Variant report

Variant	esv3334948
Chromosome Location	chr3:20102448-20105046
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:19987687..19990266-chr3:20104517..20106901,2	K562	blood:
2	chr3:20096569..20098445-chr3:20104189..20106827,2	MCF-7	breast:
3	chr3:20102932..20104698-chr3:20105187..20107405,2	K562	blood:
4	chr3:20081053..20084896-chr3:20098793..20102867,5	K562	blood:

Variant related genes	Relation type
ENSG00000163576	chromatin interactions
ENSG00000114166	chromatin interactions
ENSG00000144566	chromatin interactions

Extended variants
information (count: 145 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570115302	chr3:20102458-20102459	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs565358861	chr3:20102471-20102472	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs566062804	chr3:20102514-20102515	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs191959802	chr3:20102544-20102545	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs150763956	chr3:20102558-20102559	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs547919870	chr3:20102567-20102568	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs565886602	chr3:20102585-20102586	Weak transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs373605608	chr3:20102606-20102607	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs78622065	chr3:20102642-20102643	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs548589485	chr3:20102667-20102668	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs139100340	chr3:20102692-20102693	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs537224408	chr3:20102718-20102719	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs558697060	chr3:20102729-20102730	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs78574503	chr3:20102754-20102755	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs185342577	chr3:20102761-20102762	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs568647642	chr3:20102783-20102784	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs376843877	chr3:20102825-20102826	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs145660242	chr3:20102840-20102841	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs112703339	chr3:20102846-20102847	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs537202886	chr3:20102886-20102887	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs149479405	chr3:20103026-20103027	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs115526092	chr3:20103031-20103032	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs143885950	chr3:20103060-20103061	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs543762676	chr3:20103076-20103077	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs565031096	chr3:20103123-20103124	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs182239640	chr3:20103124-20103125	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs3960789	chr3:20103199-20103200	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs114445546	chr3:20103210-20103211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530024150	chr3:20103211-20103212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187574594	chr3:20103218-20103219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13082384	chr3:20103235-20103236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13060230	chr3:20103236-20103237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542014418	chr3:20103242-20103243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552220030	chr3:20103243-20103244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569970104	chr3:20103275-20103276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531219148	chr3:20103283-20103284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531073974	chr3:20103290-20103291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373244060	chr3:20103325-20103326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377468281	chr3:20103326-20103327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs71961220	chr3:20103327-20103328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs71634894	chr3:20103330-20103331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs367969548	chr3:20103359-20103360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368389160	chr3:20103405-20103406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374571237	chr3:20103407-20103408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370374562	chr3:20103410-20103411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374082896	chr3:20103411-20103412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552462665	chr3:20103415-20103416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188022955	chr3:20103419-20103420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534937504	chr3:20103430-20103431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201721343	chr3:20103431-20103432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Prostate cancer	19363497	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:247 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20086200-20102800	Weak transcription	Fetal Intestine Small	intestine
2	chr3:20096600-20106400	Weak transcription	Fetal Intestine Large	intestine
3	chr3:20096800-20102600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr3:20097200-20104600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:20097200-20106400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:20099000-20122600	Weak transcription	Aorta	Aorta
7	chr3:20099200-20102600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr3:20099200-20106000	Weak transcription	Right Ventricle	heart
9	chr3:20099400-20102600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr3:20099400-20102600	Weak transcription	HSMM	muscle
11	chr3:20099400-20102600	Weak transcription	NHLF	lung
12	chr3:20099400-20105400	Weak transcription	Brain Angular Gyrus	brain
13	chr3:20099400-20105800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr3:20099400-20106400	Weak transcription	Ovary	ovary
15	chr3:20099400-20106600	Weak transcription	Pancreas	Pancrea
16	chr3:20099400-20108600	Weak transcription	Fetal Stomach	stomach
17	chr3:20099400-20112600	Weak transcription	HSMMtube	muscle
18	chr3:20099400-20112800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr3:20099400-20122600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr3:20099400-20122800	Weak transcription	Lung	lung
21	chr3:20099600-20102600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr3:20099600-20102600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:20099600-20102600	Weak transcription	Colon Smooth Muscle	Colon
24	chr3:20099600-20102600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr3:20099600-20104200	Weak transcription	Brain Substantia Nigra	brain
26	chr3:20099600-20106000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr3:20099800-20102600	Weak transcription	Right Atrium	heart
28	chr3:20099800-20104000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:20099800-20104000	Weak transcription	Left Ventricle	heart
30	chr3:20099800-20106600	Weak transcription	Spleen	Spleen
31	chr3:20100000-20109200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr3:20100200-20102600	Weak transcription	Brain Hippocampus Middle	brain
33	chr3:20100200-20102800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:20100400-20102600	Weak transcription	Brain Anterior Caudate	brain
35	chr3:20100400-20105200	Weak transcription	Thymus	Thymus
36	chr3:20100400-20105400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr3:20100800-20104600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr3:20101000-20102800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr3:20101400-20102600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr3:20101400-20102800	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr3:20101400-20103200	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr3:20101400-20103200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr3:20101600-20102600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr3:20101600-20103000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr3:20101600-20103200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:20101800-20102600	Enhancers	Primary B cells from cord blood	blood
47	chr3:20101800-20102600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr3:20101800-20102800	Enhancers	Psoas Muscle	Psoas
49	chr3:20102000-20102800	Enhancers	Primary B cells from peripheral blood	blood
50	chr3:20102200-20102600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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