Variant report

Variant	esv3386121
Chromosome Location	chr6:167820662-167822560
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167818746..167821496-chr6:167831177..167833070,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TCP10-2	chr6:167822441-167822752	ucscGeneNc_uc003qvx_1
2	lnc-TCP10-2	chr6:167821589-167821728	ucscGeneNc_uc003qvx_1

Extended variants
information (count: 109 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563626020	chr6:167820695-167820696	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs530938017	chr6:167820696-167820697	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs543705789	chr6:167820719-167820720	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs34932512	chr6:167820732-167820733	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs187914333	chr6:167820808-167820809	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs565634546	chr6:167820845-167820846	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs532194454	chr6:167820849-167820850	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs547611375	chr6:167820873-167820874	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs565635639	chr6:167820916-167820917	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs193215638	chr6:167820920-167820921	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs547893655	chr6:167820922-167820923	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs569277128	chr6:167820926-167820927	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs139629404	chr6:167820956-167820957	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs552429234	chr6:167820977-167820978	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs571155025	chr6:167820980-167820981	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs534892965	chr6:167820983-167820984	Enhancers Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs371410256	chr6:167821009-167821010	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs112158211	chr6:167821056-167821057	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs4507559	chr6:167821064-167821065	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs538442149	chr6:167821068-167821069	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs79379457	chr6:167821103-167821104	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs554063941	chr6:167821119-167821120	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs367790908	chr6:167821141-167821142	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs6926519	chr6:167821164-167821165	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs565025510	chr6:167821172-167821173	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs577115064	chr6:167821201-167821202	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs540970805	chr6:167821204-167821205	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs13195399	chr6:167821212-167821213	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs529857105	chr6:167821232-167821233	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs6926565	chr6:167821243-167821244	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs185340545	chr6:167821300-167821301	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs13209649	chr6:167821355-167821356	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs530407732	chr6:167821362-167821363	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs13209862	chr6:167821382-167821383	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs552188778	chr6:167821417-167821418	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs28399033	chr6:167821420-167821421	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs13195626	chr6:167821428-167821429	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs571051459	chr6:167821465-167821466	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs535273106	chr6:167821468-167821469	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs546986273	chr6:167821471-167821472	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs568636015	chr6:167821472-167821473	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs536076376	chr6:167821478-167821479	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs188647570	chr6:167821479-167821480	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs117966497	chr6:167821486-167821487	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs13209888	chr6:167821487-167821488	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs3010542	chr6:167821540-167821541	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs539838964	chr6:167821561-167821562	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs150523855	chr6:167821567-167821568	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs139484202	chr6:167821677-167821678	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
50	rs149662250	chr6:167821683-167821684	Enhancers Weak transcription Bivalent Enhancer	lncRNA	n/a	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167815400-167820800	Bivalent Enhancer	HepG2	liver
2	chr6:167816000-167820800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:167817800-167821200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:167818600-167820800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:167820200-167821400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr6:167820200-167821600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:167820400-167821600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr6:167820400-167822200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr6:167820800-167821400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:167820800-167821400	Flanking Bivalent TSS/Enh	HepG2	liver
11	chr6:167820800-167822200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:167821000-167821400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:167821000-167821400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:167821000-167821400	Enhancers	Pancreas	Pancrea
15	chr6:167821000-167821600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr6:167821000-167821600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:167821000-167822200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
18	chr6:167821200-167821400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:167821200-167821400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:167821200-167822000	Enhancers	Fetal Brain Female	brain
21	chr6:167821200-167822200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:167821400-167823400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:167821400-167829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:167821600-167824200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:167821600-167829400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr6:167822200-167824000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr6:167822200-167829000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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