Variant report

Variant	esv16462
Chromosome Location	chr6:143615919-143619253
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:143381231..143383097-chr6:143619109..143620649,2	MCF-7	breast:
2	chr6:143578191..143580326-chr6:143614788..143617612,2	K562	blood:
3	chr6:143612544..143614515-chr6:143615465..143617568,2	K562	blood:

Variant related genes	Relation type
ENSG00000146416	chromatin interactions

Extended variants
information (count: 111 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537152690	chr6:143615930-143615931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145958858	chr6:143616000-143616001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576743212	chr6:143616021-143616022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541056175	chr6:143616085-143616086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115894952	chr6:143616111-143616112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139716310	chr6:143616132-143616133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142899057	chr6:143616159-143616160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191332462	chr6:143616167-143616168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531660855	chr6:143616188-143616189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549886486	chr6:143616219-143616220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565065085	chr6:143616222-143616223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532384343	chr6:143616227-143616228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547807974	chr6:143616240-143616241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566236697	chr6:143616266-143616267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9496563	chr6:143616271-143616272	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs370103869	chr6:143616273-143616274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548759565	chr6:143616339-143616340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80215141	chr6:143616346-143616347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79589325	chr6:143616352-143616353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182650040	chr6:143616357-143616358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570568362	chr6:143616363-143616364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372212762	chr6:143616383-143616384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566756692	chr6:143616403-143616404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544258310	chr6:143616413-143616414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552936729	chr6:143616418-143616419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs151118871	chr6:143616426-143616427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541738876	chr6:143616437-143616438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556711106	chr6:143616458-143616459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149851009	chr6:143616461-143616462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145724879	chr6:143616476-143616477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9496564	chr6:143616481-143616482	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs186621635	chr6:143616521-143616522	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191466374	chr6:143616524-143616525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141529595	chr6:143616605-143616606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183074732	chr6:143616650-143616651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147066930	chr6:143616662-143616663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9496565	chr6:143616718-143616719	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs531119067	chr6:143616901-143616902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552852137	chr6:143616906-143616907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570404876	chr6:143616915-143616916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534728497	chr6:143616955-143616956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114442520	chr6:143617118-143617119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35895505	chr6:143617155-143617156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376995125	chr6:143617181-143617182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568072008	chr6:143617201-143617202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147686681	chr6:143617282-143617283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556821089	chr6:143617358-143617359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs9496566	chr6:143617367-143617368	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs189096202	chr6:143617384-143617385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557932315	chr6:143617437-143617438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
lymphocytic leukemia	21291569	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
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143598600-143620200	Weak transcription	Brain Angular Gyrus	brain
2	chr6:143603200-143616800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr6:143603200-143622200	Weak transcription	Brain Hippocampus Middle	brain
4	chr6:143605600-143622000	Weak transcription	HepG2	liver
5	chr6:143607600-143622200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:143608400-143620800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:143608600-143620800	Weak transcription	Left Ventricle	heart
8	chr6:143608600-143624200	Weak transcription	Aorta	Aorta
9	chr6:143608800-143619800	Weak transcription	HMEC	breast
10	chr6:143608800-143624200	Weak transcription	Ovary	ovary
11	chr6:143608800-143629400	Weak transcription	NHEK	skin
12	chr6:143609400-143622400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:143609800-143621000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:143610000-143626000	Weak transcription	Fetal Intestine Large	intestine
15	chr6:143611200-143616800	Strong transcription	Liver	Liver
16	chr6:143612200-143617000	Weak transcription	Lung	lung
17	chr6:143613800-143624400	Weak transcription	Fetal Intestine Small	intestine
18	chr6:143615200-143616400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:143615400-143616800	Strong transcription	K562	blood
20	chr6:143615400-143643400	Weak transcription	HSMM	muscle
21	chr6:143616400-143618600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:143616800-143620200	Weak transcription	Liver	Liver
23	chr6:143616800-143624400	Weak transcription	K562	blood
24	chr6:143617200-143617400	Enhancers	Fetal Brain Male	brain
25	chr6:143617400-143618200	Enhancers	Colon Smooth Muscle	Colon
26	chr6:143617400-143618400	Weak transcription	Fetal Brain Male	brain
27	chr6:143618400-143619800	Enhancers	Fetal Brain Male	brain
28	chr6:143618600-143618800	Enhancers	Psoas Muscle	Psoas
29	chr6:143618600-143619600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr6:143618600-143620600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:143618800-143634600	Weak transcription	Psoas Muscle	Psoas
32	chr6:143619200-143620200	Enhancers	Fetal Brain Female	brain
33	chr6:143619200-143621400	Enhancers	Fetal Heart	heart

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