Variant report

Variant	esv2107333
Chromosome Location	chr3:20200756-20201190
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:20195965..20199003-chr3:20200424..20204373,5	K562	blood:
2	chr3:20199507..20201505-chr3:20225585..20228159,2	MCF-7	breast:
3	chr3:20200366..20203372-chr3:20209857..20212107,3	K562	blood:

Variant related genes	Relation type
ENSG00000129810	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577383791	chr3:20200818-20200819	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs372582834	chr3:20200828-20200829	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs530147171	chr3:20200839-20200840	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs548862831	chr3:20200891-20200892	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs570296304	chr3:20200900-20200901	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs141557755	chr3:20200905-20200906	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs184777124	chr3:20200937-20200938	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs7629055	chr3:20200939-20200940	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs538310399	chr3:20200943-20200944	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs7651985	chr3:20200955-20200956	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs368916145	chr3:20200981-20200982	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs200736045	chr3:20200985-20200986	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs565313274	chr3:20200988-20200989	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs535914283	chr3:20201026-20201027	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs554838682	chr3:20201065-20201066	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs142874715	chr3:20201074-20201075	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs17627750	chr3:20201077-20201078	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20141200-20222400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:20159200-20201400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:20164400-20204400	Weak transcription	Small Intestine	intestine
4	chr3:20164800-20211400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:20167800-20226000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr3:20168800-20200800	Weak transcription	GM12878-XiMat	blood
7	chr3:20169800-20201600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:20169800-20202000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr3:20182600-20201400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr3:20183600-20201000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr3:20184600-20220200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:20187400-20201000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr3:20187600-20201200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr3:20188400-20204800	Weak transcription	Fetal Brain Female	brain
15	chr3:20188400-20212400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:20189600-20200800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:20189800-20201600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr3:20190200-20201400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr3:20190200-20201800	Weak transcription	Fetal Intestine Large	intestine
20	chr3:20190400-20202400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr3:20190600-20220200	Weak transcription	Fetal Muscle Leg	muscle
22	chr3:20191200-20200800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:20191600-20201200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr3:20191600-20201400	Weak transcription	Left Ventricle	heart
25	chr3:20191800-20200800	Weak transcription	HSMM	muscle
26	chr3:20191800-20201800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr3:20191800-20201800	Weak transcription	Adipose Nuclei	Adipose
28	chr3:20191800-20202400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr3:20191800-20202600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr3:20192400-20200800	Weak transcription	Fetal Heart	heart
31	chr3:20192400-20201800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr3:20192800-20220600	Weak transcription	Fetal Lung	lung
33	chr3:20193000-20201800	Weak transcription	Colon Smooth Muscle	Colon
34	chr3:20193200-20204000	Strong transcription	Fetal Thymus	thymus
35	chr3:20193800-20226600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr3:20194000-20220400	Weak transcription	NH-A	brain
37	chr3:20194200-20201600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr3:20194200-20205400	Strong transcription	Dnd41	blood
39	chr3:20194800-20215200	Weak transcription	HepG2	liver
40	chr3:20195000-20212400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr3:20195000-20226000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:20195200-20201000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr3:20195200-20201400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr3:20195200-20201400	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr3:20195200-20201600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr3:20195200-20203800	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr3:20195200-20221800	Weak transcription	NHEK	skin
48	chr3:20195400-20201000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr3:20195400-20226000	Weak transcription	NHDF-Ad	bronchial
50	chr3:20195400-20226200	Weak transcription	NHLF	lung

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