Variant report

Variant	esv1842395
Chromosome Location	chr6:167488211-167492552
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167487932..167489942-chr6:167492963..167495055,2	K562	blood:

Extended variants
information (count: 143 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188333243	chr6:167488275-167488276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs180700892	chr6:167488283-167488284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546425750	chr6:167488296-167488297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550116558	chr6:167488321-167488322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530439327	chr6:167488502-167488503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149243372	chr6:167488762-167488763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564488301	chr6:167488773-167488774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571461222	chr6:167488792-167488793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144846438	chr6:167488858-167488859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9459863	chr6:167488881-167488882	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs528539962	chr6:167488918-167488919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532255770	chr6:167488960-167488961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547202396	chr6:167488961-167488962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370776070	chr6:167488973-167488974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187411180	chr6:167489042-167489043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140142902	chr6:167489105-167489106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554425458	chr6:167489230-167489231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550381630	chr6:167489312-167489313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs204299	chr6:167489316-167489317	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs192256171	chr6:167489415-167489416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558220353	chr6:167489434-167489435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576880621	chr6:167489471-167489472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534393031	chr6:167489531-167489532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149263102	chr6:167489542-167489543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs71678149	chr6:167489543-167489544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9366087	chr6:167489571-167489572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201268164	chr6:167489575-167489576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370355749	chr6:167489576-167489577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9356555	chr6:167489593-167489594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553631662	chr6:167489601-167489602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs9366088	chr6:167489603-167489604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs71571476	chr6:167489696-167489697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376720393	chr6:167489701-167489702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs202218150	chr6:167489721-167489722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368265395	chr6:167489722-167489723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9348222	chr6:167489735-167489736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145580077	chr6:167489751-167489752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566433139	chr6:167489793-167489794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542586027	chr6:167489794-167489795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73039135	chr6:167489806-167489807	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs113308927	chr6:167489914-167489915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546190178	chr6:167489916-167489917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185786687	chr6:167489972-167489973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77998741	chr6:167490030-167490031	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539175718	chr6:167490044-167490045	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559154524	chr6:167490102-167490103	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190384238	chr6:167490153-167490154	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548124099	chr6:167490234-167490235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569936115	chr6:167490256-167490257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs117457447	chr6:167490280-167490281	Weak transcription Enhancers	n/a	n/a	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
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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167487000-167494400	Enhancers	Primary B cells from peripheral blood	blood
2	chr6:167487400-167489000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:167487400-167492600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:167487600-167489800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:167487600-167492400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:167488200-167488400	Enhancers	Primary B cells from cord blood	blood
7	chr6:167488400-167491000	Weak transcription	Primary B cells from cord blood	blood
8	chr6:167489000-167489200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:167489200-167492200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:167489800-167490200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:167490000-167490200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:167490000-167490600	Enhancers	HepG2	liver
13	chr6:167490000-167491400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:167490000-167492600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr6:167490200-167491400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:167490200-167495600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:167490400-167490600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:167490600-167490800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:167490600-167491000	Enhancers	HSMM	muscle
20	chr6:167490600-167491200	Flanking Bivalent TSS/Enh	HepG2	liver
21	chr6:167490600-167491400	Enhancers	Fetal Muscle Leg	muscle
22	chr6:167490800-167491400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:167491000-167492800	Enhancers	GM12878-XiMat	blood
24	chr6:167491000-167494400	Enhancers	Primary B cells from cord blood	blood
25	chr6:167491200-167491800	Flanking Active TSS	HepG2	liver
26	chr6:167491400-167491600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:167491400-167492200	Weak transcription	Fetal Muscle Leg	muscle
28	chr6:167491600-167492400	Enhancers	Spleen	Spleen
29	chr6:167491600-167493200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:167491800-167492600	Enhancers	HepG2	liver
31	chr6:167492000-167503400	Weak transcription	Right Atrium	heart
32	chr6:167492200-167492400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr6:167492200-167493000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:167492200-167494000	Enhancers	Fetal Muscle Leg	muscle
35	chr6:167492400-167493400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr6:167492400-167493600	Weak transcription	Spleen	Spleen
37	chr6:167492400-167494000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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