Variant report

Variant	nsv883416
Chromosome Location	chr6:4666878-4690760
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:23)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:4632734..4636747-chr6:4678109..4681305,3	K562	blood:
2	chr6:4687463..4689972-chr6:4776640..4778169,2	MCF-7	breast:
3	chr6:4671964..4676370-chr6:4676405..4678296,5	K562	blood:
4	chr6:4680994..4683726-chr6:4685254..4687018,2	K562	blood:
5	chr6:4680994..4683726-chr6:4685254..4687018,2	K562	blood:
6	chr6:4669614..4671479-chr6:4675062..4677327,2	MCF-7	breast:
7	chr6:4671964..4676370-chr6:4676405..4678296,5	K562	blood:
8	chr6:4675333..4676875-chr6:4782888..4785440,2	MCF-7	breast:
9	chr6:4687535..4690499-chr6:4691352..4693513,3	K562	blood:
10	chr6:4669229..4672483-chr6:4677301..4680282,4	K562	blood:
11	chr6:4646609..4648240-chr6:4675199..4677622,2	MCF-7	breast:
12	chr6:4668064..4670933-chr6:4672620..4676191,4	K562	blood:
13	chr6:4669229..4672483-chr6:4677301..4680282,4	K562	blood:
14	chr6:4686580..4688742-chr6:4786418..4788333,2	K562	blood:
15	chr6:4669614..4671479-chr6:4675062..4677327,2	MCF-7	breast:
16	chr6:4685147..4686807-chr6:4775069..4777618,2	K562	blood:
17	chr6:4687974..4688722-chr6:4699245..4700235,2	MCF-7	breast:
18	chr6:4668064..4670933-chr6:4672620..4676191,4	K562	blood:
19	chr6:4686682..4689633-chr6:4775001..4777998,2	MCF-7	breast:
20	chr6:4690130..4692411-chr6:4780659..4782960,2	K562	blood:
21	chr6:4682974..4686881-chr6:4686986..4689567,5	K562	blood:
22	chr6:4682974..4686881-chr6:4686986..4689567,5	K562	blood:
23	chr6:4687332..4689780-chr6:4704649..4707466,2	MCF-7	breast:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDYL-6	chr6:4684216-4684313	NONHSAT107475
2	lnc-RPP40-9	chr6:4676599-4676717	NONHSAT107473
3	lnc-CDYL-6	chr6:4683664-4683709	NONHSAT107475
4	lnc-RPP40-9	chr6:4676941-4677055	NONHSAT107473
5	lnc-CDYL-7	chr6:4675697-4675792	NONHSAT107472
6	lnc-CDYL-7	chr6:4676594-4676787	NONHSAT107472
7	lnc-CDYL-6	chr6:4687385-4687470	NONHSAT107475
8	lnc-CDYL-7	chr6:4679779-4679971	NONHSAT107472
9	lnc-CDYL-7	chr6:4674871-4674970	NONHSAT107472
10	lnc-CDYL-6	chr6:4687553-4687606	NONHSAT107475
11	lnc-RPP40-9	chr6:4675353-4676068	NONHSAT107473
12	lnc-CDYL-7	chr6:4674617-4674736	NONHSAT107472

No data

Variant related genes	Relation type
ENSG00000236336	chromatin interactions
ENSG00000153046	chromatin interactions

Extended variants
information (count: 1074 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1074 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs437875	chr6:4666878-4666879	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528389452	chr6:4666885-4666886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144138966	chr6:4666915-4666916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564835452	chr6:4666930-4666931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538851887	chr6:4666996-4666997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530658790	chr6:4667006-4667007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550345903	chr6:4667044-4667045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183379605	chr6:4667082-4667083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186300162	chr6:4667085-4667086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145106230	chr6:4667109-4667110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149074474	chr6:4667144-4667145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535009074	chr6:4667225-4667226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113541547	chr6:4667239-4667240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552096604	chr6:4667240-4667241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532847617	chr6:4667282-4667283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190004819	chr6:4667469-4667470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537673967	chr6:4667483-4667484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs148258240	chr6:4667547-4667548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574203507	chr6:4667685-4667686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536715954	chr6:4667747-4667748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552796354	chr6:4667748-4667749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553101074	chr6:4667753-4667754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573236385	chr6:4667764-4667765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182193505	chr6:4667805-4667806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs742570	chr6:4667812-4667813	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs575176166	chr6:4667822-4667823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs742571	chr6:4667847-4667848	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs531307168	chr6:4667918-4667919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs436135	chr6:4667981-4667982	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs529762921	chr6:4668024-4668025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs427886	chr6:4668025-4668026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374739008	chr6:4668039-4668040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559636396	chr6:4668158-4668159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78651089	chr6:4668203-4668204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11970573	chr6:4668244-4668245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188406704	chr6:4668248-4668249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372630176	chr6:4668266-4668267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192736269	chr6:4668269-4668270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537711459	chr6:4668280-4668281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35970355	chr6:4668306-4668307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551210263	chr6:4668358-4668359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528624256	chr6:4668362-4668363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183160141	chr6:4668371-4668372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567818822	chr6:4668379-4668380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568129351	chr6:4668409-4668410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374905822	chr6:4668420-4668421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536444835	chr6:4668433-4668434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533666852	chr6:4668501-4668502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111239879	chr6:4668510-4668511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17138658	chr6:4668534-4668535	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	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
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4662000-4667200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:4662000-4667800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr6:4664000-4667000	Enhancers	Osteobl	bone
4	chr6:4664000-4669600	Enhancers	K562	blood
5	chr6:4664800-4667800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:4664800-4668600	Weak transcription	HSMM	muscle
7	chr6:4665000-4668600	Weak transcription	NHDF-Ad	bronchial
8	chr6:4665000-4670400	Weak transcription	Fetal Muscle Leg	muscle
9	chr6:4665000-4680400	Weak transcription	Right Atrium	heart
10	chr6:4665200-4668600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:4665200-4670400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr6:4666000-4670400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:4666600-4667800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:4666600-4668000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:4666600-4668000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:4666600-4672400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:4666800-4668600	Weak transcription	HSMMtube	muscle
18	chr6:4666800-4668600	Weak transcription	NH-A	brain
19	chr6:4667000-4668400	Weak transcription	Osteobl	bone
20	chr6:4667200-4668200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:4667800-4668800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr6:4667800-4669200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr6:4667800-4669400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:4668000-4668800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:4668000-4668800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:4668000-4669000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:4668000-4669200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr6:4668000-4669400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr6:4668000-4669400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:4668000-4669600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:4668200-4669000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr6:4668200-4669000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr6:4668200-4675000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:4668400-4669400	Enhancers	Osteobl	bone
35	chr6:4668400-4669600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr6:4668600-4669000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr6:4668600-4669000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:4668600-4669200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr6:4668600-4669400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:4668600-4669400	Enhancers	HSMM	muscle
41	chr6:4668600-4669400	Enhancers	NH-A	brain
42	chr6:4668600-4669600	Enhancers	HSMMtube	muscle
43	chr6:4668600-4669600	Enhancers	NHDF-Ad	bronchial
44	chr6:4669000-4670600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr6:4669000-4672400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:4669000-4695600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:4669200-4672600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr6:4669400-4671200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:4669400-4672200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:4669400-4672400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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