Variant report

Variant	nsv823928
Chromosome Location	chr6:166838283-166844026
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr6:166838180-166838441	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr6:166843827-166843832	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:166832801..166835277-chr6:166837507..166839405,2	K562	blood:

Variant related genes	Relation type
RPS6KA2	TF binding region

Extended variants
information (count: 176 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:176 , 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	rs111778312	chr6:166838283-166838284	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs16898917	chr6:166838291-166838292	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs150768116	chr6:166838292-166838293	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs561010122	chr6:166838301-166838302	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs16898920	chr6:166838302-166838303	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs139590121	chr6:166838303-166838304	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs114049042	chr6:166838307-166838308	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs113021709	chr6:166838312-166838313	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs111620594	chr6:166838339-166838340	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs546290938	chr6:166838352-166838353	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs371593045	chr6:166838365-166838366	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs530786138	chr6:166838383-166838384	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs6914906	chr6:166838388-166838389	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs570817165	chr6:166838450-166838451	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73788301	chr6:166838457-166838458	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs60852819	chr6:166838509-166838510	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs372927055	chr6:166838518-166838519	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12194215	chr6:166838563-166838564	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs60110944	chr6:166838567-166838568	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs57269159	chr6:166838577-166838578	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs61138081	chr6:166838597-166838598	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs576300076	chr6:166838610-166838611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113012144	chr6:166838622-166838623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs59153074	chr6:166838686-166838687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs112090308	chr6:166838692-166838693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61484492	chr6:166838695-166838696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368922615	chr6:166838699-166838700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76291642	chr6:166838711-166838712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541118632	chr6:166838724-166838725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559523828	chr6:166838743-166838744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575064294	chr6:166838805-166838806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542464819	chr6:166838814-166838815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187429568	chr6:166838820-166838821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149852765	chr6:166838852-166838853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371118993	chr6:166838872-166838873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552242703	chr6:166838873-166838874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192226342	chr6:166838884-166838885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184249375	chr6:166838907-166838908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187177592	chr6:166838908-166838909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368947143	chr6:166838949-166838950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111306813	chr6:166838960-166838961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148581703	chr6:166839042-166839043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548371629	chr6:166839044-166839045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554105574	chr6:166839048-166839049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569801171	chr6:166839050-166839051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545430185	chr6:166839055-166839056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560376655	chr6:166839078-166839079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370366381	chr6:166839116-166839117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374711346	chr6:166839188-166839189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537346971	chr6:166839191-166839192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166808200-166911800	Weak transcription	Psoas Muscle	Psoas
2	chr6:166821800-166838600	Strong transcription	Muscle Satellite Cultured Cells	--
3	chr6:166822200-166838600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:166822400-166838400	Strong transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:166822400-166838600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:166822400-166838600	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr6:166824000-166901400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:166824600-166844800	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:166825000-166849200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:166825200-166853000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:166825200-166875800	Weak transcription	Colonic Mucosa	Colon
12	chr6:166826600-166848800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:166827000-166873400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:166827600-166867200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr6:166828200-166838400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:166829200-166838600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:166829800-166838600	Strong transcription	Lung	lung
18	chr6:166829800-166843800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:166829800-166845200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr6:166829800-166845600	Weak transcription	HSMMtube	muscle
21	chr6:166829800-166847600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr6:166829800-166851800	Weak transcription	Fetal Brain Male	brain
23	chr6:166830000-166838400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:166830000-166845400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:166830000-166866600	Weak transcription	Fetal Intestine Large	intestine
26	chr6:166830200-166838400	Strong transcription	Gastric	stomach
27	chr6:166830800-166838600	Strong transcription	Left Ventricle	heart
28	chr6:166831800-166838600	Strong transcription	Right Ventricle	heart
29	chr6:166833200-166864400	Weak transcription	Fetal Kidney	kidney
30	chr6:166833200-166879000	Weak transcription	NH-A	brain
31	chr6:166833400-166854800	Weak transcription	Primary B cells from cord blood	blood
32	chr6:166833400-166879000	Weak transcription	HSMM	muscle
33	chr6:166833600-166843200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr6:166833600-166843800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr6:166833600-166843800	Weak transcription	Fetal Intestine Small	intestine
36	chr6:166833600-166845400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr6:166833600-166859600	Weak transcription	HMEC	breast
38	chr6:166833800-166838600	Genic enhancers	Brain Cingulate Gyrus	brain
39	chr6:166834000-166866400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr6:166834200-166863800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr6:166834200-166879400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:166834400-166838600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:166834600-166862000	Weak transcription	NHDF-Ad	bronchial
44	chr6:166834800-166838600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:166835000-166838600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr6:166835000-166849000	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr6:166835200-166847600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:166835600-166838400	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr6:166835800-166838600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr6:166836400-166844000	Weak transcription	Thymus	Thymus

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