Variant report

Variant	nsv1025409
Chromosome Location	chr6:72175998-72205044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:72189935..72191890-chr6:72192010..72194805,2	K562	blood:
2	chr14:98691855..98692355-chr6:72199022..72199559,2	MCF-7	breast:
3	chr6:72186892..72189303-chr6:72189669..72192556,2	K562	blood:
4	chr6:72194308..72195999-chr6:72198421..72200514,2	K562	blood:
5	chr6:72186892..72189303-chr6:72189669..72192556,2	K562	blood:
6	chr6:72093320..72094313-chr6:72192220..72193121,6	MCF-7	breast:
7	chr6:72199284..72202242-chr6:72207805..72209852,2	MCF-7	breast:
8	chr6:72200765..72203412-chr6:72209014..72210877,2	MCF-7	breast:
9	chr6:72194308..72195999-chr6:72198421..72200514,2	K562	blood:
10	chr6:72129371..72131529-chr6:72187400..72190049,2	MCF-7	breast:
11	chr6:72189935..72191890-chr6:72192010..72194805,2	K562	blood:
12	chr6:72093333..72094331-chr6:72192117..72193060,3	MCF-7	breast:
13	chr6:72192391..72193083-chr6:72219581..72220329,2	MCF-7	breast:

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-B3GAT2-6	chr6:72185113-72185178	ucscGeneNc_uc003pfz_1
2	lnc-B3GAT2-6	chr6:72182808-72182983	NONHSAT113516
3	lnc-B3GAT2-6	chr6:72183744-72183816	NONHSAT113516
4	lnc-B3GAT2-6	chr6:72185113-72185178	NONHSAT113515
5	lnc-B3GAT2-6	chr6:72186490-72186690	NONHSAT113501
6	lnc-B3GAT2-6	chr6:72182901-72182983	NONHSAT113517
7	lnc-B3GAT2-6	chr6:72182834-72182983	NONHSAT113501
8	lnc-B3GAT2-6	chr6:72180870-72182983	ucscGeneNc_uc003pfz_1
9	lnc-B3GAT2-6	chr6:72186490-72186691	NONHSAT113517
10	lnc-B3GAT2-6	chr6:72183744-72183867	NONHSAT113517
11	lnc-B3GAT2-6	chr6:72186490-72187193	NONHSAT113515
12	lnc-B3GAT2-6	chr6:72186490-72187169	ucscGeneNc_uc003pfz_1
13	lnc-B3GAT2-6	chr6:72183744-72183816	ucscGeneNc_uc003pfz_1
14	lnc-B3GAT2-6	chr6:72186490-72186527	NONHSAT113500
15	lnc-OGFRL1-3	chr6:72188949-72189187	XLOC_005344
16	lnc-B3GAT2-6	chr6:72180870-72182983	NONHSAT113515
17	lnc-B3GAT2-6	chr6:72182834-72182983	NONHSAT113500
18	lnc-B3GAT2-6	chr6:72185113-72185178	NONHSAT113517
19	lnc-B3GAT2-6	chr6:72186490-72186691	NONHSAT113516
20	lnc-B3GAT2-6	chr6:72183744-72183867	NONHSAT113500
21	lnc-OGFRL1-3	chr6:72185562-72185594	XLOC_005344
22	lnc-B3GAT2-6	chr6:72183744-72183816	NONHSAT113515
23	lnc-B3GAT2-6	chr6:72183744-72183867	NONHSAT113501

No data

Variant related genes	Relation type
ENSG00000233237	chromatin interactions
RNF103	miRNA target sites
RBM5	miRNA target sites

Extended variants
information (count: 1125 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1125 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1738072	chr6:72175998-72175999	ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs534632177	chr6:72176048-72176049	Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs200445845	chr6:72176076-72176077	Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs569100880	chr6:72176150-72176151	Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs546476105	chr6:72176156-72176157	Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs536435919	chr6:72176192-72176193	Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs554436883	chr6:72176241-72176242	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs149859371	chr6:72176265-72176266	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs144831357	chr6:72176304-72176305	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs558922828	chr6:72176320-72176321	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs576816600	chr6:72176357-72176358	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs386702545	chr6:72176360-72176361	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs184223758	chr6:72176361-72176362	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs530261311	chr6:72176389-72176390	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs77618039	chr6:72176410-72176411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148622252	chr6:72176437-72176438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538826818	chr6:72176489-72176490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527989742	chr6:72176513-72176514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552553716	chr6:72176538-72176539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112033421	chr6:72176557-72176558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375279979	chr6:72176575-72176576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373802069	chr6:72176577-72176578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571311856	chr6:72176584-72176585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532124502	chr6:72176587-72176588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540160201	chr6:72176629-72176630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76126227	chr6:72176659-72176660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568991877	chr6:72176698-72176699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555769762	chr6:72176735-72176736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535940578	chr6:72176763-72176764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111701226	chr6:72176803-72176804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192405930	chr6:72176827-72176828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566509732	chr6:72176913-72176914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183415835	chr6:72176930-72176931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575258671	chr6:72176957-72176958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188809570	chr6:72176959-72176960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373329348	chr6:72176970-72176971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537830105	chr6:72177019-72177020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377452508	chr6:72177024-72177025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554577771	chr6:72177025-72177026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191608254	chr6:72177026-72177027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574613494	chr6:72177027-72177028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541910052	chr6:72177040-72177041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560745399	chr6:72177056-72177057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572858755	chr6:72177089-72177090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546506088	chr6:72177097-72177098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541411278	chr6:72177101-72177102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs80345547	chr6:72177111-72177112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79884188	chr6:72177115-72177116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76921842	chr6:72177139-72177140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115136011	chr6:72177148-72177149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Ependymoma	16718352	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
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:509 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:72174000-72176400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:72175600-72176000	Enhancers	NHEK	skin
3	chr6:72175600-72176600	Enhancers	HMEC	breast
4	chr6:72175800-72176000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
5	chr6:72175800-72176200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:72175800-72176600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:72175800-72176600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:72175800-72177600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:72176000-72176400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr6:72176000-72176400	Flanking Active TSS	NHEK	skin
11	chr6:72176000-72176600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:72176200-72178400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:72176400-72177200	Enhancers	NHEK	skin
14	chr6:72176400-72178000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:72176400-72178200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr6:72176600-72177600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:72176600-72178200	Weak transcription	HMEC	breast
18	chr6:72176600-72178600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:72176600-72178800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:72177200-72178600	Weak transcription	NHEK	skin
21	chr6:72177400-72178200	Enhancers	Osteobl	bone
22	chr6:72177600-72178200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:72177600-72178200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:72177600-72178200	Enhancers	NHDF-Ad	bronchial
25	chr6:72177600-72178800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:72177800-72178200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:72177800-72178200	Enhancers	NH-A	brain
28	chr6:72177800-72178400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr6:72177800-72178400	Enhancers	HSMM	muscle
30	chr6:72177800-72179400	Enhancers	Fetal Lung	lung
31	chr6:72177800-72179800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr6:72178000-72178600	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr6:72178000-72178800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:72178000-72179800	Enhancers	NHLF	lung
35	chr6:72178200-72178400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:72178200-72178600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:72178200-72178600	Flanking Active TSS	NHDF-Ad	bronchial
38	chr6:72178200-72179200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:72178200-72179200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr6:72178200-72179400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:72178200-72179400	Flanking Active TSS	NH-A	brain
42	chr6:72178200-72179400	Flanking Active TSS	Osteobl	bone
43	chr6:72178200-72179600	Enhancers	Fetal Kidney	kidney
44	chr6:72178200-72179600	Enhancers	HMEC	breast
45	chr6:72178200-72179800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr6:72178400-72178600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:72178400-72178800	Enhancers	Brain Anterior Caudate	brain
48	chr6:72178400-72178800	Active TSS	HSMM	muscle
49	chr6:72178400-72179000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:72178400-72179200	Active TSS	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links