Variant report

Variant	esv3692889
Chromosome Location	chr6:26064510-26066198
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26062306..26067668-chr6:27858950..27863363,5	K562	blood:
2	chr6:26065834..26066684-chr6:26097254..26098120,4	MCF-7	breast:
3	chr6:26065547..26067255-chr6:26183017..26185475,2	MCF-7	breast:
4	chr6:26064512..26067179-chr6:26122089..26125460,6	MCF-7	breast:
5	chr6:26065500..26066266-chr6:26096170..26096872,2	K562	blood:
6	chr6:26064740..26067843-chr6:26069105..26072811,5	MCF-7	breast:
7	chr6:26052762..26068184-chr6:26093226..26113078,68	MCF-7	breast:
8	chr20:9893278..9893949-chr6:26066133..26066755,2	MCF-7	breast:
9	chr6:26064094..26066062-chr6:26159864..26162128,3	MCF-7	breast:
10	chr6:26065328..26067963-chr6:26073996..26076276,2	MCF-7	breast:
11	chr6:26062694..26067901-chr6:26153847..26159350,8	MCF-7	breast:
12	chr6:26063980..26067080-chr6:26097095..26099465,41	K562	blood:
13	chr6:26064381..26065446-chr6:26096715..26098165,10	MCF-7	breast:
14	chr6:26062288..26065623-chr6:26197737..26201051,3	MCF-7	breast:
15	chr6:26064122..26065354-chr6:26097213..26098099,5	MCF-7	breast:
16	chr6:26062306..26067668-chr6:27858950..27863759,6	K562	blood:
17	chr6:26056669..26057216-chr6:26065836..26066480,2	K562	blood:
18	chr6:26064369..26067224-chr6:27113844..27115420,2	K562	blood:
19	chr6:26064765..26066287-chr6:27085154..27087707,2	K562	blood:
20	chr6:26063865..26065527-chr6:26230898..26232930,2	MCF-7	breast:
21	chr6:26064133..26067139-chr6:26087188..26090926,6	MCF-7	breast:
22	chr6:26065865..26066777-chr6:26097220..26098413,14	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000158373	chromatin interactions
ENSG00000180573	chromatin interactions
ENSG00000197697	chromatin interactions
ENSG00000265565	chromatin interactions
ENSG00000196331	chromatin interactions
ENSG00000180596	chromatin interactions
ENSG00000168298	chromatin interactions
ENSG00000197409	chromatin interactions
ENSG00000196866	chromatin interactions
ENSG00000197061	chromatin interactions
ENSG00000197903	chromatin interactions
ENSG00000187837	chromatin interactions
ENSG00000197846	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000187475	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000010704	chromatin interactions

Extended variants
information (count: 58 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs971665	chr6:26064510-26064511	Weak transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
2	rs539361832	chr6:26064530-26064531	Weak transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
3	rs188611840	chr6:26064600-26064601	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
4	rs971664	chr6:26064603-26064604	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
5	rs535461981	chr6:26064705-26064706	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
6	rs35334707	chr6:26064729-26064730	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
7	rs555029774	chr6:26064740-26064741	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
8	rs149335951	chr6:26064746-26064747	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
9	rs536078004	chr6:26064773-26064774	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
10	rs117105600	chr6:26064826-26064827	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
11	rs557882200	chr6:26064836-26064837	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
12	rs180703465	chr6:26064879-26064880	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
13	rs543723208	chr6:26064880-26064881	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
14	rs557656334	chr6:26064881-26064882	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
15	rs5875086	chr6:26064888-26064889	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
16	rs576063705	chr6:26064895-26064896	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
17	rs76482094	chr6:26064976-26064977	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
18	rs79281777	chr6:26064979-26064980	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
19	rs185092188	chr6:26064986-26064987	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
20	rs73387476	chr6:26065006-26065007	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs189908295	chr6:26065082-26065083	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
22	rs374229436	chr6:26065107-26065108	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
23	rs144587813	chr6:26065113-26065114	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
24	rs560811979	chr6:26065157-26065158	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
25	rs148463786	chr6:26065163-26065164	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
26	rs141716931	chr6:26065164-26065165	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
27	rs145975979	chr6:26065189-26065190	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
28	rs548616175	chr6:26065221-26065222	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
29	rs565341635	chr6:26065243-26065244	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
30	rs139839999	chr6:26065270-26065271	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
31	rs543096502	chr6:26065293-26065294	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
32	rs551076254	chr6:26065349-26065350	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
33	rs367827113	chr6:26065376-26065377	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
34	rs571720551	chr6:26065476-26065477	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
35	rs9348706	chr6:26065481-26065482	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs557352388	chr6:26065506-26065507	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
37	rs561650723	chr6:26065509-26065510	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
38	rs542063046	chr6:26065519-26065520	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
39	rs143174385	chr6:26065535-26065536	Weak transcription Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs373995981	chr6:26065569-26065570	Weak transcription Enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
41	rs62394554	chr6:26065577-26065578	Weak transcription Enhancers	Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs74790395	chr6:26065601-26065602	Weak transcription Enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
43	rs77355113	chr6:26065612-26065613	Weak transcription Enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
44	rs807212	chr6:26065621-26065622	Weak transcription Enhancers	Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs182370096	chr6:26065658-26065659	Weak transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
46	rs187360790	chr6:26065692-26065693	Weak transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
47	rs577746928	chr6:26065702-26065703	Weak transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs543642822	chr6:26065718-26065719	Weak transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
49	rs563433555	chr6:26065749-26065750	Weak transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
50	rs528511001	chr6:26065758-26065759	Weak transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26057600-26066400	Weak transcription	NH-A	brain
2	chr6:26058200-26066000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:26058400-26066000	Weak transcription	Hela-S3	cervix
4	chr6:26058800-26066400	Weak transcription	K562	blood
5	chr6:26060200-26066400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:26061000-26064600	Weak transcription	HepG2	liver
7	chr6:26061000-26066400	Weak transcription	Stomach Mucosa	stomach
8	chr6:26061200-26065600	Weak transcription	Dnd41	blood
9	chr6:26061600-26066000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr6:26063000-26067800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr6:26064600-26064800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr6:26064600-26065000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr6:26064600-26065200	Enhancers	HepG2	liver
14	chr6:26064800-26066000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr6:26064800-26066400	Weak transcription	Fetal Intestine Large	intestine
16	chr6:26065000-26065200	Enhancers	Primary T cells fromperipheralblood	blood
17	chr6:26065200-26066200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr6:26065200-26066400	Weak transcription	HepG2	liver
19	chr6:26065200-26066600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:26065200-26066600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr6:26065200-26066800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:26065400-26066600	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr6:26065600-26066800	Enhancers	Dnd41	blood
24	chr6:26065800-26066600	Enhancers	Primary B cells from cord blood	blood
25	chr6:26066000-26066400	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr6:26066000-26066600	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr6:26066000-26066600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr6:26066000-26066600	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr6:26066000-26066600	Enhancers	Fetal Lung	lung
30	chr6:26066000-26066800	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr6:26066000-26066800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr6:26066000-26066800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:26066000-26066800	Enhancers	Colon Smooth Muscle	Colon
34	chr6:26066000-26066800	Enhancers	Hela-S3	cervix
35	chr6:26066000-26067000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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