Variant report

Variant	nsv970026
Chromosome Location	chr6:4948264-4949041
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	chr6:4948514..4950542-chr6:5000037..5002807,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147741293	chr6:4948267-4948268	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs180710772	chr6:4948271-4948272	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572423037	chr6:4948299-4948300	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541453220	chr6:4948301-4948302	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373137971	chr6:4948304-4948305	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs578019846	chr6:4948342-4948343	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543730667	chr6:4948350-4948351	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6597099	chr6:4948370-4948371	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs564929284	chr6:4948372-4948373	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529088611	chr6:4948436-4948437	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542429283	chr6:4948457-4948458	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559412343	chr6:4948463-4948464	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575238062	chr6:4948467-4948468	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs55939500	chr6:4948534-4948535	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528156805	chr6:4948548-4948549	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185723631	chr6:4948581-4948582	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570904496	chr6:4948588-4948589	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533488286	chr6:4948602-4948603	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs386696457	chr6:4948613-4948614	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3789798	chr6:4948614-4948615	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs76237781	chr6:4948652-4948653	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188574258	chr6:4948719-4948720	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72542803	chr6:4948769-4948770	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76511520	chr6:4948770-4948771	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs33942337	chr6:4948771-4948772	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566199444	chr6:4948776-4948777	Enhancers Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374080671	chr6:4948820-4948821	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs3789799	chr6:4948833-4948834	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs11753718	chr6:4948838-4948839	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs3789800	chr6:4948858-4948859	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3789801	chr6:4948891-4948892	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs557243679	chr6:4949003-4949004	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181771818	chr6:4949011-4949012	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370266348	chr6:4949018-4949019	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559258728	chr6:4949021-4949022	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551007747	chr6:4949036-4949037	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4933600-4950000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:4938000-4956400	Strong transcription	Primary B cells from peripheral blood	blood
3	chr6:4941200-4949600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr6:4942200-4957200	Strong transcription	Fetal Intestine Small	intestine
5	chr6:4942400-4956800	Weak transcription	Small Intestine	intestine
6	chr6:4942600-4953800	Weak transcription	Dnd41	blood
7	chr6:4942600-4956200	Strong transcription	Primary B cells from cord blood	blood
8	chr6:4942800-4948600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:4942800-4951200	Weak transcription	Stomach Mucosa	stomach
10	chr6:4942800-4956600	Strong transcription	Primary T cells from cord blood	blood
11	chr6:4943000-4954600	Weak transcription	Fetal Kidney	kidney
12	chr6:4943200-4948400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:4943200-4954000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr6:4943200-4955800	Weak transcription	Brain Substantia Nigra	brain
15	chr6:4943200-4956000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:4943200-4956800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr6:4943400-4948800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:4943400-4953800	Weak transcription	NH-A	brain
19	chr6:4943400-4954200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:4943400-4956000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:4943400-4956200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr6:4943400-4956200	Weak transcription	HUVEC	blood vessel
23	chr6:4943400-4957800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr6:4943600-4950800	Strong transcription	GM12878-XiMat	blood
25	chr6:4943600-4954000	Weak transcription	HMEC	breast
26	chr6:4943600-4955600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr6:4943600-4955600	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr6:4943600-4959600	Weak transcription	NHDF-Ad	bronchial
29	chr6:4943600-4970000	Weak transcription	Psoas Muscle	Psoas
30	chr6:4943800-4948800	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr6:4943800-4951000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr6:4943800-4953000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr6:4943800-4954000	Weak transcription	HSMM	muscle
34	chr6:4943800-4956600	Strong transcription	Fetal Muscle Trunk	muscle
35	chr6:4943800-4956800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr6:4943800-4956800	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr6:4944000-4948600	Weak transcription	HSMMtube	muscle
38	chr6:4944000-4949800	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr6:4944000-4957200	Strong transcription	Fetal Muscle Leg	muscle
40	chr6:4944000-4957400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:4944200-4950200	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr6:4944200-4950800	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr6:4944200-4955000	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr6:4944200-4955200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr6:4944400-4950400	Strong transcription	Fetal Intestine Large	intestine
46	chr6:4944400-4950800	Strong transcription	Gastric	stomach
47	chr6:4944400-4954800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr6:4944400-4954800	Strong transcription	Fetal Stomach	stomach
49	chr6:4944400-4956400	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr6:4944400-4956600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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