Variant report

Variant	nsv433377
Chromosome Location	chr6:15686225-15713759
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:69)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:69 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:15682633..15685781-chr6:15685826..15688802,3	K562	blood:
2	chr6:15690304..15694051-chr6:16129108..16131986,7	K562	blood:
3	chr6:15689083..15690999-chr6:16131882..16134165,2	K562	blood:
4	chr6:15712668..15715344-chr6:15716824..15719119,3	K562	blood:
5	chr6:15706446..15709163-chr6:16128101..16131786,4	K562	blood:
6	chr6:15661124..15663645-chr6:15690658..15693451,3	K562	blood:
7	chr6:15711716..15714538-chr6:15724011..15725713,2	K562	blood:
8	chr6:15697857..15699700-chr6:16052665..16055384,2	K562	blood:
9	chr6:15691190..15692210-chr6:16168870..16169806,7	K562	blood:
10	chr6:15696361..15699402-chr6:16127550..16130271,4	K562	blood:
11	chr6:15684844..15687441-chr6:15880155..15881679,2	K562	blood:
12	chr6:15682033..15684824-chr6:15685357..15687470,3	MCF-7	breast:
13	chr6:15692594..15695303-chr6:15695960..15699366,3	K562	blood:
14	chr6:15690995..15692665-chr6:16183171..16185232,18	MCF-7	breast:
15	chr6:15707898..15710276-chr6:15713020..15715412,2	K562	blood:
16	chr6:15707898..15710276-chr6:15713020..15715412,2	K562	blood:
17	chr6:15686242..15688880-chr6:15691006..15692946,2	K562	blood:
18	chr6:15688875..15695962-chr6:16127988..16134034,16	MCF-7	breast:
19	chr6:15691141..15692187-chr6:16128576..16130145,22	MCF-7	breast:
20	chr6:15709788..15714363-chr6:16138909..16141924,4	K562	blood:
21	chr6:15690946..15692172-chr6:16206408..16207438,18	K562	blood:
22	chr6:15691192..15692197-chr6:16277250..16278145,4	K562	blood:
23	chr6:15691584..15692147-chr6:16171307..16172061,2	MCF-7	breast:
24	chr6:15691679..15692211-chr6:15736266..15736989,2	K562	blood:
25	chr6:15691207..15692253-chr6:16128861..16130251,7	MCF-7	breast:
26	chr6:15690395..15693320-chr6:16127608..16130843,10	MCF-7	breast:
27	chr6:15698629..15701193-chr6:15707870..15711464,3	K562	blood:
28	chr6:15704434..15705965-chr6:16129192..16132083,2	K562	blood:
29	chr6:15686242..15688880-chr6:15691006..15692946,2	K562	blood:
30	chr6:15699736..15701337-chr6:16129542..16132196,2	K562	blood:
31	chr6:15686282..15689020-chr6:16128019..16129871,2	K562	blood:
32	chr6:15708630..15712705-chr6:16139075..16141924,3	K562	blood:
33	chr6:15687375..15689354-chr6:15694199..15696327,2	MCF-7	breast:
34	chr6:15696979..15700313-chr6:15702500..15706211,4	K562	blood:
35	chr6:15689750..15690620-chr6:16183530..16184123,2	MCF-7	breast:
36	chr6:15695993..15699402-chr6:16128189..16132296,4	K562	blood:
37	chr6:15691223..15691812-chr6:15803377..15804019,2	K562	blood:
38	chr6:15678420..15680634-chr6:15684808..15686738,2	K562	blood:
39	chr6:15692594..15695303-chr6:15695960..15699366,3	K562	blood:
40	chr6:15691668..15694295-chr6:16137478..16139705,2	K562	blood:
41	chr6:15244123..15245961-chr6:15691500..15694136,2	K562	blood:
42	chr6:15687375..15689354-chr6:15694199..15696327,2	MCF-7	breast:
43	chr6:15689774..15693088-chr6:16205829..16209132,3	K562	blood:
44	chr6:15696534..15698771-chr6:15883531..15885390,2	K562	blood:
45	chr6:15701703..15703207-chr6:16129315..16131066,2	K562	blood:
46	chr6:15710538..15713074-chr6:16127901..16130794,2	MCF-7	breast:
47	chr6:15690838..15692168-chr6:16205606..16207465,12	MCF-7	breast:
48	chr6:15686130..15687986-chr6:16130553..16132331,2	MCF-7	breast:
49	chr6:15691034..15692122-chr6:16128597..16129547,5	K562	blood:
50	chr6:15690698..15692334-chr6:16182695..16185259,24	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTNBP1-7	chr6:15708809-15709169	NONHSAT107877
2	lnc-DTNBP1-7	chr6:15708733-15708781	NONHSAT107877
3	lnc-DTNBP1-2	chr6:15695349-15695670	XLOC_005621

No data

Variant related genes	Relation type
ENSG00000271888	chromatin interactions
ENSG00000047579	chromatin interactions
ENSG00000263712	chromatin interactions
ENSG00000007944	chromatin interactions
ENSG00000216364	chromatin interactions

Extended variants
information (count: 1043 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:1043 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11963843	chr6:15686225-15686226	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188397240	chr6:15686234-15686235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150406368	chr6:15686246-15686247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533359865	chr6:15686254-15686255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145397474	chr6:15686260-15686261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566216601	chr6:15686305-15686306	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553726216	chr6:15686310-15686311	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs114470225	chr6:15686320-15686321	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs60833321	chr6:15686377-15686378	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs71554533	chr6:15686408-15686409	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs58495197	chr6:15686420-15686421	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs201113096	chr6:15686430-15686431	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs200549259	chr6:15686435-15686436	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs548544401	chr6:15686455-15686456	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs373578721	chr6:15686464-15686465	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs568825034	chr6:15686473-15686474	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs55913076	chr6:15686499-15686500	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs557669882	chr6:15686575-15686576	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs149225248	chr6:15686588-15686589	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs533737061	chr6:15686658-15686659	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs34303993	chr6:15686689-15686690	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs9296989	chr6:15686699-15686700	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs143339694	chr6:15686718-15686719	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs57292248	chr6:15686764-15686765	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs576012073	chr6:15686797-15686798	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs544936708	chr6:15686821-15686822	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs564617131	chr6:15686827-15686828	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs61568456	chr6:15686874-15686875	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs546859439	chr6:15686917-15686918	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559839540	chr6:15686975-15686976	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs55799119	chr6:15687065-15687066	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs541603099	chr6:15687078-15687079	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs370039953	chr6:15687084-15687085	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs552135531	chr6:15687088-15687089	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs113149576	chr6:15687095-15687096	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs548575784	chr6:15687105-15687106	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs546672030	chr6:15687108-15687109	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs180808395	chr6:15687110-15687111	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs62395011	chr6:15687120-15687121	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs571436122	chr6:15687122-15687123	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs111377739	chr6:15687149-15687150	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs367571303	chr6:15687161-15687162	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs566978725	chr6:15687162-15687163	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs145299205	chr6:15687174-15687175	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs555893777	chr6:15687180-15687181	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs575634187	chr6:15687186-15687187	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs559997596	chr6:15687194-15687195	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs111324945	chr6:15687195-15687196	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs558449595	chr6:15687208-15687209	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs578165059	chr6:15687214-15687215	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
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
Myelodysplastic syndrome	21251322	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
Invasive pancreatic ductal carcinoma	16982739	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
small cell lung cancer	20016488	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
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17142309	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian cancer	20844748	CNVD
Developmental delay	19490664	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:204 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15682800-15686800	Enhancers	Fetal Intestine Small	intestine
2	chr6:15683200-15687400	Enhancers	Fetal Intestine Large	intestine
3	chr6:15683800-15690400	Weak transcription	K562	blood
4	chr6:15684600-15689000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr6:15685200-15690600	Weak transcription	Stomach Mucosa	stomach
6	chr6:15685400-15688200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:15685400-15690400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:15686000-15686800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr6:15686200-15686600	Weak transcription	Fetal Thymus	thymus
10	chr6:15686400-15686600	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr6:15686400-15686800	Enhancers	Thymus	Thymus
12	chr6:15686600-15686800	Enhancers	Fetal Thymus	thymus
13	chr6:15686800-15689600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr6:15686800-15690000	Weak transcription	Fetal Intestine Small	intestine
15	chr6:15686800-15690400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:15686800-15690800	Weak transcription	Fetal Thymus	thymus
17	chr6:15688200-15688400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:15688400-15688800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:15688800-15689000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:15689000-15690600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:15689000-15692200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr6:15689600-15691000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr6:15689600-15691200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:15689800-15690000	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr6:15690000-15690600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr6:15690000-15691600	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr6:15690000-15691600	Enhancers	Fetal Intestine Large	intestine
28	chr6:15690000-15692000	Enhancers	Fetal Intestine Small	intestine
29	chr6:15690400-15690600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr6:15690400-15690800	Enhancers	Small Intestine	intestine
31	chr6:15690400-15691000	Enhancers	Adipose Nuclei	Adipose
32	chr6:15690400-15691200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:15690400-15691200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr6:15690400-15691200	Enhancers	Duodenum Mucosa	Duodenum
35	chr6:15690400-15691200	Enhancers	Left Ventricle	heart
36	chr6:15690400-15691200	Enhancers	Psoas Muscle	Psoas
37	chr6:15690400-15691200	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr6:15690400-15691200	Enhancers	NHDF-Ad	bronchial
39	chr6:15690400-15691400	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr6:15690400-15691400	Enhancers	K562	blood
41	chr6:15690400-15691600	Enhancers	Liver	Liver
42	chr6:15690400-15691800	Enhancers	Fetal Muscle Leg	muscle
43	chr6:15690400-15692000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr6:15690600-15690800	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr6:15690600-15690800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr6:15690600-15691200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:15690600-15691600	Enhancers	Colonic Mucosa	Colon
48	chr6:15690600-15692000	Enhancers	Fetal Heart	heart
49	chr6:15690600-15692000	Enhancers	Stomach Mucosa	stomach
50	chr6:15690600-15692000	Enhancers	Monocytes-CD14+_RO01746	blood

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