Variant report

Variant	nsv441981
Chromosome Location	chr6:4170526-4174296
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:3)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:4164447..4168248-chr6:4168446..4171415,3	K562	blood:
2	chr6:4170820..4172896-chr6:4177996..4180681,2	K562	blood:
3	chr6:4113549..4115331-chr6:4170875..4173732,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C6orf201-9	chr6:4171934-4172100	NONHSAT107339
2	lnc-C6orf201-9	chr6:4170809-4171118	NONHSAT107337
3	lnc-C6orf201-9	chr6:4171516-4172848	NONHSAT107337
4	lnc-C6orf201-9	chr6:4172436-4172504	NONHSAT107339
5	lnc-C6orf201-9	chr6:4174245-4174359	NONHSAT107338
6	lnc-C6orf201-9	chr6:4171393-4171534	NONHSAT107338

No data

Extended variants
information (count: 166 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6597033	chr6:4170528-4170529	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73717464	chr6:4170626-4170627	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs73717465	chr6:4170630-4170631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375508805	chr6:4170642-4170643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545130065	chr6:4170645-4170646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9503942	chr6:4170670-4170671	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs190810030	chr6:4170687-4170688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544002602	chr6:4170740-4170741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537792818	chr6:4170741-4170742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560707953	chr6:4170743-4170744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146030008	chr6:4170758-4170759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550442534	chr6:4170761-4170762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546575113	chr6:4170765-4170766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182664000	chr6:4170769-4170770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149159608	chr6:4170822-4170823	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
16	rs76503566	chr6:4170824-4170825	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
17	rs188055970	chr6:4170845-4170846	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
18	rs552168605	chr6:4170847-4170848	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
19	rs570314676	chr6:4170852-4170853	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
20	rs191525371	chr6:4170925-4170926	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
21	rs59870280	chr6:4170933-4170934	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs551207826	chr6:4170941-4170942	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
23	rs567751201	chr6:4170948-4170949	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
24	rs77852181	chr6:4170950-4170951	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
25	rs537002518	chr6:4170971-4170972	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
26	rs200931403	chr6:4170994-4170995	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
27	rs141155744	chr6:4171041-4171042	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs150709844	chr6:4171052-4171053	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs73717466	chr6:4171055-4171056	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs368726341	chr6:4171067-4171068	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs13197516	chr6:4171143-4171144	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs73717467	chr6:4171151-4171152	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs544289043	chr6:4171186-4171187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561182661	chr6:4171201-4171202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373690950	chr6:4171227-4171228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116794686	chr6:4171244-4171245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540555258	chr6:4171251-4171252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73717468	chr6:4171258-4171259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs557559562	chr6:4171370-4171371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182474118	chr6:4171390-4171391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13197025	chr6:4171418-4171419	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs187511751	chr6:4171457-4171458	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs35653296	chr6:4171567-4171568	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs74373045	chr6:4171585-4171586	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs61478325	chr6:4171586-4171587	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs139104529	chr6:4171631-4171632	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs567879460	chr6:4171632-4171633	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs192076928	chr6:4171661-4171662	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs547141716	chr6:4171691-4171692	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs567053119	chr6:4171714-4171715	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4164400-4182200	Weak transcription	Left Ventricle	heart
2	chr6:4168800-4171200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr6:4169400-4182400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:4169600-4172000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:4170000-4172000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:4170000-4172400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:4170000-4172400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr6:4170200-4170800	Weak transcription	K562	blood
9	chr6:4170800-4171000	ZNF genes & repeats	K562	blood
10	chr6:4171000-4172400	Weak transcription	K562	blood
11	chr6:4171200-4171600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:4171600-4172600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:4172000-4172800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:4172000-4172800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:4172000-4173600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:4172000-4173800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:4172000-4174200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:4172000-4174200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr6:4172200-4173200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr6:4172200-4173800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr6:4172400-4172600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr6:4172400-4172800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr6:4172400-4172800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr6:4172400-4173200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:4172400-4173800	Enhancers	K562	blood
26	chr6:4172600-4172800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr6:4172600-4172800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr6:4172600-4172800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr6:4172600-4172800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr6:4172600-4182200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr6:4172800-4173800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr6:4172800-4173800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:4173000-4173800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr6:4173200-4173800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr6:4173400-4175200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:4173600-4186200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr6:4173600-4189200	Weak transcription	Spleen	Spleen
38	chr6:4173800-4174000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr6:4173800-4174000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:4173800-4174000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr6:4173800-4174000	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr6:4173800-4175400	Weak transcription	K562	blood
43	chr6:4174000-4174200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr6:4174200-4175000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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