Variant report

Variant	nsv1002714
Chromosome Location	chr2:188934297-189025084
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:189019149..189021325-chr2:189022455..189024861,2	K562	blood:
2	chr2:188994299..188994907-chr2:189145390..189145988,2	MCF-7	breast:
3	chr2:188964742..188967456-chr2:188978062..188980156,2	K562	blood:
4	chr2:189019149..189021325-chr2:189022455..189024861,2	K562	blood:
5	chr2:188964742..188967456-chr2:188978062..188980156,2	K562	blood:
6	chr2:188994483..188997942-chr2:189003518..189006979,3	K562	blood:
7	chr2:188952317..188954845-chr2:189154060..189156611,2	K562	blood:
8	chr2:72573103..72574031-chr2:188995710..188996539,2	MCF-7	breast:
9	chr2:188710121..188711814-chr2:188979120..188982025,2	MCF-7	breast:
10	chr17:57862318..57863958-chr2:189013944..189015977,2	MCF-7	breast:
11	chr2:188994514..188995025-chr2:189228372..189228945,2	MCF-7	breast:
12	chr2:188994483..188997942-chr2:189003518..189006979,3	K562	blood:
13	chr11:9480847..9482961-chr2:188994843..188997685,2	MCF-7	breast:
14	chr2:188959333..188961890-chr2:188963831..188966080,2	K562	blood:
15	chr2:189016643..189020649-chr2:189022455..189025667,3	K562	blood:
16	chr2:189016643..189020649-chr2:189022455..189025667,3	K562	blood:
17	chr2:188959333..188961890-chr2:188963831..188966080,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268403	chromatin interactions
ENSG00000166478	chromatin interactions
ENSG00000144366	chromatin interactions

Extended variants
information (count: 2975 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:2975 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72907949	chr2:188935457-188935458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs62180775	chr2:188935464-188935465	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs574638606	chr2:188935494-188935495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140200438	chr2:188935516-188935517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570629958	chr2:188935517-188935518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386653613	chr2:188935526-188935527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13399384	chr2:188935529-188935530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs188183528	chr2:188935574-188935575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575487418	chr2:188935594-188935595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543780609	chr2:188935613-188935614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565182472	chr2:188935629-188935630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532462104	chr2:188935638-188935639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150013100	chr2:188935670-188935671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559441046	chr2:188935672-188935673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530195290	chr2:188935718-188935719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574952821	chr2:188935765-188935766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530732550	chr2:188938810-188938811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs566964743	chr2:188938859-188938860	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs534328561	chr2:188938868-188938869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs72907958	chr2:188938886-188938887	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs567799638	chr2:188938900-188938901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs182146426	chr2:188938997-188938998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs375351446	chr2:188939010-188939011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs566841045	chr2:188939016-188939017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs186346776	chr2:188939019-188939020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs34017661	chr2:188939020-188939021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs190367507	chr2:188939086-188939087	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs115274232	chr2:188939129-188939130	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs1371525	chr2:188939140-188939141	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs542668727	chr2:188939151-188939152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs146028718	chr2:188939184-188939185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs556787451	chr2:188939207-188939208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs78740356	chr2:188939263-188939264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs138785354	chr2:188939265-188939266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs542687052	chr2:188939266-188939267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs543270238	chr2:188939320-188939321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs552408097	chr2:188939338-188939339	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs565153098	chr2:188939382-188939383	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs532492697	chr2:188939408-188939409	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149325685	chr2:188939451-188939452	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566830129	chr2:188939466-188939467	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527688690	chr2:188939476-188939477	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1371524	chr2:188939477-188939478	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs567669085	chr2:188939499-188939500	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369462172	chr2:188939510-188939511	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539866438	chr2:188939514-188939515	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371679320	chr2:188939526-188939527	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75420655	chr2:188939547-188939548	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115384218	chr2:188939556-188939557	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571604656	chr2:188939567-188939568	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Tetralogy of Fallot	22912587	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188935400-188935800	Weak transcription	Pancreas	Pancrea
2	chr2:188938800-188942400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:188939400-188939600	ZNF genes & repeats	Gastric	stomach
4	chr2:188939400-188939800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:188939400-188939800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:188939400-188939800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr2:188939400-188939800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:188939600-188940600	Weak transcription	Gastric	stomach
9	chr2:188939800-188942400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:188939800-188944000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:188940400-188941000	Enhancers	GM12878-XiMat	blood
12	chr2:188941000-188941400	Flanking Active TSS	GM12878-XiMat	blood
13	chr2:188941400-188943000	Enhancers	GM12878-XiMat	blood
14	chr2:188942400-188942800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:188942400-188944600	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:188942800-188943600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:188942800-188943600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr2:188943000-188943400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr2:188943000-188943400	Flanking Active TSS	GM12878-XiMat	blood
20	chr2:188943200-188943600	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr2:188943200-188944400	Enhancers	HSMM	muscle
22	chr2:188943200-188944400	Enhancers	NHDF-Ad	bronchial
23	chr2:188943400-188944400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:188943400-188944400	Enhancers	GM12878-XiMat	blood
25	chr2:188943400-188944400	Enhancers	HSMMtube	muscle
26	chr2:188943400-188944600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:188943400-188944600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:188943400-188944600	Enhancers	Osteobl	bone
29	chr2:188943600-188944400	Enhancers	NH-A	brain
30	chr2:188943600-188944400	Enhancers	NHLF	lung
31	chr2:188943600-188944600	Enhancers	HMEC	breast
32	chr2:188943800-188944400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:188943800-188944400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:188943800-188944400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:188944000-188944200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:188944000-188944400	Enhancers	NHEK	skin
37	chr2:188944400-188947400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:188944600-188988000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr2:188947400-188947800	Enhancers	Brain Hippocampus Middle	brain
40	chr2:188947400-188948400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:188947800-188949800	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:188948400-188950200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:188949800-188950400	Enhancers	Brain Hippocampus Middle	brain
44	chr2:188950000-188950400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr2:188950200-188950400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:188950200-188950600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:188950200-188950800	Active TSS	Brain Anterior Caudate	brain
48	chr2:188950400-188950600	Active TSS	Brain Angular Gyrus	brain
49	chr2:188950400-188950800	Enhancers	H9 Cell Line	embryonic stem cell
50	chr2:188950400-188950800	Active TSS	Brain Hippocampus Middle	brain

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