Variant report

Variant	nsv970689
Chromosome Location	chr6:76481616-76485006
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:76484978-76485281	K562	blood:	n/a	n/a
2	CCNT2	chr6:76484983-76485301	K562	blood:	n/a	n/a
3	CHD2	chr6:76484944-76485303	K562	blood:	n/a	n/a
4	CTCF	chr6:76483220-76483370	GM12869	blood:	n/a	n/a
5	EP300	chr6:76484933-76485280	SK-N-SH_RA	brain:	n/a	n/a
6	EP300	chr6:76484872-76485287	SK-N-SH_RA	brain:	n/a	n/a
7	EP300	chr6:76484967-76485409	K562	blood:	n/a	n/a
8	JUND	chr6:76484972-76485250	K562	blood:	n/a	n/a
9	KAP1	chr6:76484848-76485618	U2OS	brain:	n/a	n/a
10	KAP1	chr6:76484835-76485489	HEK293	kidney:	n/a	n/a
11	MAFK	chr6:76484844-76485161	HepG2	liver:	n/a	n/a
12	MAFK	chr6:76482331-76482392	HepG2	liver:	n/a	n/a
13	MAFK	chr6:76484865-76485170	HepG2	liver:	n/a	n/a
14	MYC	chr6:76484999-76485100	K562	blood:	n/a	n/a
15	MYC	chr6:76484927-76485246	K562	blood:	n/a	n/a
16	NFIC	chr6:76484871-76485407	SK-N-SH	brain:	n/a	chr6:76485150-76485167 chr6:76485150-76485166
17	NFIC	chr6:76484940-76485371	ECC-1	luminal epithelium:	n/a	chr6:76485150-76485167 chr6:76485150-76485166
18	NFIC	chr6:76484899-76485361	SK-N-SH	brain:	n/a	chr6:76485150-76485167 chr6:76485150-76485166
19	NR2F2	chr6:76484806-76485473	K562	blood:	n/a	n/a
20	NR2F2	chr6:76484868-76485452	K562	blood:	n/a	n/a
21	POLR2A	chr6:76484890-76485314	K562	blood:	n/a	n/a
22	POLR2A	chr6:76484697-76484731	K562	blood:	n/a	n/a
23	POLR2A	chr6:76484610-76484670	K562	blood:	n/a	n/a
24	RAD21	chr6:76484946-76485328	SK-N-SH_RA	brain:	n/a	n/a
25	RCOR1	chr6:76484920-76485420	K562	blood:	n/a	n/a
26	RCOR1	chr6:76484955-76485246	K562	blood:	n/a	n/a
27	TAL1	chr6:76484922-76485402	K562	blood:	n/a	n/a
28	TBL1XR1	chr6:76485005-76485377	K562	blood:	n/a	n/a
29	TEAD4	chr6:76484872-76485249	K562	blood:	n/a	n/a
30	TEAD4	chr6:76484915-76485427	K562	blood:	n/a	n/a
31	WRNIP1	chr6:76483213-76483436	GM12878	blood:	n/a	n/a
32	ZNF384	chr6:76484300-76484333	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:76459866..76461619-chr6:76483545..76486040,2	K562	blood:
2	chr6:76458193..76461486-chr6:76482230..76486067,4	MCF-7	breast:
3	chr6:76472032..76473906-chr6:76480774..76483408,2	MCF-7	breast:
4	chr6:76478606..76481168-chr6:76482628..76484653,2	MCF-7	breast:
5	chr6:76469142..76471151-chr6:76480358..76482124,2	MCF-7	breast:
6	chr6:76310227..76312452-chr6:76481370..76483085,2	K562	blood:

No data

Variant related genes	Relation type
RNU6-155P	TF binding region
ENSG00000196586	chromatin interactions
ENSG00000112701	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372375219	chr6:76481649-76481650	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs144931249	chr6:76481680-76481681	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs576878623	chr6:76481705-76481706	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs543937409	chr6:76481763-76481764	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs562166374	chr6:76481785-76481786	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs574071625	chr6:76481807-76481808	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs79199707	chr6:76481861-76481862	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs191151826	chr6:76481868-76481869	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs16886870	chr6:76481902-76481903	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs527540711	chr6:76481928-76481929	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs376684016	chr6:76481943-76481944	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs148614963	chr6:76481990-76481991	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs3798456	chr6:76481997-76481998	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs532954767	chr6:76482008-76482009	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs562159916	chr6:76482048-76482049	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs551070361	chr6:76482051-76482052	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs545197310	chr6:76482061-76482062	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs536635102	chr6:76482080-76482081	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs563376973	chr6:76482084-76482085	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs530861942	chr6:76482094-76482095	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs3798455	chr6:76482136-76482137	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs567155682	chr6:76482169-76482170	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs534183508	chr6:76482211-76482212	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs182634672	chr6:76482218-76482219	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs73751256	chr6:76482225-76482226	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563903479	chr6:76482381-76482382	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs577337677	chr6:76482398-76482399	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs537576077	chr6:76482401-76482402	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs555823997	chr6:76482443-76482444	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs368779159	chr6:76482524-76482525	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs574137356	chr6:76482543-76482544	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs187332155	chr6:76482568-76482569	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs190450816	chr6:76482636-76482637	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs572316206	chr6:76482651-76482652	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs183061836	chr6:76482694-76482695	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs564330271	chr6:76482709-76482710	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs188916372	chr6:76482755-76482756	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs75542101	chr6:76482840-76482841	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs562965458	chr6:76482898-76482899	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs530167928	chr6:76482973-76482974	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs12662248	chr6:76483009-76483010	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs369046370	chr6:76483064-76483065	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs35862467	chr6:76483076-76483077	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs59169035	chr6:76483085-76483086	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs568177088	chr6:76483167-76483168	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs554702506	chr6:76483200-76483201	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs375248150	chr6:76483201-76483202	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs552572227	chr6:76483205-76483206	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs58962413	chr6:76483208-76483209	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs3929685	chr6:76483222-76483223	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76461000-76485000	Weak transcription	Fetal Stomach	stomach
2	chr6:76461600-76485000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:76462400-76482200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr6:76463400-76485200	Weak transcription	Gastric	stomach
5	chr6:76464200-76485000	Weak transcription	Pancreas	Pancrea
6	chr6:76469400-76484800	Weak transcription	Left Ventricle	heart
7	chr6:76469400-76485200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:76470000-76485000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:76470200-76483200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr6:76470800-76486400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:76471000-76481800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr6:76472400-76485000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:76472600-76484600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:76472600-76528000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr6:76474000-76483000	Weak transcription	Brain Anterior Caudate	brain
16	chr6:76474600-76491000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:76477400-76485000	Weak transcription	Lung	lung
18	chr6:76478800-76482000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr6:76479600-76488200	Weak transcription	Fetal Intestine Small	intestine
20	chr6:76480800-76482200	Weak transcription	Brain Angular Gyrus	brain
21	chr6:76480800-76482400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:76480800-76491000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr6:76481400-76481800	Weak transcription	Brain Hippocampus Middle	brain
24	chr6:76481600-76482600	Enhancers	HUVEC	blood vessel
25	chr6:76481800-76483600	Enhancers	Brain Hippocampus Middle	brain
26	chr6:76481800-76483600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr6:76482000-76482400	Enhancers	Brain Substantia Nigra	brain
28	chr6:76482000-76483600	Enhancers	Brain Cingulate Gyrus	brain
29	chr6:76482200-76483400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr6:76482200-76483600	Enhancers	Brain Angular Gyrus	brain
31	chr6:76482400-76484800	Weak transcription	Brain Substantia Nigra	brain
32	chr6:76482400-76486800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:76482600-76491000	Weak transcription	HUVEC	blood vessel
34	chr6:76483000-76483400	Enhancers	Brain Anterior Caudate	brain
35	chr6:76483000-76483600	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr6:76483200-76483400	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr6:76483200-76483600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:76483400-76484800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr6:76483400-76484800	Weak transcription	Brain Anterior Caudate	brain
40	chr6:76483600-76484800	Weak transcription	Brain Angular Gyrus	brain
41	chr6:76483600-76484800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr6:76483600-76484800	Weak transcription	Brain Hippocampus Middle	brain
43	chr6:76483600-76484800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr6:76483800-76484400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr6:76484600-76485400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:76484800-76485400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:76484800-76485400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr6:76484800-76485400	Enhancers	Brain Angular Gyrus	brain
49	chr6:76484800-76485400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr6:76484800-76485400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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