Variant report

Variant	esv1842105
Chromosome Location	chr6:44783457-44798701
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44775398..44777439-chr6:44790507..44792288,2	K562	blood:
2	chr6:44779931..44781462-chr6:44787160..44789161,2	K562	blood:
3	chr6:44791441..44794035-chr6:44828458..44830596,2	K562	blood:
4	chr6:44797166..44798677-chr6:44803653..44805802,3	K562	blood:
5	chr6:44788604..44791132-chr6:44792129..44794044,2	K562	blood:
6	chr6:44794819..44797598-chr6:44800696..44803028,2	K562	blood:
7	chr6:44788604..44791132-chr6:44792129..44794044,2	K562	blood:
8	chr6:44627162..44628887-chr6:44792962..44795386,2	MCF-7	breast:
9	chr6:44783514..44785613-chr6:44788959..44791402,2	K562	blood:
10	chr6:44783514..44785613-chr6:44788959..44791402,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	SUPT3H	hsa-miR-26b-5p	chr6:44796516-44796536

Extended variants
information (count: 550 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:550 , 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	rs7769218	chr6:44783457-44783458	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs569696419	chr6:44783460-44783461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544188430	chr6:44783497-44783498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386700758	chr6:44783509-44783510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185653338	chr6:44783527-44783528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190230070	chr6:44783545-44783546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540966967	chr6:44783554-44783555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538864	chr6:44783582-44783583	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs577766663	chr6:44783592-44783593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539002	chr6:44783637-44783638	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs77275066	chr6:44783656-44783657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7349931	chr6:44783674-44783675	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs543124956	chr6:44783680-44783681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111911939	chr6:44783684-44783685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528487358	chr6:44783698-44783699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115334010	chr6:44783735-44783736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181884979	chr6:44783760-44783761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532609164	chr6:44783768-44783769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142587505	chr6:44783828-44783829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569330406	chr6:44783836-44783837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537197202	chr6:44783849-44783850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150951246	chr6:44783907-44783908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566931579	chr6:44783945-44783946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534274574	chr6:44783948-44783949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552872059	chr6:44783970-44783971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183523540	chr6:44784011-44784012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371713069	chr6:44784037-44784038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188213737	chr6:44784044-44784045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79202408	chr6:44784098-44784099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181129993	chr6:44784175-44784176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186471763	chr6:44784228-44784229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191817311	chr6:44784265-44784266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573293968	chr6:44784290-44784291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373220371	chr6:44784298-44784299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376902315	chr6:44784299-44784300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56377407	chr6:44784312-44784313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181875051	chr6:44784375-44784376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565116826	chr6:44784459-44784460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532865733	chr6:44784465-44784466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553944518	chr6:44784505-44784506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186986941	chr6:44784543-44784544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12215971	chr6:44784566-44784567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs536292087	chr6:44784572-44784573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555890214	chr6:44784588-44784589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576638869	chr6:44784595-44784596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145926810	chr6:44784641-44784642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143941690	chr6:44784642-44784643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558099036	chr6:44784643-44784644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199601954	chr6:44784644-44784645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566995750	chr6:44784645-44784646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
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
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	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
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Ovarian cancer	20844748	CNVD
lymphocytic leukemia	21291569	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44777400-44796600	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr6:44779600-44796200	Weak transcription	Primary T cells from cord blood	blood
3	chr6:44779600-44796600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr6:44779600-44796800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:44779600-44796800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:44780000-44798400	Weak transcription	Dnd41	blood
7	chr6:44783200-44784400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:44784400-44788000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:44785200-44795200	Weak transcription	Aorta	Aorta
10	chr6:44785200-44796800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr6:44785800-44796400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr6:44786200-44797200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:44787000-44789200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr6:44787400-44789200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr6:44787800-44788600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:44787800-44788600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr6:44788000-44788400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:44788000-44788800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:44789200-44794600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr6:44789200-44796800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr6:44790200-44790400	Enhancers	H9 Cell Line	embryonic stem cell
22	chr6:44790400-44792600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr6:44790400-44797200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:44790800-44791800	Weak transcription	Pancreas	Pancrea
25	chr6:44791000-44793600	Weak transcription	Fetal Stomach	stomach
26	chr6:44791000-44805600	Weak transcription	Ovary	ovary
27	chr6:44791200-44796400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr6:44791200-44799000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr6:44791600-44792200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:44791800-44792000	ZNF genes & repeats	Pancreas	Pancrea
31	chr6:44791800-44792200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr6:44791800-44792800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr6:44791800-44792800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr6:44791800-44794200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr6:44792000-44811600	Weak transcription	Pancreas	Pancrea
36	chr6:44792200-44792600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr6:44792200-44792800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr6:44792200-44796600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr6:44792400-44793800	Enhancers	Fetal Intestine Large	intestine
40	chr6:44792400-44796800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr6:44792600-44792800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr6:44792600-44793400	Enhancers	H9 Cell Line	embryonic stem cell
43	chr6:44792600-44796200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:44792800-44796600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr6:44792800-44796800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:44792800-44797000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr6:44792800-44797200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr6:44793000-44793400	Enhancers	HepG2	liver
49	chr6:44793400-44797200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr6:44793400-44798000	Weak transcription	HepG2	liver

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