Variant report

Variant	esv3425255
Chromosome Location	chr3:138852762-138856260
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:138847994..138851900-chr3:138852497..138855700,4	K562	blood:
2	chr3:138852328..138855231-chr3:139061265..139063191,2	MCF-7	breast:
3	chr3:138846515..138849332-chr3:138852696..138854714,2	K562	blood:
4	chr3:138852662..138855349-chr3:139061361..139062870,2	K562	blood:
5	chr3:138850568..138852847-chr3:138857740..138859655,2	K562	blood:
6	chr3:138852662..138855349-chr3:139061361..139063361,3	K562	blood:
7	chr3:138844509..138846014-chr3:138852462..138854010,2	K562	blood:
8	chr3:138853618..138855657-chr3:138955881..138958627,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175110	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188954026	chr3:138852771-138852772	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs534564238	chr3:138852779-138852780	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs191903254	chr3:138852789-138852790	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs2737737	chr3:138852794-138852795	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs568061092	chr3:138852798-138852799	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs140166897	chr3:138852869-138852870	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs184186513	chr3:138852891-138852892	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs538537647	chr3:138852996-138852997	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs558537884	chr3:138853028-138853029	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs143991636	chr3:138853094-138853095	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs201560297	chr3:138853133-138853134	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs547319435	chr3:138853197-138853198	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs116320131	chr3:138853256-138853257	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs140796521	chr3:138853263-138853264	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs562910096	chr3:138853279-138853280	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs556908717	chr3:138853315-138853316	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186624449	chr3:138853316-138853317	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs545600325	chr3:138853345-138853346	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs573298910	chr3:138853351-138853352	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs566844379	chr3:138853424-138853425	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs544898371	chr3:138853486-138853487	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs191470233	chr3:138853549-138853550	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs7623750	chr3:138853554-138853555	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs145910574	chr3:138853597-138853598	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs560792107	chr3:138853605-138853606	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs553590780	chr3:138853620-138853621	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs75200518	chr3:138853621-138853622	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs549467626	chr3:138853627-138853628	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs4364193	chr3:138853757-138853758	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs75475291	chr3:138853859-138853860	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs541895105	chr3:138854052-138854053	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs538681148	chr3:138854068-138854069	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs552089163	chr3:138854074-138854075	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs13089589	chr3:138854094-138854095	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs534364261	chr3:138854102-138854103	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs11719196	chr3:138854115-138854116	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs183815905	chr3:138854143-138854144	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs145398777	chr3:138854161-138854162	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs556429169	chr3:138854164-138854165	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs187042362	chr3:138854204-138854205	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs13067012	chr3:138854209-138854210	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs193040044	chr3:138854264-138854265	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs184527827	chr3:138854361-138854362	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs532592400	chr3:138854396-138854397	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs552400353	chr3:138854405-138854406	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs566203524	chr3:138854552-138854553	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs57272617	chr3:138854579-138854580	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs112550523	chr3:138854614-138854615	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs185254312	chr3:138854703-138854704	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs7626912	chr3:138854718-138854719	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
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
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138847400-138853000	Weak transcription	HMEC	breast
2	chr3:138849400-138854600	Weak transcription	Pancreas	Pancrea
3	chr3:138851200-138853200	Weak transcription	K562	blood
4	chr3:138851600-138853000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr3:138853000-138854200	Enhancers	HMEC	breast
6	chr3:138853000-138854800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr3:138853200-138855400	Enhancers	K562	blood
8	chr3:138854600-138855400	Enhancers	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links