Variant report

Variant	nsv917260
Chromosome Location	chr3:286326-312115
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:4)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:297411..299702-chr3:300779..302869,2	K562	blood:
2	chr3:297411..299702-chr3:300779..302869,2	K562	blood:
3	chr3:291331..293955-chr3:294697..297452,2	MCF-7	breast:
4	chr3:291331..293955-chr3:294697..297452,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNTN6-7	chr3:286296-286375	NONHSAT087560
2	lnc-CNTN6-7	chr3:286296-286375	NONHSAT087561
3	lnc-CNTN6-7	chr3:288251-290282	NONHSAT087561
4	lnc-CNTN6-7	chr3:288251-288539	NONHSAT087560

No data

Extended variants
information (count: 1369 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1369 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562306368	chr3:286326-286327	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs577557914	chr3:286330-286331	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs185127637	chr3:286339-286340	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs544725676	chr3:286345-286346	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs75876836	chr3:286348-286349	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs543636728	chr3:286393-286394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565011229	chr3:286421-286422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552419909	chr3:286440-286441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150463544	chr3:286475-286476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540946354	chr3:286479-286480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546755855	chr3:286481-286482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530527973	chr3:286490-286491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189959048	chr3:286500-286501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182185658	chr3:286502-286503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187114974	chr3:286521-286522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569488453	chr3:286542-286543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539584700	chr3:286544-286545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533355918	chr3:286545-286546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372070468	chr3:286552-286553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191173788	chr3:286585-286586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534312746	chr3:286589-286590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555557069	chr3:286590-286591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567480243	chr3:286622-286623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73815956	chr3:286623-286624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs556421273	chr3:286656-286657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549493853	chr3:286684-286685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577888664	chr3:286705-286706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544975115	chr3:286711-286712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370688231	chr3:286742-286743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs180740952	chr3:286834-286835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112409858	chr3:286862-286863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74559592	chr3:286904-286905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561905603	chr3:286962-286963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185323441	chr3:286963-286964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544524913	chr3:286998-286999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149174983	chr3:287049-287050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533487722	chr3:287051-287052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190076920	chr3:287099-287100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143293797	chr3:287133-287134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182646296	chr3:287154-287155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs631706	chr3:287196-287197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs567808665	chr3:287216-287217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538023848	chr3:287217-287218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556119254	chr3:287222-287223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571816960	chr3:287261-287262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571484646	chr3:287268-287269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9819335	chr3:287275-287276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs3864044	chr3:287300-287301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs188443454	chr3:287312-287313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138786250	chr3:287313-287314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Cancer	20164920	CNVD
Lung cancer	16618734	CNVD
Autism	18349135	CNVD
Breast cancer	20409316	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Intellectual disability	22045946	CNVD
Squamous cell cancer	19607727	CNVD
Gastric adenocarcinoma	19115996	CNVD
sporadic birth defects	19047251	CNVD
Mental retardation	17124404	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Sudden cardiac death	19188705	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	18923191	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Autism	22543975	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Tetralogy of Fallot	22912587	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	20685689	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:283200-290800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:284400-286600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:285000-286600	Enhancers	Brain Germinal Matrix	brain
4	chr3:285200-290600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:285400-289200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:285400-290800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:285400-307400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:285800-289200	Weak transcription	Fetal Brain Male	brain
9	chr3:286000-286600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:286000-287400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:286000-289400	Weak transcription	Fetal Lung	lung
12	chr3:286200-288800	Weak transcription	Fetal Brain Female	brain
13	chr3:286200-288800	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:286200-315400	Weak transcription	Ovary	ovary
15	chr3:286600-289400	Weak transcription	Brain Germinal Matrix	brain
16	chr3:286600-290800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:287400-287600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:288800-289400	Enhancers	Fetal Muscle Leg	muscle
19	chr3:288800-291400	Enhancers	Fetal Brain Female	brain
20	chr3:289200-289800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr3:289200-289800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:289200-291200	Enhancers	Fetal Brain Male	brain
23	chr3:289400-290800	Weak transcription	Fetal Muscle Leg	muscle
24	chr3:289400-291400	Enhancers	Fetal Lung	lung
25	chr3:289400-291800	Enhancers	Brain Germinal Matrix	brain
26	chr3:289600-291600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:289800-296400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:290400-291400	Enhancers	Fetal Kidney	kidney
29	chr3:290600-291400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr3:290600-291600	Enhancers	HepG2	liver
31	chr3:290600-291800	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr3:290600-292800	Enhancers	Primary B cells from peripheral blood	blood
33	chr3:290800-291000	Enhancers	Fetal Muscle Leg	muscle
34	chr3:290800-291200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr3:290800-291200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:290800-291400	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr3:290800-291800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr3:290800-292400	Enhancers	Primary B cells from cord blood	blood
39	chr3:291000-291600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr3:291200-298200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr3:291400-292600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr3:291400-299600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr3:291800-296800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr3:291800-305200	Weak transcription	Brain Germinal Matrix	brain
45	chr3:292600-292800	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr3:296200-296400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr3:296400-296600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr3:296400-297200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr3:296400-297200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr3:296800-297000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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