Variant report

Variant	nsv511342
Chromosome Location	chr6:167830685-167838940
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:167823826..167826272-chr6:167829672..167831832,2	K562	blood:
2	chr20:57615578..57617834-chr6:167831422..167833295,2	MCF-7	breast:
3	chr6:167818746..167821496-chr6:167831177..167833070,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TCP10-3	chr6:167838864-167838906	ucscGeneNc_uc003qvy_1
2	lnc-TTLL2-2	chr6:167837702-167837948	NONHSAT116104

Variant related genes	Relation type
ENSG00000101166	chromatin interactions

Extended variants
information (count: 337 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:337 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13198757	chr6:167830685-167830686	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555918957	chr6:167830758-167830759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs80207896	chr6:167830772-167830773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574362989	chr6:167830790-167830791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541505453	chr6:167830805-167830806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77453443	chr6:167830835-167830836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183183174	chr6:167830869-167830870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145946528	chr6:167830979-167830980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564644594	chr6:167831040-167831041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528726550	chr6:167831044-167831045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377740537	chr6:167831053-167831054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547101510	chr6:167831071-167831072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6934557	chr6:167831088-167831089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535839556	chr6:167831094-167831095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs66627478	chr6:167831103-167831104	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs569249316	chr6:167831106-167831107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536920302	chr6:167831107-167831108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs66531239	chr6:167831116-167831117	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs536665436	chr6:167831156-167831157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367878397	chr6:167831191-167831192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534545308	chr6:167831195-167831196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552644748	chr6:167831206-167831207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546470444	chr6:167831242-167831243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12200707	chr6:167831319-167831320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572301453	chr6:167831333-167831334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554627064	chr6:167831400-167831401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75913010	chr6:167831414-167831415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62428351	chr6:167831455-167831456	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs13215965	chr6:167831493-167831494	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs192744944	chr6:167831529-167831530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs138363745	chr6:167831545-167831546	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs149433628	chr6:167831563-167831564	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs184192346	chr6:167831575-167831576	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs528154614	chr6:167831578-167831579	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs190678743	chr6:167831584-167831585	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs192493729	chr6:167831600-167831601	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs144815166	chr6:167831601-167831602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs4129851	chr6:167831603-167831604	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs576024174	chr6:167831616-167831617	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs148572183	chr6:167831629-167831630	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs75671652	chr6:167831649-167831650	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs527504976	chr6:167831651-167831652	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs71004145	chr6:167831652-167831653	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs141940797	chr6:167831656-167831657	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs76571123	chr6:167831673-167831674	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs188988743	chr6:167831700-167831701	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs181391051	chr6:167831739-167831740	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs574593198	chr6:167831744-167831745	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs535175343	chr6:167831752-167831753	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557051154	chr6:167831788-167831789	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167829600-167833800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:167829600-167834800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:167829600-167841400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:167829800-167842200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:167830200-167830800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:167830400-167832400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:167830400-167840200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:167830600-167830800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:167830600-167832800	Weak transcription	HepG2	liver
10	chr6:167830600-167836600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr6:167831000-167833600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr6:167832400-167834200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:167832800-167833000	Enhancers	HepG2	liver
14	chr6:167833000-167833400	Weak transcription	HepG2	liver
15	chr6:167833200-167834200	Enhancers	Fetal Intestine Small	intestine
16	chr6:167833400-167834400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr6:167833400-167834400	Enhancers	HepG2	liver
18	chr6:167833600-167833800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:167833600-167834000	Enhancers	Gastric	stomach
20	chr6:167833600-167834200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr6:167833600-167834200	Enhancers	Fetal Intestine Large	intestine
22	chr6:167833600-167834200	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr6:167833800-167834000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr6:167833800-167834000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:167833800-167834200	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr6:167833800-167834800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr6:167833800-167835000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr6:167833800-167835200	Enhancers	Stomach Mucosa	stomach
29	chr6:167833800-167835400	Active TSS	Duodenum Mucosa	Duodenum
30	chr6:167834000-167839400	Weak transcription	Gastric	stomach
31	chr6:167834000-167846400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr6:167834200-167834400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr6:167834200-167834600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr6:167834200-167834600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:167834200-167834600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr6:167834200-167834800	Flanking Active TSS	Fetal Intestine Large	intestine
37	chr6:167834200-167835000	Flanking Active TSS	Fetal Intestine Small	intestine
38	chr6:167834400-167834600	Enhancers	Colonic Mucosa	Colon
39	chr6:167834400-167834600	Genic enhancers	HepG2	liver
40	chr6:167834400-167834800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr6:167834400-167835200	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr6:167834600-167834800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr6:167834600-167834800	Flanking Active TSS	Colonic Mucosa	Colon
44	chr6:167834600-167834800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr6:167834600-167835000	Transcr. at gene 5' and 3'	HepG2	liver
46	chr6:167834600-167835200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr6:167834600-167835200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:167834600-167835200	Bivalent Enhancer	Placenta	Placenta
49	chr6:167834800-167835000	Enhancers	Lung	lung
50	chr6:167834800-167835200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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