Variant report

Variant	nsv981366
Chromosome Location	chr6:101350432-101366644
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:101327681..101329866-chr6:101349579..101352191,2	K562	blood:
2	chr6:101340211..101341918-chr6:101348569..101350862,2	K562	blood:
3	chr6:101328627..101330920-chr6:101364581..101367417,2	K562	blood:

Variant related genes	Relation type
ENSG00000260000	chromatin interactions
ENSG00000112249	chromatin interactions

Extended variants
information (count: 373 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139877302	chr6:101350440-101350441	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs567806803	chr6:101350464-101350465	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs609522	chr6:101350518-101350519	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs76477496	chr6:101350581-101350582	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs189349472	chr6:101350601-101350602	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs73508814	chr6:101350622-101350623	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs556489292	chr6:101350651-101350652	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs145189646	chr6:101350681-101350682	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs542258731	chr6:101350694-101350695	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs181893473	chr6:101350715-101350716	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs571459606	chr6:101350731-101350732	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs531006411	chr6:101350739-101350740	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs528204299	chr6:101350755-101350756	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs540409402	chr6:101350812-101350813	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs564949755	chr6:101350840-101350841	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs532410125	chr6:101350847-101350848	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs73508818	chr6:101350889-101350890	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs376213065	chr6:101350903-101350904	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs149173379	chr6:101350917-101350918	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs530924002	chr6:101350969-101350970	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs186535191	chr6:101350987-101350988	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs567731736	chr6:101351064-101351065	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs550802412	chr6:101351069-101351070	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs2004276	chr6:101351095-101351096	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs369769206	chr6:101351110-101351111	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs571748837	chr6:101351132-101351133	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs552663944	chr6:101351143-101351144	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs191127731	chr6:101351200-101351201	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs117158360	chr6:101351246-101351247	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs558819847	chr6:101351258-101351259	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs563979625	chr6:101351292-101351293	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs617365	chr6:101351365-101351366	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs142318916	chr6:101351372-101351373	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs2398247	chr6:101351390-101351391	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs565044378	chr6:101351396-101351397	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs576975437	chr6:101351418-101351419	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs544464856	chr6:101351426-101351427	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs182918840	chr6:101351447-101351448	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs528912203	chr6:101351512-101351513	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs530049916	chr6:101351540-101351541	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs549362697	chr6:101351541-101351542	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs542343883	chr6:101351612-101351613	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs554839478	chr6:101351720-101351721	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs560872972	chr6:101351721-101351722	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs574160708	chr6:101351732-101351733	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs186802463	chr6:101351733-101351734	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs80204215	chr6:101351736-101351737	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs538846524	chr6:101351768-101351769	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs550793858	chr6:101351771-101351772	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs191248178	chr6:101351782-101351783	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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
Ependymoma	16718352	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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Autism	22543975	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101350000-101351800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:101350200-101352000	Weak transcription	Stomach Mucosa	stomach
3	chr6:101350800-101351000	Enhancers	Dnd41	blood
4	chr6:101351000-101352200	Weak transcription	Dnd41	blood
5	chr6:101351600-101352400	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr6:101351800-101352000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr6:101351800-101352400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:101351800-101352400	Enhancers	Small Intestine	intestine
9	chr6:101351800-101353000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:101352000-101352400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:101352000-101352400	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr6:101352000-101353200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:101352000-101353200	Enhancers	Placenta	Placenta
14	chr6:101352200-101352400	Enhancers	Stomach Mucosa	stomach
15	chr6:101352200-101353800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr6:101352200-101354600	Enhancers	Dnd41	blood
17	chr6:101352400-101353200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:101352800-101353400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr6:101352800-101354000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:101353000-101353400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:101353200-101353400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr6:101353200-101353400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr6:101353200-101354200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr6:101353400-101353600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:101354000-101354200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:101361200-101361400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:101361200-101361400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr6:101361200-101361400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr6:101361200-101361400	Enhancers	HepG2	liver
30	chr6:101361200-101361600	Enhancers	Fetal Intestine Small	intestine
31	chr6:101361400-101361600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr6:101361400-101361600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:101361400-101361600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr6:101361400-101361600	Flanking Active TSS	HepG2	liver
35	chr6:101361400-101362000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr6:101361400-101362000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr6:101361400-101362000	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr6:101361400-101362000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr6:101361400-101362000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:101361400-101362000	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr6:101361600-101361800	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr6:101361600-101361800	Active TSS	Placenta	Placenta
43	chr6:101361600-101362000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:101361600-101362000	Active TSS	H9 Cell Line	embryonic stem cell
45	chr6:101361600-101362000	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr6:101361600-101362000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:101361600-101362000	Active TSS	Fetal Intestine Small	intestine
48	chr6:101361600-101362000	Active TSS	Gastric	stomach
49	chr6:101361600-101362000	Active TSS	Stomach Mucosa	stomach
50	chr6:101361600-101362000	Active TSS	HepG2	liver

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