Variant report

Variant	esv3409018
Chromosome Location	chr6:33890574-33894172
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33888441..33890846-chr6:33895660..33897379,2	K562	blood:
2	chr6:33881960..33884632-chr6:33890254..33892138,2	MCF-7	breast:
3	chr6:33893792..33896419-chr6:33908700..33911683,2	K562	blood:
4	chr6:33893477..33895597-chr6:33913163..33915930,2	K562	blood:
5	chr6:33890903..33893411-chr6:33904076..33906137,2	MCF-7	breast:
6	chr6:33889301..33891295-chr6:33893336..33896618,3	MCF-7	breast:
7	chr6:33885575..33887845-chr6:33891756..33894139,2	MCF-7	breast:
8	chr6:33881007..33883115-chr6:33890110..33892674,2	MCF-7	breast:
9	chr6:33889301..33891295-chr6:33893336..33896618,3	MCF-7	breast:
10	chr6:33887758..33891673-chr6:33891780..33895604,5	K562	blood:
11	chr6:33887758..33891673-chr6:33891780..33895604,5	K562	blood:
12	chr6:33892310..33894351-chr6:33897735..33900618,2	K562	blood:
13	chr6:33892310..33894285-chr6:33898684..33900893,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITPR3-1	chr6:33892111-33895408	ENSG00000233183
2	lnc-ITPR3-1	chr6:33892111-33892460	XLOC_005263

No data

Extended variants
information (count: 156 )
Associated
traits (count: 104 )

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	rs11752328	chr6:33890574-33890575	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369163051	chr6:33890610-33890611	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs115720971	chr6:33890667-33890668	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs571336612	chr6:33890713-33890714	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs538809336	chr6:33890738-33890739	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs370275516	chr6:33890746-33890747	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs547175457	chr6:33890761-33890762	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs565941404	chr6:33890783-33890784	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs66891384	chr6:33890793-33890794	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs115202448	chr6:33890804-33890805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573984583	chr6:33890838-33890839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs60815596	chr6:33890849-33890850	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs556352301	chr6:33890893-33890894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2181915	chr6:33890898-33890899	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs371253173	chr6:33890916-33890917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74459469	chr6:33890946-33890947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183666686	chr6:33890993-33890994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs80199591	chr6:33891027-33891028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368611336	chr6:33891064-33891065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189058117	chr6:33891072-33891073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560924883	chr6:33891143-33891144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190659919	chr6:33891162-33891163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113334749	chr6:33891169-33891170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549770901	chr6:33891173-33891174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376385331	chr6:33891180-33891181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182926334	chr6:33891195-33891196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547609201	chr6:33891261-33891262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs58451585	chr6:33891326-33891327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554098400	chr6:33891357-33891358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13219222	chr6:33891382-33891383	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs13203304	chr6:33891407-33891408	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs114915881	chr6:33891439-33891440	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs139404109	chr6:33891440-33891441	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs538117677	chr6:33891445-33891446	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs373698997	chr6:33891478-33891479	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs569953049	chr6:33891485-33891486	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs537801805	chr6:33891513-33891514	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs556529362	chr6:33891579-33891580	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs571396035	chr6:33891602-33891603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145616976	chr6:33891621-33891622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114234984	chr6:33891668-33891669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs386700004	chr6:33891687-33891688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs67651082	chr6:33891688-33891689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76476394	chr6:33891732-33891733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576676966	chr6:33891737-33891738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368174715	chr6:33891741-33891742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4711368	chr6:33891743-33891744	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs377156896	chr6:33891762-33891763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368511239	chr6:33891765-33891766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541159873	chr6:33891788-33891789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33883800-33891400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr6:33884000-33890600	Weak transcription	Fetal Thymus	thymus
3	chr6:33885200-33891600	Weak transcription	Pancreas	Pancrea
4	chr6:33886600-33894600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:33887400-33890600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:33889600-33890600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr6:33889600-33891400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:33889600-33892400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:33889800-33891600	Weak transcription	Spleen	Spleen
10	chr6:33889800-33892400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr6:33889800-33893200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:33890600-33890800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
13	chr6:33890600-33890800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr6:33890600-33891000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:33890600-33892200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:33890600-33892600	Enhancers	Primary hematopoietic stem cells	blood
17	chr6:33890600-33893400	Enhancers	Fetal Thymus	thymus
18	chr6:33890800-33891600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr6:33890800-33892000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr6:33891400-33891600	Bivalent Enhancer	Fetal Stomach	stomach
21	chr6:33891400-33891800	Enhancers	Fetal Lung	lung
22	chr6:33891400-33892000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr6:33891400-33892200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr6:33891400-33892200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr6:33891400-33892200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr6:33891400-33892200	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr6:33891400-33892200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:33891400-33892400	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr6:33891600-33892000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr6:33891600-33892200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr6:33891600-33892200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:33891600-33892200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr6:33891600-33892200	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr6:33891600-33893400	Enhancers	Pancreas	Pancrea
35	chr6:33891600-33893800	Enhancers	Spleen	Spleen
36	chr6:33891800-33892000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:33891800-33893000	Weak transcription	Fetal Lung	lung
38	chr6:33891800-33894000	Enhancers	Ovary	ovary
39	chr6:33892000-33892200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:33892000-33892800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
41	chr6:33892200-33892600	Enhancers	Fetal Brain Female	brain
42	chr6:33892200-33895600	Enhancers	Brain Germinal Matrix	brain
43	chr6:33892400-33893000	Bivalent Enhancer	Fetal Stomach	stomach
44	chr6:33892400-33894200	Enhancers	Fetal Brain Male	brain
45	chr6:33892600-33893000	Enhancers	Colon Smooth Muscle	Colon
46	chr6:33892600-33893000	Weak transcription	Fetal Brain Female	brain
47	chr6:33892800-33893200	Enhancers	Rectal Smooth Muscle	rectum
48	chr6:33893000-33893200	Enhancers	Fetal Lung	lung
49	chr6:33893000-33894000	Enhancers	Lung	lung
50	chr6:33893000-33894400	Enhancers	Fetal Brain Female	brain

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