Variant report

Variant	nsv965669
Chromosome Location	chr6:161410268-161411309
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr6:161410876-161410997	K562	blood:	n/a	n/a
2	IRF1	chr6:161411201-161414520	K562	blood:	n/a	chr6:161412699-161412713 chr6:161412677-161412691 chr6:161413152-161413166
3	KAP1	chr6:161411200-161412225	K562	blood:	n/a	n/a
4	KAP1	chr6:161410421-161410896	K562	blood:	n/a	n/a
5	MAX	chr6:161411067-161411426	K562	blood:	n/a	n/a
6	POLR2A	chr6:161410735-161411360	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr6:161410057-161414247	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr6:161410637-161414109	IMR90	lung:	n/a	n/a
9	RFX5	chr6:161411122-161411680	K562	blood:	n/a	n/a
10	STAT3	chr6:161410265-161410427	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:161411013-161411063	A549	lung:	n/a
2	chr6:161411013-161411063	MCF10A-Er-Src	breast:	n/a
3	chr6:161411013-161411063	SKMC	muscle:	n/a
4	chr6:161411013-161411063	GM12891	blood:	n/a
5	chr6:161411013-161411063	HMEC	breast:	n/a
6	chr6:161411013-161411063	AG09309	skin:	n/a
7	chr6:161411013-161411063	HCT-116	colon:	n/a
8	chr6:161411013-161411063	K562	blood:	n/a
9	chr6:161411013-161411063	NHDF-neo	bronchial:	n/a
10	chr6:161411013-161411063	NHBE	bronchial:	n/a
11	chr6:161411013-161411063	SK-N-SH	brain:	n/a
12	chr6:161411013-161411063	Caco-2	colon:	n/a
13	chr6:161411013-161411063	HRCEpiC	kidney:	n/a
14	chr6:161411013-161411063	ProgFib	skin:	n/a
15	chr6:161411013-161411063	HEK293	kidney:	embryo
16	chr6:161411013-161411063	AoSMC	blood vessel:	n/a
17	chr6:161411013-161411063	LNCaP	prostate:	n/a
18	chr6:161411013-161411063	Jurkat	blood:	n/a
19	chr6:161411013-161411063	HIPEpiC	eye:	n/a
20	chr6:161411013-161411063	HPAEpiC	pulmonary alveolar:	n/a
21	chr6:161411013-161411063	NT2-D1	testis:	n/a
22	chr6:161411013-161411063	SK-N-SH_RA	brain:	n/a
23	chr6:161411013-161411063	HAEpiC	amniotic membrane:	n/a
24	chr6:161411013-161411063	HEEpiC	esophagus:	n/a
25	chr6:161411013-161411063	GM12878	blood:	n/a
26	chr6:161411013-161411063	BE2_C	brain:	n/a
27	chr6:161411013-161411063	HepG2	liver:	n/a
28	chr6:161411013-161411063	GM12892	blood:	n/a
29	chr6:161411013-161411063	GM19239	blood:	n/a
30	chr6:161411013-161411063	T-47D	breast:	n/a
31	chr6:161411013-161411063	IMR90	lung:	fetal
32	chr6:161411013-161411063	PANC-1	pancreas:	n/a
33	chr6:161411013-161411063	BJ	skin:	n/a
34	chr6:161411013-161411063	ovcar-3	ovarian:	n/a
35	chr6:161411013-161411063	HNPCEpiC	eye:	n/a
36	chr6:161411013-161411063	AG04449	skin:	fetal
37	chr6:161411013-161411063	ECC-1	luminal epithelium:	n/a
38	chr6:161411013-161411063	AG10803	skin:	n/a
39	chr6:161411013-161411063	H1-hESC	embryonic stem cell:	embryo
40	chr6:161411013-161411063	CMK	blood:	n/a
41	chr6:161411013-161411063	SAEC	small airway:	n/a
42	chr6:161411013-161411063	HRE	kidney:	n/a
43	chr6:161411013-161411063	RPTEC	kidney:	n/a
44	chr6:161411013-161411063	NB4	blood:	n/a
45	chr6:161411013-161411063	SK-N-MC	brain:	n/a
46	chr6:161411013-161411063	AG09319	gingival:	n/a
47	chr6:161411013-161411063	HCM	heart:	n/a
48	chr6:161411013-161411063	HL-60	blood:	n/a
49	chr6:161411013-161411063	AG04450	lung:	fetal
50	chr6:161411013-161411063	U87	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr6:161381731..161384627-chr6:161408472..161410807,2	K562	blood:
2	chr6:161409929..161412719-chr6:161465318..161467396,2	K562	blood:
3	chr6:161349966..161354183-chr6:161410810..161413824,4	MCF-7	breast:
4	chr6:161407945..161411607-chr6:161664296..161666241,4	K562	blood:
5	chr6:161408989..161411018-chr6:161411162..161414602,4	MCF-7	breast:
6	chr6:161409514..161411733-chr6:161434300..161435929,2	K562	blood:

No data

Variant related genes	Relation type
MAP3K4	TF binding region
MAP3K4	CpG island
ENSG00000272841	chromatin interactions
ENSG00000231863	chromatin interactions
ENSG00000085511	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553261695	chr6:161410268-161410269	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs568303999	chr6:161410269-161410270	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs189030816	chr6:161410280-161410281	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs9458075	chr6:161410327-161410328	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs182065522	chr6:161410539-161410540	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs377190116	chr6:161410563-161410564	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs62438069	chr6:161410587-161410588	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs374150236	chr6:161410589-161410590	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs80170790	chr6:161410590-161410591	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs398003226	chr6:161410601-161410602	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs150302748	chr6:161410602-161410603	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs77461035	chr6:161410603-161410604	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs35671722	chr6:161410693-161410694	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs146539359	chr6:161410796-161410797	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs141236215	chr6:161410797-161410798	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs145046707	chr6:161410840-161410841	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs186363135	chr6:161410853-161410854	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs191151856	chr6:161410871-161410872	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs610538	chr6:161410911-161410912	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs610638	chr6:161410978-161410979	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs546221225	chr6:161411014-161411015	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs180729969	chr6:161411056-161411057	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs186578778	chr6:161411068-161411069	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs568361320	chr6:161411077-161411078	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs191029582	chr6:161411087-161411088	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs561179461	chr6:161411095-161411096	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs138834838	chr6:161411097-161411098	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs547086520	chr6:161411150-161411151	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs35824415	chr6:161411155-161411156	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs372776266	chr6:161411214-161411215	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs149085015	chr6:161411228-161411229	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs539180904	chr6:161411278-161411279	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Renal cell carcinoma	18592004	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
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161408200-161410800	Weak transcription	K562	blood
2	chr6:161408200-161411800	Weak transcription	Fetal Muscle Leg	muscle
3	chr6:161409400-161411400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:161409600-161411000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:161409800-161410800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:161410800-161411200	Enhancers	K562	blood
7	chr6:161410800-161411600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:161411000-161411600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:161411200-161411400	Flanking Active TSS	K562	blood
10	chr6:161411200-161411600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:161411200-161414000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:161411200-161414600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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