Variant report

Variant	esv2760738
Chromosome Location	chr3:135943988-135957333
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:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:135914895..135917760-chr3:135953587..135955253,2	MCF-7	breast:
2	chr3:135914453..135916703-chr3:135953216..135954828,2	K562	blood:
3	chr3:135955194..135957382-chr3:135967889..135969974,2	MCF-7	breast:
4	chr3:135954969..135958105-chr3:135968052..135971178,3	MCF-7	breast:
5	chr3:135953105..135954994-chr3:135955237..135956991,2	MCF-7	breast:
6	chr3:135914260..135917175-chr3:135955428..135961207,5	MCF-7	breast:
7	chr3:135929618..135932203-chr3:135951944..135954084,2	K562	blood:
8	chr3:135953105..135954994-chr3:135955237..135956991,2	MCF-7	breast:
9	chr3:135954886..135956782-chr3:136102988..136105563,2	MCF-7	breast:
10	chr3:135956487..135958246-chr3:135959617..135962122,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCCB-1	chr3:135944465-135944567	NONHSAT092275
2	lnc-PCCB-1	chr3:135955807-135955888	NONHSAT092275

No data

Variant related genes	Relation type
ENSG00000174579	chromatin interactions
ENSG00000114054	chromatin interactions

Extended variants
information (count: 222 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2459412	chr3:135944500-135944501	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs529351944	chr3:135944501-135944502	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs188418509	chr3:135944509-135944510	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs562928097	chr3:135944520-135944521	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs572728933	chr3:135951261-135951262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542545332	chr3:135951281-135951282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11347029	chr3:135951374-135951375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79977319	chr3:135951386-135951387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556042603	chr3:135951398-135951399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs632251	chr3:135951491-135951492	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs544354700	chr3:135951547-135951548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112714810	chr3:135951576-135951577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555050351	chr3:135951582-135951583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147781408	chr3:135951596-135951597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187301261	chr3:135951599-135951600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141016116	chr3:135951621-135951622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529259260	chr3:135951637-135951638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144963155	chr3:135951668-135951669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371049436	chr3:135951684-135951685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs57965788	chr3:135951727-135951728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138327558	chr3:135951731-135951732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs59384830	chr3:135951757-135951758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs72340865	chr3:135951758-135951759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1296738	chr3:135951760-135951761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568314664	chr3:135951771-135951772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114673243	chr3:135952252-135952253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544419403	chr3:135952258-135952259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557956207	chr3:135952278-135952279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs578097444	chr3:135952304-135952305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs646089	chr3:135952321-135952322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140563024	chr3:135952332-135952333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189173441	chr3:135952361-135952362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543002795	chr3:135952373-135952374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561978190	chr3:135952441-135952442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530796157	chr3:135952451-135952452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111302907	chr3:135952514-135952515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371218181	chr3:135952541-135952542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374070437	chr3:135952583-135952584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116096445	chr3:135952592-135952593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9826454	chr3:135953220-135953221	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs533155703	chr3:135953248-135953249	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs185606817	chr3:135953269-135953270	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs560210400	chr3:135953280-135953281	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs190765666	chr3:135953298-135953299	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs13059045	chr3:135953306-135953307	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs35239795	chr3:135953372-135953373	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs71935912	chr3:135953373-135953374	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs397805551	chr3:135953376-135953377	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs548650925	chr3:135953409-135953410	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs661722	chr3:135953465-135953466	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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	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
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18511947	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135951200-135951800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr3:135952200-135952600	Enhancers	GM12878-XiMat	blood
3	chr3:135953800-135955400	Enhancers	Liver	Liver
4	chr3:135954400-135955400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:135954600-135954800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr3:135954600-135954800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:135954600-135955000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr3:135954600-135955000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:135954600-135955000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:135954600-135955200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr3:135954600-135955200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:135954600-135955400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr3:135954600-135956000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:135954600-135958400	Enhancers	HepG2	liver
15	chr3:135954800-135955000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr3:135954800-135955800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:135955000-135955400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr3:135955000-135955600	Enhancers	H1 Cell Line	embryonic stem cell
19	chr3:135955000-135956600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr3:135955000-135956600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr3:135955200-135956400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr3:135955400-135955800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr3:135955400-135956000	Weak transcription	Liver	Liver
24	chr3:135955800-135956600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr3:135955800-135957000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:135955800-135958000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr3:135956000-135956800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr3:135956000-135957800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr3:135956000-135958200	Enhancers	Liver	Liver
30	chr3:135956400-135956600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
31	chr3:135956400-135956600	Enhancers	Colon Smooth Muscle	Colon
32	chr3:135956400-135957200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:135956400-135957400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr3:135956600-135956800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
35	chr3:135956600-135957000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr3:135956600-135957400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
37	chr3:135956600-135957400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr3:135956600-135957400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
39	chr3:135956600-135957400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
40	chr3:135956600-135957600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr3:135956800-135957400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr3:135956800-135957400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
43	chr3:135957200-135957400	Enhancers	Colon Smooth Muscle	Colon
44	chr3:135957200-135958000	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links