Variant report

Variant	esv3471970
Chromosome Location	chr6:167486262-167491260
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	chr6:167487932..167489942-chr6:167492963..167495055,2	K562	blood:

Extended variants
information (count: 143 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190435551	chr6:167486278-167486279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542357155	chr6:167486314-167486315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560648896	chr6:167486425-167486426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531257355	chr6:167486435-167486436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192991146	chr6:167486451-167486452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2001114	chr6:167486578-167486579	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs185237856	chr6:167486629-167486630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558283450	chr6:167486706-167486707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9347173	chr6:167486712-167486713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112437502	chr6:167486756-167486757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565972948	chr6:167486773-167486774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536637575	chr6:167486880-167486881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188805724	chr6:167486891-167486892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548747283	chr6:167486897-167486898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570174054	chr6:167486954-167486955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9459862	chr6:167487011-167487012	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs117504133	chr6:167487042-167487043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115583962	chr6:167487046-167487047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs204300	chr6:167487096-167487097	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs554027116	chr6:167487179-167487180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571757933	chr6:167487203-167487204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542220267	chr6:167487214-167487215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs137945406	chr6:167487255-167487256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77313666	chr6:167487262-167487263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543475395	chr6:167487284-167487285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565363846	chr6:167487334-167487335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35291016	chr6:167487377-167487378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs397750010	chr6:167487378-167487379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532723455	chr6:167487401-167487402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142493912	chr6:167487498-167487499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150530475	chr6:167487572-167487573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530370306	chr6:167487586-167487587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181353264	chr6:167487621-167487622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570038361	chr6:167487643-167487644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531056631	chr6:167487655-167487656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138414631	chr6:167487665-167487666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571393726	chr6:167487678-167487679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538826928	chr6:167487705-167487706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553642266	chr6:167487773-167487774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185578361	chr6:167487800-167487801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536104067	chr6:167487885-167487886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554163641	chr6:167487912-167487913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs75531164	chr6:167487919-167487920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543186374	chr6:167488000-167488001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558610603	chr6:167488007-167488008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377523939	chr6:167488043-167488044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201646222	chr6:167488071-167488072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531796472	chr6:167488185-167488186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188333243	chr6:167488275-167488276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs180700892	chr6:167488283-167488284	Weak transcription Enhancers	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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167485200-167487200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:167487000-167487400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:167487000-167487800	Enhancers	Primary B cells from cord blood	blood
4	chr6:167487000-167494400	Enhancers	Primary B cells from peripheral blood	blood
5	chr6:167487200-167487400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr6:167487200-167487600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:167487200-167487600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr6:167487200-167487600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:167487400-167489000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:167487400-167492600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:167487600-167489800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:167487600-167492400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:167487800-167488200	Weak transcription	Primary B cells from cord blood	blood
14	chr6:167488200-167488400	Enhancers	Primary B cells from cord blood	blood
15	chr6:167488400-167491000	Weak transcription	Primary B cells from cord blood	blood
16	chr6:167489000-167489200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:167489200-167492200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr6:167489800-167490200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:167490000-167490200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:167490000-167490600	Enhancers	HepG2	liver
21	chr6:167490000-167491400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:167490000-167492600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr6:167490200-167491400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:167490200-167495600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:167490400-167490600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:167490600-167490800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:167490600-167491000	Enhancers	HSMM	muscle
28	chr6:167490600-167491200	Flanking Bivalent TSS/Enh	HepG2	liver
29	chr6:167490600-167491400	Enhancers	Fetal Muscle Leg	muscle
30	chr6:167490800-167491400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr6:167491000-167492800	Enhancers	GM12878-XiMat	blood
32	chr6:167491000-167494400	Enhancers	Primary B cells from cord blood	blood
33	chr6:167491200-167491800	Flanking Active TSS	HepG2	liver

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