Variant report

Variant	nsv969434
Chromosome Location	chr6:109645476-109649777
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr6:109648909-109648912	GM12878	blood:	n/a	n/a
2	BHLHE40	chr6:109648844-109649190	K562	blood:	n/a	chr6:109649138-109649151
3	HNF4A	chr6:109649720-109649933	HepG2	liver:	n/a	n/a
4	MAX	chr6:109646756-109647055	K562	blood:	n/a	n/a
5	POLR2A	chr6:109646629-109647148	HL-60	blood:	n/a	n/a
6	POLR2A	chr6:109648096-109648131	HepG2	liver:	n/a	n/a
7	POLR2A	chr6:109648033-109648089	HepG2	liver:	n/a	n/a
8	SPI1	chr6:109648941-109649095	K562	blood:	n/a	n/a
9	SPI1	chr6:109646712-109647154	HL-60	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:109627149..109629191-chr6:109642784..109645963,3	K562	blood:
2	chr6:109644113..109647625-chr6:109647816..109651076,4	K562	blood:
3	chr6:109629382..109632123-chr6:109644034..109645536,2	MCF-7	breast:
4	chr6:109630124..109632200-chr6:109645326..109646848,2	K562	blood:
5	chr6:109627149..109629191-chr6:109643019..109645963,3	K562	blood:
6	chr6:109641011..109643072-chr6:109645120..109647555,2	K562	blood:
7	chr6:109645286..109648549-chr6:109701457..109703772,3	K562	blood:
8	chr6:109649495..109651298-chr6:109651628..109654623,3	K562	blood:
9	chr6:109638384..109640553-chr6:109645179..109647068,2	K562	blood:

No data

Variant related genes	Relation type
RPL7P28	TF binding region
ENSG00000203799	chromatin interactions
ENSG00000135535	chromatin interactions
ENSG00000218632	chromatin interactions

Extended variants
information (count: 177 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541793856	chr6:109645514-109645515	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs555643582	chr6:109645520-109645521	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs377572900	chr6:109645544-109645545	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs550956046	chr6:109645571-109645572	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs541303288	chr6:109645586-109645587	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs181704672	chr6:109645591-109645592	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs186876558	chr6:109645592-109645593	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs564701115	chr6:109645611-109645612	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs543526166	chr6:109645642-109645643	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs189877348	chr6:109645680-109645681	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs182449308	chr6:109645802-109645803	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs138466763	chr6:109645815-109645816	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs374095347	chr6:109645819-109645820	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs548949810	chr6:109645846-109645847	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs9400275	chr6:109645853-109645854	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs7775345	chr6:109645857-109645858	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs551316852	chr6:109645898-109645899	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs541664125	chr6:109645932-109645933	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs78428553	chr6:109645944-109645945	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs536812141	chr6:109645948-109645949	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs60420596	chr6:109646029-109646030	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs60604271	chr6:109646050-109646051	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs535465861	chr6:109646082-109646083	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs555331892	chr6:109646105-109646106	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs572695708	chr6:109646133-109646134	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs541688243	chr6:109646159-109646160	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs558101831	chr6:109646165-109646166	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs187016849	chr6:109646166-109646167	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs368029726	chr6:109646182-109646183	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs2090888	chr6:109646216-109646217	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs528953387	chr6:109646221-109646222	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs191045563	chr6:109646235-109646236	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs559282586	chr6:109646346-109646347	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs528412637	chr6:109646347-109646348	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs551671910	chr6:109646373-109646374	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs567780035	chr6:109646385-109646386	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs182199761	chr6:109646430-109646431	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs550321175	chr6:109646432-109646433	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs71551367	chr6:109646449-109646450	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs145512530	chr6:109646466-109646467	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs535550783	chr6:109646519-109646520	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs185639092	chr6:109646585-109646586	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs566047990	chr6:109646640-109646641	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs190052326	chr6:109646665-109646666	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs148858456	chr6:109646670-109646671	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs142609671	chr6:109646673-109646674	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs536718377	chr6:109646674-109646675	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs372598501	chr6:109646683-109646684	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs546238031	chr6:109646685-109646686	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs559873965	chr6:109646739-109646740	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
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
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
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109629600-109654000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:109635600-109646600	Weak transcription	HSMMtube	muscle
3	chr6:109637400-109649800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:109640600-109646400	Weak transcription	Brain Angular Gyrus	brain
5	chr6:109640600-109648800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:109640800-109648600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr6:109641000-109653600	Weak transcription	Small Intestine	intestine
8	chr6:109641800-109647200	Weak transcription	Fetal Intestine Large	intestine
9	chr6:109642000-109647400	Weak transcription	Fetal Intestine Small	intestine
10	chr6:109643000-109645600	Enhancers	Primary B cells from cord blood	blood
11	chr6:109643400-109646600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr6:109643800-109647800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr6:109644600-109646600	Weak transcription	Brain Hippocampus Middle	brain
14	chr6:109644600-109646600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:109644600-109675200	Weak transcription	Primary T cells from cord blood	blood
16	chr6:109644800-109646000	Weak transcription	Brain Anterior Caudate	brain
17	chr6:109644800-109646600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:109644800-109646600	Weak transcription	Adipose Nuclei	Adipose
19	chr6:109644800-109646600	Weak transcription	Placenta	Placenta
20	chr6:109644800-109657400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:109645000-109646200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:109645200-109646000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr6:109645200-109646200	Weak transcription	Fetal Muscle Leg	muscle
24	chr6:109645200-109647200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr6:109645400-109646600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr6:109645400-109646800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:109645400-109647600	Weak transcription	K562	blood
28	chr6:109645400-109653600	Weak transcription	Spleen	Spleen
29	chr6:109645400-109662400	Weak transcription	Aorta	Aorta
30	chr6:109645600-109646800	Weak transcription	Primary B cells from cord blood	blood
31	chr6:109646000-109646600	Enhancers	Brain Anterior Caudate	brain
32	chr6:109646000-109647000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr6:109646200-109647000	Enhancers	Fetal Muscle Leg	muscle
34	chr6:109646400-109646600	Enhancers	Brain Angular Gyrus	brain
35	chr6:109646600-109646800	Enhancers	Primary hematopoietic stem cells	blood
36	chr6:109646600-109646800	Enhancers	Adipose Nuclei	Adipose
37	chr6:109646600-109646800	Enhancers	Brain Hippocampus Middle	brain
38	chr6:109646600-109646800	Enhancers	Placenta	Placenta
39	chr6:109646600-109647000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr6:109646600-109647000	Enhancers	HSMMtube	muscle
41	chr6:109646600-109647800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr6:109646800-109647000	Enhancers	Primary B cells from cord blood	blood
43	chr6:109646800-109647000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:109646800-109647200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:109646800-109647400	Weak transcription	Adipose Nuclei	Adipose
46	chr6:109647000-109647200	Weak transcription	Fetal Muscle Leg	muscle
47	chr6:109647000-109647400	Weak transcription	Primary B cells from cord blood	blood
48	chr6:109647000-109647600	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr6:109647000-109649600	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr6:109647200-109647600	Enhancers	Fetal Intestine Large	intestine

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