Variant report

Variant	esv3390013
Chromosome Location	chr6:166697249-166701057
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:166697039..166698696-chr6:166746797..166748508,2	K562	blood:
2	chr6:166694014..166696449-chr6:166697060..166698919,2	K562	blood:
3	chr6:166695795..166698539-chr6:166745761..166748508,2	K562	blood:
4	chr6:166680851..166682611-chr6:166697523..166699301,2	K562	blood:
5	chr6:166692609..166695514-chr6:166696167..166698560,2	K562	blood:
6	chr6:166698710..166701539-chr6:166750702..166753192,3	K562	blood:

Variant related genes	Relation type
ENSG00000233231	chromatin interactions

Extended variants
information (count: 214 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143468612	chr6:166697259-166697260	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs575000674	chr6:166697260-166697261	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs545454440	chr6:166697261-166697262	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs147977965	chr6:166697264-166697265	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs572504896	chr6:166697267-166697268	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs539289157	chr6:166697277-166697278	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs73788205	chr6:166697286-166697287	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs144127335	chr6:166697297-166697298	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372315750	chr6:166697340-166697341	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs201209498	chr6:166697343-166697344	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs375378540	chr6:166697354-166697355	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs74633247	chr6:166697372-166697373	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs183625350	chr6:166697377-166697378	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs187445587	chr6:166697378-166697379	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs34943376	chr6:166697403-166697404	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs147318783	chr6:166697405-166697406	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs551901123	chr6:166697444-166697445	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs374965217	chr6:166697454-166697455	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs566899760	chr6:166697512-166697513	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs534179366	chr6:166697524-166697525	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs117319153	chr6:166697526-166697527	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs34520937	chr6:166697534-166697535	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs76591017	chr6:166697593-166697594	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs538106934	chr6:166697596-166697597	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs369382496	chr6:166697613-166697614	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs571500315	chr6:166697656-166697657	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs539197712	chr6:166697707-166697708	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs191881793	chr6:166697713-166697714	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs184017193	chr6:166697714-166697715	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs540238538	chr6:166697786-166697787	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs9459634	chr6:166697826-166697827	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs9459635	chr6:166697842-166697843	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs188361638	chr6:166697845-166697846	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs34091140	chr6:166697862-166697863	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs114183754	chr6:166697878-166697879	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs557514787	chr6:166697894-166697895	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs73043903	chr6:166697910-166697911	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs545552357	chr6:166697936-166697937	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs568437178	chr6:166698006-166698007	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs527753905	chr6:166698022-166698023	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs549360065	chr6:166698110-166698111	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs140938883	chr6:166698113-166698114	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs143169968	chr6:166698119-166698120	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs150852180	chr6:166698126-166698127	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs191234032	chr6:166698143-166698144	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs538832154	chr6:166698158-166698159	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs553914282	chr6:166698163-166698164	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs139331253	chr6:166698192-166698193	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs80315801	chr6:166698194-166698195	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs555381190	chr6:166698200-166698201	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 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
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	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166687600-166704800	Weak transcription	Right Atrium	heart
2	chr6:166691200-166706000	Weak transcription	Brain Anterior Caudate	brain
3	chr6:166691400-166698200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr6:166696200-166697400	Weak transcription	GM12878-XiMat	blood
5	chr6:166697400-166697800	Enhancers	GM12878-XiMat	blood
6	chr6:166697400-166699200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:166697800-166698800	Weak transcription	GM12878-XiMat	blood
8	chr6:166698000-166698400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:166698000-166699000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:166698200-166698400	Enhancers	Brain Cingulate Gyrus	brain
11	chr6:166698200-166699000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr6:166698400-166698800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:166698400-166699000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:166698400-166705800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr6:166698600-166698800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
16	chr6:166698800-166699000	Bivalent Enhancer	K562	blood
17	chr6:166698800-166699600	Enhancers	GM12878-XiMat	blood
18	chr6:166698800-166700200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:166699200-166700200	Enhancers	Primary B cells from peripheral blood	blood
20	chr6:166699200-166700400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:166699200-166700400	Enhancers	Primary B cells from cord blood	blood
22	chr6:166699400-166700600	Enhancers	Spleen	Spleen
23	chr6:166699600-166700000	Weak transcription	GM12878-XiMat	blood
24	chr6:166700000-166700200	Enhancers	GM12878-XiMat	blood
25	chr6:166700000-166700800	Enhancers	Primary hematopoietic stem cells	blood
26	chr6:166700200-166700600	Enhancers	Fetal Muscle Trunk	muscle
27	chr6:166700200-166700600	Bivalent Enhancer	K562	blood
28	chr6:166700200-166700800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:166700200-166700800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr6:166700200-166700800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:166700200-166700800	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr6:166700200-166700800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:166700200-166701000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr6:166700200-166701000	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr6:166700200-166701000	Flanking Active TSS	GM12878-XiMat	blood
36	chr6:166700400-166700600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr6:166700400-166700600	Enhancers	Liver	Liver
38	chr6:166700400-166700800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
39	chr6:166700400-166700800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr6:166700400-166700800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr6:166700400-166700800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr6:166700400-166700800	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr6:166700400-166700800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:166700400-166701000	Bivalent Enhancer	HepG2	liver
45	chr6:166700600-166700800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:166700600-166701000	Enhancers	K562	blood
47	chr6:166700800-166701200	Enhancers	Primary B cells from cord blood	blood
48	chr6:166700800-166701200	Enhancers	Primary B cells from peripheral blood	blood
49	chr6:166701000-166701200	Active TSS	GM12878-XiMat	blood

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