Variant report

Variant	esv1842212
Chromosome Location	chr6:46111940-46127836
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:46110640..46112825-chr6:46112958..46115144,2	K562	blood:
2	chr6:46123024..46125311-chr6:46125396..46128164,2	K562	blood:
3	chr6:46096789..46099269-chr6:46120563..46123383,3	MCF-7	breast:
4	chr6:46107057..46110054-chr6:46111949..46114711,2	K562	blood:
5	chr6:46123024..46125311-chr6:46125396..46128164,2	K562	blood:
6	chr6:46110640..46112825-chr6:46112958..46115144,2	K562	blood:
7	chr6:46112224..46114185-chr6:46116270..46118117,2	K562	blood:
8	chr6:46106023..46108072-chr6:46120783..46123181,2	MCF-7	breast:
9	chr6:46112224..46114185-chr6:46116270..46118117,2	K562	blood:

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	ENPP4	hsa-miR-16-5p	chr6:46113745-46113767
2	ENPP4	hsa-miR-16-5p	chr6:46113911-46113930
3	ENPP4	hsa-miR-103a-3p	chr6:46113744-46113766

Variant related genes	Relation type
ENSG00000231769	chromatin interactions
ENSG00000001561	chromatin interactions

Extended variants
information (count: 522 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:522 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3777630	chr6:46111940-46111941	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147754498	chr6:46111976-46111977	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186418464	chr6:46111980-46111981	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539091534	chr6:46111993-46111994	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529466294	chr6:46112045-46112046	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542782593	chr6:46112055-46112056	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377496458	chr6:46112074-46112075	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369238030	chr6:46112079-46112080	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112530017	chr6:46112102-46112103	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189873003	chr6:46112125-46112126	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531673059	chr6:46112219-46112220	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542651595	chr6:46112224-46112225	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555224994	chr6:46112254-46112255	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573625832	chr6:46112255-46112256	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540988885	chr6:46112264-46112265	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559465050	chr6:46112282-46112283	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182343011	chr6:46112321-46112322	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545042159	chr6:46112342-46112343	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188341083	chr6:46112349-46112350	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114015199	chr6:46112354-46112355	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1048076	chr6:46112372-46112373	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs1048077	chr6:46112389-46112390	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs1048079	chr6:46112424-46112425	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs192575031	chr6:46112452-46112453	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183203538	chr6:46112509-46112510	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187472105	chr6:46112576-46112577	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370684103	chr6:46112646-46112647	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569041471	chr6:46112700-46112701	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114300306	chr6:46112719-46112720	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192082472	chr6:46112767-46112768	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572916314	chr6:46112771-46112772	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566731876	chr6:46112884-46112885	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3777632	chr6:46112887-46112888	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs377707148	chr6:46112927-46112928	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555583885	chr6:46112967-46112968	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184844576	chr6:46112979-46112980	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548148268	chr6:46112992-46112993	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376992511	chr6:46113001-46113002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150341420	chr6:46113029-46113030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200153618	chr6:46113033-46113034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189147792	chr6:46113144-46113145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192760038	chr6:46113148-46113149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370945531	chr6:46113171-46113172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184172663	chr6:46113219-46113220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1048082	chr6:46113221-46113222	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs528087191	chr6:46113241-46113242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547229148	chr6:46113252-46113253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199577169	chr6:46113294-46113295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs3822891	chr6:46113340-46113341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537937170	chr6:46113368-46113369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
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
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
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	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
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:46098800-46112400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr6:46098800-46112800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:46098800-46112800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:46098800-46112800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:46098800-46113000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr6:46098800-46117800	Weak transcription	Gastric	stomach
7	chr6:46098800-46129000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:46101600-46112000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:46101800-46112000	Weak transcription	Colon Smooth Muscle	Colon
10	chr6:46101800-46113000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:46102200-46113000	Weak transcription	Fetal Intestine Large	intestine
12	chr6:46105000-46114600	Weak transcription	Fetal Muscle Leg	muscle
13	chr6:46105400-46115000	Weak transcription	Aorta	Aorta
14	chr6:46105400-46133800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr6:46105600-46113200	Weak transcription	Spleen	Spleen
16	chr6:46105600-46128600	Weak transcription	Brain Angular Gyrus	brain
17	chr6:46105600-46137400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr6:46105800-46112800	Weak transcription	HSMMtube	muscle
19	chr6:46106400-46112600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr6:46106400-46112800	Weak transcription	Brain Hippocampus Middle	brain
21	chr6:46106400-46125400	Weak transcription	Psoas Muscle	Psoas
22	chr6:46106400-46138000	Weak transcription	Lung	lung
23	chr6:46106600-46112800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr6:46106600-46112800	Weak transcription	Liver	Liver
25	chr6:46107800-46114000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:46108000-46130000	Weak transcription	Brain Substantia Nigra	brain
27	chr6:46108800-46112600	Weak transcription	Ovary	ovary
28	chr6:46109600-46112400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:46109800-46112000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr6:46109800-46112400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:46110200-46112400	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr6:46110400-46112000	Weak transcription	Fetal Lung	lung
33	chr6:46110400-46112800	Enhancers	Fetal Heart	heart
34	chr6:46110600-46112800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr6:46110600-46112800	Strong transcription	Dnd41	blood
36	chr6:46110800-46112400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr6:46111200-46114600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr6:46111400-46112000	Weak transcription	Adipose Nuclei	Adipose
39	chr6:46111400-46112400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr6:46111400-46113000	Weak transcription	Left Ventricle	heart
41	chr6:46111400-46113000	Weak transcription	Thymus	Thymus
42	chr6:46111400-46113200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr6:46111400-46113800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr6:46111400-46114200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr6:46111400-46114200	Weak transcription	GM12878-XiMat	blood
46	chr6:46111400-46114800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr6:46111400-46115200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr6:46111400-46116200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr6:46111400-46117200	Weak transcription	Brain Anterior Caudate	brain
50	chr6:46111400-46125200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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