Variant report

Variant	esv3350251
Chromosome Location	chr6:149917388-149917631
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	POLR2A	chr6:149914060-149923377	K562	blood:	n/a	n/a
2	POLR2A	chr6:149917354-149917663	HepG2	liver:	n/a	n/a
3	POLR2A	chr6:149917337-149917392	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149896082..149898363-chr6:149916792..149918827,2	K562	blood:
2	chr6:149910172..149914647-chr6:149914735..149918392,5	K562	blood:

Variant related genes	Relation type
ENSG00000233330	TF binding region
ENSG00000237502	chromatin interactions
ENSG00000233330	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530865612	chr6:149917392-149917393	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs12529619	chr6:149917409-149917410	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs376481238	chr6:149917417-149917418	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs188597751	chr6:149917441-149917442	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs9399692	chr6:149917447-149917448	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs547299854	chr6:149917452-149917453	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs567041102	chr6:149917468-149917469	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs192399541	chr6:149917469-149917470	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs555037063	chr6:149917487-149917488	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs9322192	chr6:149917528-149917529	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs537978175	chr6:149917537-149917538	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs536892292	chr6:149917553-149917554	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs376446032	chr6:149917563-149917564	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs557881569	chr6:149917619-149917620	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs370055474	chr6:149917626-149917627	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	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:133 , 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	chr6:149902200-149920200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:149902800-149929000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:149903800-149924200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr6:149905200-149926200	Strong transcription	Fetal Stomach	stomach
25	chr6:149905400-149919400	Strong transcription	Left Ventricle	heart
26	chr6:149905400-149920000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr6:149906000-149918800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:149906800-149922800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr6:149907000-149919600	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr6:149907000-149925800	Strong transcription	Fetal Thymus	thymus
31	chr6:149907400-149918000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:149907600-149925800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:149909000-149935000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:149910000-149935200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:149910600-149919400	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr6:149910800-149919000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr6:149910800-149919400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:149910800-149919400	Strong transcription	Osteobl	bone
39	chr6:149910800-149920000	Strong transcription	Duodenum Mucosa	Duodenum
40	chr6:149910800-149920800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:149910800-149926000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:149911000-149919400	Strong transcription	Placenta	Placenta
43	chr6:149911200-149918400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr6:149911200-149925800	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr6:149911400-149918400	Strong transcription	Brain Hippocampus Middle	brain
46	chr6:149911400-149919200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr6:149911400-149919400	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr6:149911400-149920000	Strong transcription	Adipose Nuclei	Adipose
49	chr6:149911400-149920000	Strong transcription	Fetal Muscle Trunk	muscle
50	chr6:149911400-149920600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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