Variant report

Variant	esv3354348
Chromosome Location	chr6:119009759-119013957
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119012354..119023494-chr6:119027532..119033557,15	K562	blood:
2	chr6:118990170..118992293-chr6:119012694..119014681,2	K562	blood:
3	chr6:119013493..119017016-chr6:119017311..119020424,5	K562	blood:

Variant related genes	Relation type
ENSG00000111860	chromatin interactions

Extended variants
information (count: 156 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:156 , 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	rs576839863	chr6:119009768-119009769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565933683	chr6:119009842-119009843	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186276722	chr6:119009845-119009846	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114360760	chr6:119009893-119009894	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6911599	chr6:119009913-119009914	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536757945	chr6:119009924-119009925	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58955968	chr6:119009944-119009945	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs189684710	chr6:119010024-119010025	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs58013344	chr6:119010025-119010026	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530855973	chr6:119010031-119010032	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182655662	chr6:119010032-119010033	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555233810	chr6:119010040-119010041	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2798329	chr6:119010065-119010066	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs185387580	chr6:119010079-119010080	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2638533	chr6:119010106-119010107	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs556074731	chr6:119010123-119010124	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62423966	chr6:119010144-119010145	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs544655243	chr6:119010169-119010170	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190592838	chr6:119010198-119010199	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183545842	chr6:119010199-119010200	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116762952	chr6:119010269-119010270	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556665614	chr6:119010293-119010294	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62423967	chr6:119010336-119010337	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs545490258	chr6:119010340-119010341	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558975347	chr6:119010437-119010438	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147139925	chr6:119010444-119010445	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572613611	chr6:119010445-119010446	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541002257	chr6:119010458-119010459	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147427223	chr6:119010479-119010480	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542723816	chr6:119010507-119010508	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs62423968	chr6:119010514-119010515	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs73768523	chr6:119010526-119010527	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs573444434	chr6:119010557-119010558	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188823735	chr6:119010585-119010586	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs62423969	chr6:119010597-119010598	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs533308771	chr6:119010618-119010619	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369489881	chr6:119010635-119010636	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs117910275	chr6:119010746-119010747	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs193297226	chr6:119010837-119010838	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529431418	chr6:119010869-119010870	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs62423970	chr6:119010901-119010902	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs569471546	chr6:119010904-119010905	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538149736	chr6:119010936-119010937	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183815735	chr6:119010954-119010955	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564056697	chr6:119010959-119010960	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs62423993	chr6:119010967-119010968	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs377245444	chr6:119011079-119011080	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34964907	chr6:119011080-119011081	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539007238	chr6:119011081-119011082	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534461197	chr6:119011095-119011096	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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
Ependymoma	16718352	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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118990600-119025400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr6:118999600-119015600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr6:118999600-119021600	Weak transcription	Thymus	Thymus
4	chr6:119001000-119026000	Weak transcription	NH-A	brain
5	chr6:119001400-119009800	Weak transcription	Fetal Thymus	thymus
6	chr6:119002000-119017400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:119002200-119026600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:119002400-119014600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr6:119004000-119026600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:119005000-119016000	Weak transcription	Primary B cells from cord blood	blood
11	chr6:119005600-119015800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr6:119005600-119016000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr6:119005800-119014800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:119007400-119013400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr6:119007400-119018000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:119007400-119021400	Weak transcription	Dnd41	blood
17	chr6:119008000-119014000	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr6:119008200-119010000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr6:119008200-119014600	Weak transcription	Primary T cells from cord blood	blood
20	chr6:119008400-119010200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr6:119008400-119011400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:119008400-119018600	Weak transcription	K562	blood
23	chr6:119008400-119022000	Weak transcription	GM12878-XiMat	blood
24	chr6:119008600-119009800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr6:119009000-119010200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:119009400-119009800	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr6:119009400-119009800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr6:119009800-119010000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr6:119009800-119010000	Enhancers	Psoas Muscle	Psoas
30	chr6:119009800-119010200	Genic enhancers	Primary T cells fromperipheralblood	blood
31	chr6:119009800-119010400	Strong transcription	Fetal Thymus	thymus
32	chr6:119009800-119012200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
33	chr6:119010000-119010800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr6:119010000-119011600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr6:119010000-119014000	Weak transcription	Psoas Muscle	Psoas
36	chr6:119010200-119011400	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr6:119010200-119019600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr6:119010400-119016600	Weak transcription	Fetal Thymus	thymus
39	chr6:119010800-119011600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr6:119011400-119011800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr6:119011400-119012200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr6:119011600-119012000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:119011600-119012000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr6:119011600-119012200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr6:119011800-119013200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr6:119012000-119014600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr6:119012200-119013000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr6:119012200-119013000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr6:119012200-119013200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr6:119013000-119013200	Enhancers	Primary T helper naive cells from peripheral blood	blood

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