Variant report

Variant	nsv970171
Chromosome Location	chr6:149915071-149915663
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr6:149915186-149915484	K562	blood:	n/a	n/a
2	MYC	chr6:149915609-149915642	MCF-7	breast:	n/a	n/a
3	POLR2A	chr6:149915127-149915681	GM12878	blood:	n/a	n/a
4	POLR2A	chr6:149915287-149915518	HepG2	liver:	n/a	n/a
5	POLR2A	chr6:149915113-149915677	GM12891	blood:	n/a	n/a
6	POLR2A	chr6:149915269-149915439	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr6:149915218-149915346	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:149915024-149915709	GM12892	blood:	n/a	n/a
9	POLR2A	chr6:149915060-149915775	GM12891	blood:	n/a	n/a
10	POLR2A	chr6:149915007-149915731	K562	blood:	n/a	n/a
11	POLR2A	chr6:149915115-149915786	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:149914876-149915570	K562	blood:	n/a	n/a
13	POLR2A	chr6:149915201-149915686	GM12892	blood:	n/a	n/a
14	POLR2A	chr6:149915119-149915482	GM12878	blood:	n/a	n/a
15	POLR2A	chr6:149915188-149915399	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr6:149915083-149915738	GM12891	blood:	n/a	n/a
17	POLR2A	chr6:149915297-149915356	Gliobla	brain:	n/a	n/a
18	POLR2A	chr6:149915261-149915607	GM12891	blood:	n/a	n/a
19	POLR2A	chr6:149915097-149915340	K562	blood:	n/a	n/a
20	POLR2A	chr6:149915314-149915383	A549	lung:	n/a	n/a
21	POLR2A	chr6:149915237-149915391	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr6:149915154-149915457	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr6:149915103-149915683	GM12892	blood:	n/a	n/a
24	POLR2A	chr6:149915509-149915686	GM12878	blood:	n/a	n/a
25	POLR2A	chr6:149915160-149915552	MCF-7	breast:	n/a	n/a
26	POLR2A	chr6:149914917-149915806	GM12892	blood:	n/a	n/a
27	POLR2A	chr6:149915214-149915382	MCF-7	breast:	n/a	n/a
28	POLR2A	chr6:149914769-149915427	HepG2	liver:	n/a	n/a
29	POLR2A	chr6:149915242-149915702	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr6:149914967-149915454	HepG2	liver:	n/a	n/a
31	POLR2A	chr6:149915204-149915690	GM12878	blood:	n/a	n/a
32	POLR2A	chr6:149915245-149915561	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr6:149915154-149915179	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr6:149915189-149915669	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr6:149915248-149915584	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr6:149914060-149923377	K562	blood:	n/a	n/a
37	POU2F2	chr6:149915256-149915682	GM12891	blood:	n/a	n/a
38	ZBTB33	chr6:149915208-149915720	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149910172..149914647-chr6:149914735..149918392,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000202343	TF binding region
RPS18P9	TF binding region
ENSG00000233330	TF binding region
ENSG00000233330	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555097136	chr6:149915074-149915075	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs575038981	chr6:149915098-149915099	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs537786606	chr6:149915121-149915122	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs557226034	chr6:149915131-149915132	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs558892557	chr6:149915177-149915178	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs545377961	chr6:149915185-149915186	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs185861332	chr6:149915260-149915261	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs572865786	chr6:149915269-149915270	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs541663581	chr6:149915291-149915292	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs190663376	chr6:149915308-149915309	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs530609591	chr6:149915317-149915318	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs73781245	chr6:149915332-149915333	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs564354015	chr6:149915355-149915356	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs34613974	chr6:149915394-149915395	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs397740702	chr6:149915397-149915398	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs377303447	chr6:149915421-149915422	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs369031406	chr6:149915502-149915503	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs532586869	chr6:149915522-149915523	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs552573199	chr6:149915557-149915558	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs566065130	chr6:149915566-149915567	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs147425878	chr6:149915573-149915574	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs548382079	chr6:149915579-149915580	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs568681639	chr6:149915591-149915592	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs537223103	chr6:149915608-149915609	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs557265061	chr6:149915650-149915651	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs9765961	chr6:149915654-149915655	Strong transcription Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

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
Autism	22495311	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
Follicular lymphoma	20505157	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
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149888600-149922000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:149889000-149928000	Weak transcription	Stomach Mucosa	stomach
3	chr6:149889200-149919600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:149889400-149924200	Weak transcription	Fetal Heart	heart
5	chr6:149889600-149931400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr6:149893800-149926600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr6:149894200-149920000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr6:149895600-149923200	Strong transcription	Dnd41	blood
9	chr6:149898400-149919200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:149898600-149927400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:149899200-149929800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:149900200-149926800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:149900400-149923200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:149901000-149919200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:149901000-149920200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:149901000-149923200	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr6:149901000-149923200	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr6:149901200-149920000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:149901600-149919800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:149901800-149919400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr6:149902200-149915200	Weak transcription	HMEC	breast
22	chr6:149902200-149920200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr6:149902800-149929000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:149903800-149924200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:149905200-149926200	Strong transcription	Fetal Stomach	stomach
26	chr6:149905400-149919400	Strong transcription	Left Ventricle	heart
27	chr6:149905400-149920000	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr6:149906000-149918800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:149906800-149922800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:149907000-149919600	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr6:149907000-149925800	Strong transcription	Fetal Thymus	thymus
32	chr6:149907400-149916400	Strong transcription	Stomach Smooth Muscle	stomach
33	chr6:149907400-149918000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:149907600-149925800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:149909000-149935000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:149910000-149935200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:149910600-149916200	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr6:149910600-149919400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr6:149910800-149916400	Strong transcription	Primary B cells from cord blood	blood
40	chr6:149910800-149919000	Strong transcription	Primary B cells from peripheral blood	blood
41	chr6:149910800-149919400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:149910800-149919400	Strong transcription	Osteobl	bone
43	chr6:149910800-149920000	Strong transcription	Duodenum Mucosa	Duodenum
44	chr6:149910800-149920800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:149910800-149926000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:149911000-149916600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr6:149911000-149919400	Strong transcription	Placenta	Placenta
48	chr6:149911200-149915200	Strong transcription	Small Intestine	intestine
49	chr6:149911200-149918400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr6:149911200-149925800	Strong transcription	Primary neutrophils fromperipheralblood	blood

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