Variant report

Variant	esv3461526
Chromosome Location	chr3:17719974-17725110
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:17709687..17712550-chr3:17720068..17722568,2	K562	blood:
2	chr3:17712945..17715676-chr3:17721430..17724365,2	K562	blood:
3	chr3:17710199..17712453-chr3:17724629..17727105,2	MCF-7	breast:
4	chr3:17712967..17714833-chr3:17718759..17720430,2	K562	blood:
5	chr3:17703859..17706608-chr3:17724124..17726176,2	K562	blood:
6	chr3:17721696..17724606-chr3:17732689..17735501,2	K562	blood:

Variant related genes	Relation type
ENSG00000271841	chromatin interactions
ENSG00000131374	chromatin interactions

Extended variants
information (count: 182 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570708143	chr3:17719978-17719979	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs539625265	chr3:17719992-17719993	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556145876	chr3:17720020-17720021	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs551107834	chr3:17720044-17720045	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs576304291	chr3:17720052-17720053	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs192758355	chr3:17720084-17720085	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs4909009	chr3:17720104-17720105	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs13434111	chr3:17720108-17720109	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs551223487	chr3:17720157-17720158	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs369845688	chr3:17720159-17720160	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs76218630	chr3:17720174-17720175	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs535580521	chr3:17720175-17720176	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs149716786	chr3:17720206-17720207	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs540680401	chr3:17720219-17720220	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs547534478	chr3:17720242-17720243	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs148069523	chr3:17720243-17720244	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs563836058	chr3:17720384-17720385	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs182143811	chr3:17720388-17720389	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs546363259	chr3:17720428-17720429	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs563067009	chr3:17720493-17720494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532003671	chr3:17720496-17720497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187928097	chr3:17720522-17720523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570966557	chr3:17720552-17720553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556500778	chr3:17720571-17720572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34135899	chr3:17720572-17720573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113290654	chr3:17720573-17720574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs397781823	chr3:17720584-17720585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559245293	chr3:17720585-17720586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568423426	chr3:17720604-17720605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527788782	chr3:17720642-17720643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553555574	chr3:17720756-17720757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541279218	chr3:17720800-17720801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11924560	chr3:17720804-17720805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs561128614	chr3:17720818-17720819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570946750	chr3:17720821-17720822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530074109	chr3:17720827-17720828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556298627	chr3:17720856-17720857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550019915	chr3:17720891-17720892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562133377	chr3:17720896-17720897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539711907	chr3:17720907-17720908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145540945	chr3:17720916-17720917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564747307	chr3:17721020-17721021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535703138	chr3:17721107-17721108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553272352	chr3:17721114-17721115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554948377	chr3:17721146-17721147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571757639	chr3:17721162-17721163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540616030	chr3:17721266-17721267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148879000	chr3:17721283-17721284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577645623	chr3:17721294-17721295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10510477	chr3:17721297-17721298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

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
Breast cancer	21364760	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17694400-17721800	Weak transcription	A549	lung
2	chr3:17707000-17734800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr3:17709200-17723200	Weak transcription	Aorta	Aorta
4	chr3:17709200-17732000	Weak transcription	Psoas Muscle	Psoas
5	chr3:17709600-17725800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr3:17711400-17755000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr3:17712600-17732600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr3:17713400-17723200	Weak transcription	Primary B cells from cord blood	blood
9	chr3:17714400-17725200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr3:17714600-17724800	Weak transcription	Brain Hippocampus Middle	brain
11	chr3:17719000-17720600	Enhancers	Dnd41	blood
12	chr3:17719600-17720000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:17719600-17720000	Enhancers	NHEK	skin
14	chr3:17719600-17720200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:17719600-17720200	Enhancers	NHDF-Ad	bronchial
16	chr3:17719600-17720400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:17719600-17720600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr3:17719600-17720800	Enhancers	Osteobl	bone
19	chr3:17719800-17720000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:17719800-17720000	Enhancers	Brain Substantia Nigra	brain
21	chr3:17719800-17720000	Enhancers	HUVEC	blood vessel
22	chr3:17719800-17720000	Enhancers	NH-A	brain
23	chr3:17719800-17720200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr3:17719800-17720200	Enhancers	HMEC	breast
25	chr3:17719800-17720200	Enhancers	HSMM	muscle
26	chr3:17719800-17720600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:17719800-17720800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:17719800-17723400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:17720000-17722200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:17720000-17727600	Weak transcription	Brain Substantia Nigra	brain
31	chr3:17720000-17747400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:17720200-17734200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr3:17720600-17722800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:17720600-17723600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr3:17720600-17734400	Weak transcription	Dnd41	blood
36	chr3:17720800-17723800	Weak transcription	Osteobl	bone
37	chr3:17721800-17723400	Enhancers	A549	lung
38	chr3:17722200-17723000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:17722400-17722600	Enhancers	Brain Anterior Caudate	brain
40	chr3:17722400-17723600	Enhancers	Colon Smooth Muscle	Colon
41	chr3:17722400-17723600	Enhancers	Ovary	ovary
42	chr3:17722600-17725600	Weak transcription	Brain Anterior Caudate	brain
43	chr3:17722800-17723400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:17723200-17723400	Enhancers	Fetal Stomach	stomach
45	chr3:17723200-17723400	Enhancers	Gastric	stomach
46	chr3:17723200-17723400	Enhancers	Lung	lung
47	chr3:17723200-17723400	Enhancers	Small Intestine	intestine
48	chr3:17723200-17723600	Strong transcription	Primary B cells from cord blood	blood
49	chr3:17723200-17723600	ZNF genes & repeats	Aorta	Aorta
50	chr3:17723200-17723600	Enhancers	Left Ventricle	heart

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