Variant report

Variant	nsv1004342
Chromosome Location	chr1:192370887-192390633
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	chr1:192370922..192372618-chr1:192374409..192375984,2	K562	blood:
2	chr1:192372329..192375655-chr1:192377870..192380869,3	K562	blood:
3	chr1:192370922..192372618-chr1:192374409..192375984,2	K562	blood:
4	chr1:192364251..192366273-chr1:192371276..192373537,2	K562	blood:
5	chr1:192368188..192369973-chr1:192371853..192374450,2	K562	blood:
6	chr1:192372329..192375655-chr1:192377870..192380869,3	K562	blood:
7	chr1:192371824..192373829-chr1:192377801..192380040,2	K562	blood:
8	chr1:192371824..192373829-chr1:192377801..192380040,2	K562	blood:

No data

Extended variants
information (count: 251 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191166854	chr1:192370887-192370888	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs539619155	chr1:192370915-192370916	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs556115313	chr1:192370923-192370924	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs183324474	chr1:192370930-192370931	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs528108329	chr1:192371008-192371009	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs546672037	chr1:192371099-192371100	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs535400810	chr1:192371215-192371216	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs79529250	chr1:192371266-192371267	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs145713794	chr1:192371272-192371273	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs139264504	chr1:192371295-192371296	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs368759393	chr1:192371345-192371346	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs540686387	chr1:192371391-192371392	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs75780293	chr1:192371428-192371429	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs577346451	chr1:192371433-192371434	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs546361390	chr1:192371529-192371530	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs562956227	chr1:192371598-192371599	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs535596981	chr1:192371756-192371757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532001442	chr1:192371763-192371764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187919856	chr1:192371850-192371851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562019363	chr1:192371927-192371928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193183352	chr1:192371939-192371940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77772579	chr1:192371977-192371978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185162808	chr1:192372009-192372010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149099406	chr1:192372185-192372186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs118089875	chr1:192372265-192372266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77718846	chr1:192372266-192372267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569147722	chr1:192372282-192372283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189622711	chr1:192372338-192372339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12404163	chr1:192372355-192372356	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs555253449	chr1:192372408-192372409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558121077	chr1:192372409-192372410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192553786	chr1:192372426-192372427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557364982	chr1:192372434-192372435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577283457	chr1:192372435-192372436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577302446	chr1:192372439-192372440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543174258	chr1:192372480-192372481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563049739	chr1:192372507-192372508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576568318	chr1:192372508-192372509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143209993	chr1:192372553-192372554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184739647	chr1:192372599-192372600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528022294	chr1:192372657-192372658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77925028	chr1:192372664-192372665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7545533	chr1:192372674-192372675	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs75142392	chr1:192372690-192372691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs57066034	chr1:192372741-192372742	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs148243356	chr1:192372748-192372749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542371983	chr1:192372750-192372751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550009895	chr1:192372760-192372761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377365650	chr1:192372872-192372873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188380893	chr1:192372887-192372888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192368800-192371200	Weak transcription	Fetal Intestine Large	intestine
2	chr1:192370200-192371800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:192370600-192371600	Enhancers	Fetal Heart	heart
4	chr1:192370600-192372000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr1:192370800-192371000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:192370800-192371000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:192370800-192371000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:192370800-192371000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr1:192370800-192371200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:192370800-192371400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:192370800-192371400	Enhancers	HMEC	breast
12	chr1:192370800-192371400	Enhancers	NH-A	brain
13	chr1:192370800-192371400	Flanking Active TSS	Osteobl	bone
14	chr1:192370800-192371600	Enhancers	Dnd41	blood
15	chr1:192370800-192371600	Enhancers	HSMM	muscle
16	chr1:192370800-192372200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:192370800-192372400	Enhancers	Duodenum Mucosa	Duodenum
18	chr1:192370800-192372400	Enhancers	NHEK	skin
19	chr1:192370800-192373400	Enhancers	Fetal Intestine Small	intestine
20	chr1:192371000-192371200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:192371000-192371200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:192371000-192371400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:192371000-192371400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:192371000-192371400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:192371000-192371400	Enhancers	Adipose Nuclei	Adipose
26	chr1:192371000-192371400	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr1:192371000-192371400	Enhancers	Stomach Smooth Muscle	stomach
28	chr1:192371200-192371400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:192371200-192371400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr1:192371200-192371400	Enhancers	Colon Smooth Muscle	Colon
31	chr1:192371200-192371600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:192371200-192371600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr1:192371200-192373000	Enhancers	Fetal Intestine Large	intestine
34	chr1:192371400-192371600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:192371400-192371600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:192371400-192371600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr1:192371400-192371800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:192371400-192372000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:192371400-192375600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:192371600-192372000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr1:192371600-192372200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:192371800-192372000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:192371800-192372200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:192371800-192372200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:192372000-192372600	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr1:192372200-192372600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:192373400-192376400	Weak transcription	Fetal Intestine Small	intestine
48	chr1:192375600-192376800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:192376200-192376800	Enhancers	Fetal Lung	lung
50	chr1:192376400-192376600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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