanking Active TSS	GM12878-XiMat	blood
29	chr6:167543400-167543800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr6:167543400-167544800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:167543400-167545400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr6:167543400-167548000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:167543400-167565000	Weak transcription	Spleen	Spleen
34	chr6:167543600-167545200	Enhancers	GM12878-XiMat	blood
35	chr6:167543600-167549800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr6:167543800-167544800	Enhancers	HepG2	liver
37	chr6:167544200-167544400	Enhancers	Rectal Smooth Muscle	rectum
38	chr6:167544200-167545200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr6:167544200-167555000	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr6:167544400-167545200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr6:167544400-167554400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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