Variant report

Variant	esv3435717
Chromosome Location	chr3:20185714-20186137
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:20186107..20188316-chr3:20191004..20193087,2	MCF-7	breast:
2	chr3:20185698..20188649-chr3:20188952..20191423,4	K562	blood:

Variant related genes	Relation type
ENSG00000114166	chromatin interactions

Extended variants
information (count: 34 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79070334	chr3:20185716-20185717	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs547613493	chr3:20185753-20185754	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368180203	chr3:20185765-20185766	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs377405463	chr3:20185766-20185767	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs368865284	chr3:20185768-20185769	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs78375065	chr3:20185776-20185777	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs202184633	chr3:20185777-20185778	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs55828442	chr3:20185778-20185779	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs75914618	chr3:20185781-20185782	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs79537479	chr3:20185793-20185794	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs75861167	chr3:20185797-20185798	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs6805673	chr3:20185804-20185805	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs541441969	chr3:20185861-20185862	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs548722894	chr3:20185869-20185870	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs567965605	chr3:20185871-20185872	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs371071253	chr3:20185879-20185880	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs140163286	chr3:20185880-20185881	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs372249982	chr3:20185920-20185921	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs554661538	chr3:20185926-20185927	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs78699704	chr3:20185936-20185937	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs571169228	chr3:20185998-20185999	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs534896804	chr3:20186002-20186003	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs575118037	chr3:20186032-20186033	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs553488525	chr3:20186043-20186044	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs189625717	chr3:20186051-20186052	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563544011	chr3:20186060-20186061	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs535912794	chr3:20186071-20186072	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs554257736	chr3:20186072-20186073	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs74951513	chr3:20186074-20186075	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs371518186	chr3:20186080-20186081	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs201653182	chr3:20186092-20186093	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs561666054	chr3:20186094-20186095	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs575611537	chr3:20186095-20186096	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs200001128	chr3:20186106-20186107	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	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
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20116400-20194800	Weak transcription	NHDF-Ad	bronchial
2	chr3:20141200-20222400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:20142600-20189400	Weak transcription	Fetal Brain Male	brain
4	chr3:20147600-20194200	Weak transcription	Dnd41	blood
5	chr3:20151000-20196800	Weak transcription	Stomach Mucosa	stomach
6	chr3:20159200-20201400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:20162800-20198200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:20164400-20204400	Weak transcription	Small Intestine	intestine
9	chr3:20164800-20211400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr3:20167800-20196600	Weak transcription	K562	blood
11	chr3:20167800-20226000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr3:20168800-20200800	Weak transcription	GM12878-XiMat	blood
13	chr3:20169600-20189600	Weak transcription	Fetal Intestine Large	intestine
14	chr3:20169600-20189600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr3:20169600-20198400	Weak transcription	Aorta	Aorta
16	chr3:20169600-20198400	Weak transcription	Pancreas	Pancrea
17	chr3:20169800-20201600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:20169800-20202000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr3:20174800-20190000	Weak transcription	Placenta	Placenta
20	chr3:20175800-20196800	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr3:20177800-20195200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr3:20178200-20185800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr3:20178200-20185800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr3:20178200-20195200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr3:20178400-20186000	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr3:20178400-20191800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr3:20179000-20196400	Weak transcription	HUVEC	blood vessel
28	chr3:20179400-20197600	Weak transcription	Right Atrium	heart
29	chr3:20181400-20185800	Strong transcription	Primary T cells from cord blood	blood
30	chr3:20181400-20195600	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr3:20181800-20200200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:20182200-20187400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr3:20182400-20195200	Strong transcription	Primary B cells from peripheral blood	blood
34	chr3:20182400-20196400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:20182600-20201400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr3:20182800-20198000	Weak transcription	Ovary	ovary
37	chr3:20183200-20188000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr3:20183200-20192800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:20183600-20185800	Strong transcription	Primary hematopoietic stem cells	blood
40	chr3:20183600-20201000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr3:20183800-20187400	Weak transcription	Brain Germinal Matrix	brain
42	chr3:20183800-20188000	Weak transcription	Psoas Muscle	Psoas
43	chr3:20183800-20193000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:20183800-20196000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:20183800-20196000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr3:20183800-20196400	Weak transcription	Fetal Intestine Small	intestine
47	chr3:20183800-20196800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:20183800-20198000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr3:20183800-20198400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr3:20183800-20199600	Weak transcription	H1 Cell Line	embryonic stem cell

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