Variant report

Variant	esv3389542
Chromosome Location	chr6:167536262-167540560
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	chr6:167536255..167537788-chr6:167539934..167541454,2	K562	blood:

Variant related genes	Relation type
ENSG00000112486	chromatin interactions

Extended variants
information (count: 157 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:157 , 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	rs557768966	chr6:167536264-167536265	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs554718788	chr6:167536269-167536270	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs572842840	chr6:167536317-167536318	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs17860846	chr6:167536343-167536344	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs561574838	chr6:167536346-167536347	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs182554950	chr6:167536373-167536374	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs543921510	chr6:167536433-167536434	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs17860847	chr6:167536463-167536464	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs41404849	chr6:167536464-167536465	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs551405333	chr6:167536475-167536476	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs56371516	chr6:167536479-167536480	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs560611376	chr6:167536493-167536494	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs35543089	chr6:167536549-167536550	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs528022568	chr6:167536636-167536637	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs549574537	chr6:167536708-167536709	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs41448347	chr6:167536795-167536796	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs538307571	chr6:167536854-167536855	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs186560345	chr6:167536921-167536922	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs41450452	chr6:167536930-167536931	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs538652648	chr6:167537065-167537066	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs146921347	chr6:167537135-167537136	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs113237704	chr6:167537148-167537149	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs572781308	chr6:167537197-167537198	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs533858812	chr6:167537253-167537254	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199516947	chr6:167537281-167537282	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529727690	chr6:167537353-167537354	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs137887830	chr6:167537358-167537359	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573512938	chr6:167537369-167537370	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190950128	chr6:167537373-167537374	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544251395	chr6:167537381-167537382	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571341730	chr6:167537386-167537387	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183285850	chr6:167537398-167537399	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs41462547	chr6:167537415-167537416	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544660041	chr6:167537429-167537430	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192823844	chr6:167537520-167537521	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1855025	chr6:167537594-167537595	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs149225519	chr6:167537599-167537600	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561425528	chr6:167537626-167537627	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531944492	chr6:167537668-167537669	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550396452	chr6:167537686-167537687	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116149206	chr6:167537736-167537737	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200505068	chr6:167537752-167537753	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10683579	chr6:167537753-167537754	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs59466457	chr6:167537754-167537755	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs532667336	chr6:167537763-167537764	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547448880	chr6:167537805-167537806	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs200900530	chr6:167537820-167537821	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs183294696	chr6:167537832-167537833	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs113085122	chr6:167537876-167537877	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs567273125	chr6:167537894-167537895	Weak transcription Active TSS Enhancers Flanking Active TSS	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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167530200-167543200	Weak transcription	Spleen	Spleen
2	chr6:167530400-167538200	Weak transcription	Gastric	stomach
3	chr6:167530800-167542800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:167531400-167536400	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr6:167532800-167536400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:167532800-167536600	Weak transcription	Colonic Mucosa	Colon
7	chr6:167533200-167536400	Enhancers	Fetal Intestine Large	intestine
8	chr6:167533200-167536400	Enhancers	Fetal Intestine Small	intestine
9	chr6:167533400-167536600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr6:167533800-167537200	Flanking Active TSS	Primary B cells from peripheral blood	blood
11	chr6:167534000-167537200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:167534000-167573400	Weak transcription	Right Atrium	heart
13	chr6:167534400-167537800	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr6:167534800-167538800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr6:167534800-167539000	Flanking Active TSS	GM12878-XiMat	blood
16	chr6:167535000-167537000	Enhancers	Fetal Thymus	thymus
17	chr6:167535200-167536400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:167535200-167536400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:167535200-167537600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:167535400-167537000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr6:167535600-167537200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr6:167535600-167537400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr6:167535600-167554000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:167535800-167536800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr6:167535800-167537000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:167535800-167537000	Enhancers	Stomach Mucosa	stomach
27	chr6:167536000-167536400	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr6:167536000-167536400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:167536000-167536400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr6:167536000-167537000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr6:167536000-167537000	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr6:167536000-167537000	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr6:167536000-167538000	Flanking Active TSS	HepG2	liver
34	chr6:167536200-167536600	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr6:167536200-167536800	Enhancers	Liver	Liver
36	chr6:167536200-167537200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr6:167536200-167538600	Active TSS	Rectal Smooth Muscle	rectum
38	chr6:167536200-167539200	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr6:167536200-167539800	Enhancers	Primary hematopoietic stem cells	blood
40	chr6:167536400-167536600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr6:167536400-167536600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr6:167536400-167536600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr6:167536400-167537000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr6:167536400-167537400	Flanking Active TSS	Fetal Intestine Large	intestine
45	chr6:167536400-167537400	Flanking Active TSS	Fetal Intestine Small	intestine
46	chr6:167536400-167539200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:167536400-167539200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:167536600-167536800	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr6:167536600-167537000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr6:167536600-167537000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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