Variant report

Variant	esv3400801
Chromosome Location	chr6:167657447-167657836
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	chr6:167657735-167658813	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr6:167657469-167657749	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr6:167657451-167658008	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr6:167657508-167658006	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000231720	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9366121	chr6:167657449-167657450	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188626193	chr6:167657459-167657460	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs574185209	chr6:167657485-167657486	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs541953944	chr6:167657503-167657504	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs559916246	chr6:167657525-167657526	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs563090163	chr6:167657526-167657527	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs530544875	chr6:167657607-167657608	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs77144968	chr6:167657611-167657612	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs9366122	chr6:167657612-167657613	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs552568141	chr6:167657625-167657626	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs9355622	chr6:167657676-167657677	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs9348244	chr6:167657677-167657678	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs9364901	chr6:167657686-167657687	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs9348245	chr6:167657687-167657688	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs9348246	chr6:167657691-167657692	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs111922152	chr6:167657692-167657693	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs6934587	chr6:167657700-167657701	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs9459944	chr6:167657716-167657717	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs568719923	chr6:167657756-167657757	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs535906934	chr6:167657757-167657758	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs185990800	chr6:167657758-167657759	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs569120315	chr6:167657772-167657773	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs539841155	chr6:167657834-167657835	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Developmental delay	21147756	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167650000-167658400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:167652800-167657600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:167652800-167657600	Weak transcription	Fetal Thymus	thymus
4	chr6:167652800-167657800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:167653800-167657600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:167654800-167664800	Weak transcription	Right Atrium	heart
7	chr6:167655200-167660000	Enhancers	Fetal Brain Male	brain
8	chr6:167655600-167657800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:167655600-167659000	Enhancers	HepG2	liver
10	chr6:167655600-167660600	Enhancers	Fetal Muscle Leg	muscle
11	chr6:167655800-167657800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:167656000-167657600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr6:167656000-167657600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:167656000-167657800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr6:167656000-167657800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr6:167656200-167658000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:167656400-167657600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr6:167656400-167658600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr6:167656600-167657600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:167656600-167657600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:167656800-167658000	Enhancers	Fetal Muscle Trunk	muscle
22	chr6:167656800-167661000	Weak transcription	Fetal Intestine Small	intestine
23	chr6:167657200-167657600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr6:167657200-167659200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:167657200-167660200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr6:167657200-167660200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:167657400-167657800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr6:167657400-167658200	Flanking Active TSS	Fetal Brain Female	brain
29	chr6:167657400-167658600	Enhancers	Brain Germinal Matrix	brain
30	chr6:167657400-167660000	Enhancers	H9 Cell Line	embryonic stem cell
31	chr6:167657600-167657800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr6:167657600-167658000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:167657600-167658200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:167657600-167658400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr6:167657600-167658400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr6:167657600-167658600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:167657600-167658600	Enhancers	Fetal Thymus	thymus
38	chr6:167657600-167659000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:167657600-167659000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr6:167657600-167659200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr6:167657600-167659200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:167657800-167658000	Bivalent Enhancer	Fetal Stomach	stomach
43	chr6:167657800-167658200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr6:167657800-167658600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr6:167657800-167658800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:167657800-167659000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:167657800-167659000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr6:167657800-167659000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr6:167657800-167659400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links