Variant report

Variant	esv2759170
Chromosome Location	chr3:116085678-116121948
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:3)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:116116203..116118718-chr3:116119637..116121957,2	K562	blood:
2	chr3:115858694..115859203-chr3:116105156..116105712,2	MCF-7	breast:
3	chr3:116116203..116118718-chr3:116119637..116121957,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GAP43-4	chr3:116086990-116087118	ENSG00000240922.1
2	lnc-ZBTB20-6	chr3:116094581-116094795	uc_122_-
3	lnc-GAP43-4	chr3:116088678-116088932	NR_109998
4	lnc-GAP43-15	chr3:116094581-116094795	uc_122_+
5	lnc-GAP43-4	chr3:116088678-116088937	ENSG00000240922.1
6	lnc-GAP43-4	chr3:116086789-116086882	NR_109998
7	lnc-GAP43-4	chr3:116086990-116087118	NR_109998
8	lnc-GAP43-4	chr3:116086789-116086882	ENSG00000240922.1

No data

Extended variants
information (count: 1204 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1204 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs118114821	chr3:116086813-116086814	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
2	rs541780372	chr3:116086855-116086856	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs149529520	chr3:116086883-116086884	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs188494399	chr3:116086923-116086924	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs533612219	chr3:116086924-116086925	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs545261865	chr3:116086926-116086927	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs563814755	chr3:116086990-116086991	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs181258308	chr3:116086991-116086992	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs185744601	chr3:116087029-116087030	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs1054632	chr3:116087069-116087070	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs139947155	chr3:116087104-116087105	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs201150548	chr3:116087109-116087110	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
13	rs547319569	chr3:116087110-116087111	Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
14	rs4831095	chr3:116087170-116087171	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs539627368	chr3:116087181-116087182	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs59119132	chr3:116087245-116087246	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs200613553	chr3:116087253-116087254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569751282	chr3:116087254-116087255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190503871	chr3:116087267-116087268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571470382	chr3:116087395-116087396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536711274	chr3:116087405-116087406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149246738	chr3:116087414-116087415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112276098	chr3:116087440-116087441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541022893	chr3:116087441-116087442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527587860	chr3:116087469-116087470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs16824815	chr3:116087492-116087493	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs370730419	chr3:116087505-116087506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374359902	chr3:116087513-116087514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537887763	chr3:116087566-116087567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs578240049	chr3:116087574-116087575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs80000130	chr3:116087579-116087580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563702662	chr3:116087750-116087751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531050277	chr3:116087839-116087840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542791719	chr3:116087882-116087883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561027911	chr3:116087911-116087912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528514117	chr3:116087935-116087936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183885268	chr3:116087936-116087937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372348780	chr3:116087942-116087943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114073322	chr3:116087951-116087952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199556276	chr3:116087983-116087984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77891777	chr3:116087992-116087993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567649693	chr3:116087998-116087999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187148625	chr3:116088019-116088020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142550923	chr3:116088047-116088048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs5852008	chr3:116088070-116088071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537228830	chr3:116088082-116088083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13323946	chr3:116088116-116088117	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs147728767	chr3:116088121-116088122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140913711	chr3:116088128-116088129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs724115	chr3:116088165-116088166	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Ovarian cancer	22174824	CNVD
Myelofibrosis	22110671	CNVD
Characteristic facial feature	22180640	CNVD
hypoplastic male genitals	22180640	CNVD
postnatal overgrowth	22180640	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:116086800-116087200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr3:116087000-116087200	Enhancers	Brain Anterior Caudate	brain
3	chr3:116087200-116088000	Weak transcription	Brain Anterior Caudate	brain
4	chr3:116087400-116088800	Enhancers	Colon Smooth Muscle	Colon
5	chr3:116087800-116088400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:116088000-116088200	Enhancers	Brain Anterior Caudate	brain
7	chr3:116088000-116088400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:116088200-116088800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr3:116088200-116089000	Weak transcription	Brain Anterior Caudate	brain
10	chr3:116088600-116089600	Enhancers	Brain Hippocampus Middle	brain
11	chr3:116088800-116093400	Weak transcription	Colon Smooth Muscle	Colon
12	chr3:116089000-116089600	Enhancers	Brain Anterior Caudate	brain
13	chr3:116089400-116089600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:116089600-116093400	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:116089600-116093600	Weak transcription	Brain Anterior Caudate	brain
16	chr3:116093200-116095800	Enhancers	Fetal Lung	lung
17	chr3:116093400-116094000	Enhancers	Brain Hippocampus Middle	brain
18	chr3:116093400-116094000	Enhancers	Colon Smooth Muscle	Colon
19	chr3:116093600-116093800	Enhancers	Fetal Kidney	kidney
20	chr3:116093600-116094000	Enhancers	Brain Anterior Caudate	brain
21	chr3:116093600-116094000	Enhancers	Ovary	ovary
22	chr3:116093600-116094000	Enhancers	Rectal Smooth Muscle	rectum
23	chr3:116093600-116095000	Enhancers	Brain Substantia Nigra	brain
24	chr3:116094000-116095000	Weak transcription	Colon Smooth Muscle	Colon
25	chr3:116094000-116095200	Weak transcription	Brain Hippocampus Middle	brain
26	chr3:116095000-116095400	Enhancers	Colon Smooth Muscle	Colon
27	chr3:116095200-116095400	Enhancers	Brain Hippocampus Middle	brain
28	chr3:116095400-116096200	Weak transcription	Brain Hippocampus Middle	brain
29	chr3:116096400-116108000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:116102000-116102800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr3:116102200-116104200	Enhancers	Brain Substantia Nigra	brain
32	chr3:116102600-116103000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr3:116102600-116103000	Enhancers	Fetal Lung	lung
34	chr3:116102600-116103200	Enhancers	Rectal Smooth Muscle	rectum
35	chr3:116102600-116103600	Enhancers	Brain Hippocampus Middle	brain
36	chr3:116102600-116103800	Enhancers	Brain Germinal Matrix	brain
37	chr3:116102600-116104400	Enhancers	Brain Anterior Caudate	brain
38	chr3:116102800-116103000	Enhancers	Fetal Brain Male	brain
39	chr3:116102800-116103200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr3:116102800-116103800	Enhancers	Brain Angular Gyrus	brain
41	chr3:116102800-116103800	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr3:116102800-116104200	Enhancers	Colon Smooth Muscle	Colon
43	chr3:116103000-116103400	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr3:116103000-116107400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr3:116103000-116107400	Weak transcription	Fetal Brain Male	brain
46	chr3:116103000-116142000	Weak transcription	Fetal Lung	lung
47	chr3:116103200-116103600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr3:116103400-116103800	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr3:116103600-116103800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr3:116103600-116107200	Weak transcription	Brain Hippocampus Middle	brain

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