Variant report

Variant	nsv516902
Chromosome Location	chr6:107104374-107115394
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:107095658..107097842-chr6:107102032..107104797,2	MCF-7	breast:
2	chr6:107077055..107079267-chr6:107102941..107104490,2	K562	blood:
3	chr6:107106063..107107710-chr6:107116693..107119239,2	K562	blood:
4	chr6:107113408..107116233-chr6:107118216..107122010,4	K562	blood:

Variant related genes	Relation type
ENSG00000130348	chromatin interactions
ENSG00000130347	chromatin interactions

Extended variants
information (count: 420 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201292680	chr6:107104374-107104375	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs187594901	chr6:107104384-107104385	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs551118595	chr6:107104396-107104397	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs190731256	chr6:107104411-107104412	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs113209656	chr6:107104413-107104414	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs79353397	chr6:107104506-107104507	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs180730414	chr6:107104523-107104524	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs571638231	chr6:107104526-107104527	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs185080239	chr6:107104668-107104669	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs189938252	chr6:107104698-107104699	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs72613240	chr6:107104720-107104721	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs151289987	chr6:107104721-107104722	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs558713170	chr6:107104723-107104724	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs2883074	chr6:107104764-107104765	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs150441783	chr6:107104765-107104766	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs182669555	chr6:107104802-107104803	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs377122546	chr6:107104834-107104835	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs9384627	chr6:107104878-107104879	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs574955016	chr6:107104910-107104911	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs188358975	chr6:107104942-107104943	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs559479784	chr6:107104960-107104961	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs528412702	chr6:107104989-107104990	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs545280925	chr6:107105010-107105011	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs3127656	chr6:107105022-107105023	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs555207886	chr6:107105037-107105038	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs530425764	chr6:107105069-107105070	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs560146037	chr6:107105091-107105092	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs550118795	chr6:107105144-107105145	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs563840045	chr6:107105153-107105154	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs113729590	chr6:107105194-107105195	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs146313332	chr6:107105247-107105248	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs370849245	chr6:107105302-107105303	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs66665063	chr6:107105361-107105362	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs72946537	chr6:107105365-107105366	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs567037891	chr6:107105411-107105412	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs138931193	chr6:107105419-107105420	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs191986961	chr6:107105442-107105443	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs116905533	chr6:107105445-107105446	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs550986994	chr6:107105466-107105467	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs538258905	chr6:107105469-107105470	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs149312786	chr6:107105490-107105491	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs143597104	chr6:107105507-107105508	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs374542599	chr6:107105540-107105541	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs183803872	chr6:107105558-107105559	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs552935534	chr6:107105574-107105575	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs572993394	chr6:107105575-107105576	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs534853927	chr6:107105582-107105583	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs199602873	chr6:107105604-107105605	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs370364585	chr6:107105606-107105607	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs148045715	chr6:107105643-107105644	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	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
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Developmental delay	21147756	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
abnormal development	18461090	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:649 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:107078600-107106200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:107078600-107106600	Weak transcription	NH-A	brain
3	chr6:107078600-107110200	Weak transcription	NHLF	lung
4	chr6:107078600-107110800	Weak transcription	Fetal Heart	heart
5	chr6:107078600-107115200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:107078600-107125200	Weak transcription	Stomach Mucosa	stomach
7	chr6:107085000-107112800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:107085400-107114000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:107086400-107104400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:107087200-107112600	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr6:107087400-107106200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:107088000-107106000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr6:107088000-107108000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:107088200-107106200	Weak transcription	Small Intestine	intestine
15	chr6:107089000-107104600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr6:107089000-107105800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr6:107090000-107109000	Strong transcription	Liver	Liver
18	chr6:107090800-107108000	Weak transcription	Pancreas	Pancrea
19	chr6:107091400-107111600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr6:107092000-107104400	Weak transcription	Esophagus	oesophagus
21	chr6:107092000-107106200	Weak transcription	Psoas Muscle	Psoas
22	chr6:107092200-107107600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:107092600-107104400	Weak transcription	Spleen	Spleen
24	chr6:107092800-107116400	Weak transcription	Brain Substantia Nigra	brain
25	chr6:107094000-107106200	Weak transcription	HSMMtube	muscle
26	chr6:107094200-107106000	Weak transcription	NHDF-Ad	bronchial
27	chr6:107094600-107106200	Weak transcription	NHEK	skin
28	chr6:107096000-107105200	Strong transcription	Adipose Nuclei	Adipose
29	chr6:107096000-107106000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:107096000-107106000	Strong transcription	Placenta	Placenta
31	chr6:107096200-107104800	Strong transcription	Duodenum Mucosa	Duodenum
32	chr6:107096200-107105800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:107096400-107104800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr6:107096400-107104800	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr6:107096400-107105200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr6:107096400-107106000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr6:107096400-107106200	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr6:107096400-107109000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr6:107096600-107104800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr6:107096600-107104800	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr6:107096600-107106400	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr6:107097000-107105000	Weak transcription	HMEC	breast
43	chr6:107097000-107105800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr6:107097600-107105400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:107098000-107104800	Strong transcription	HepG2	liver
46	chr6:107098000-107105400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:107098200-107105200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:107098200-107105200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr6:107098200-107106200	Strong transcription	Fetal Thymus	thymus
50	chr6:107098600-107106800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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