Variant report

Variant	esv2620400
Chromosome Location	chr2:182355188-182356913
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:182356624-182356917	GM12891	blood:	n/a	n/a
2	POLR2A	chr2:182354924-182355806	HL-60	blood:	n/a	n/a
3	POLR2A	chr2:182355304-182355473	GM12891	blood:	n/a	n/a
4	POLR2A	chr2:182356548-182357058	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:182354358-182355588	GM12891	blood:	n/a	n/a
6	POLR2A	chr2:182356447-182356778	HL-60	blood:	n/a	n/a
7	POLR2A	chr2:182355125-182355576	GM12892	blood:	n/a	n/a
8	POLR2A	chr2:182355281-182355445	GM12878	blood:	n/a	n/a
9	POLR2A	chr2:182356342-182357037	HL-60	blood:	n/a	n/a
10	POLR2A	chr2:182355194-182355483	GM12878	blood:	n/a	n/a
11	POLR2A	chr2:182355245-182355445	GM12878	blood:	n/a	n/a
12	POLR2A	chr2:182355186-182355544	HL-60	blood:	n/a	n/a
13	SPI1	chr2:182356433-182356917	HL-60	blood:	n/a	n/a
14	SPI1	chr2:182356568-182356853	HL-60	blood:	n/a	n/a

Variant related genes	Relation type
ITGA4	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs398080866	chr2:182355193-182355194	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs143570823	chr2:182355199-182355200	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs35723610	chr2:182355212-182355213	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs71033216	chr2:182355232-182355233	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs397837594	chr2:182355243-182355244	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs55773745	chr2:182355246-182355247	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs367978324	chr2:182355249-182355250	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs58444350	chr2:182355250-182355251	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs113192048	chr2:182355254-182355255	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs200565352	chr2:182355260-182355261	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs577649800	chr2:182355295-182355296	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs535675393	chr2:182355321-182355322	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs544730997	chr2:182355331-182355332	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs188525448	chr2:182355417-182355418	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs541336727	chr2:182355440-182355441	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs558041736	chr2:182355461-182355462	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs539297354	chr2:182355484-182355485	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs376894568	chr2:182355497-182355498	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs4667308	chr2:182355511-182355512	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs145724275	chr2:182355523-182355524	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs111868260	chr2:182355534-182355535	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs563027231	chr2:182355691-182355692	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs559778585	chr2:182355735-182355736	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs74886855	chr2:182355790-182355791	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs542273449	chr2:182355791-182355792	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs562165110	chr2:182355843-182355844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4667309	chr2:182355857-182355858	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs547726243	chr2:182355890-182355891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181386224	chr2:182355964-182355965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145466220	chr2:182355983-182355984	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371897001	chr2:182355984-182355985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375360189	chr2:182355985-182355986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369915301	chr2:182356284-182356285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201198393	chr2:182356285-182356286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186530816	chr2:182356286-182356287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548544175	chr2:182356376-182356377	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs200916396	chr2:182356410-182356411	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs200559064	chr2:182356411-182356412	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs201318425	chr2:182356415-182356416	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs531234547	chr2:182356426-182356427	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs532796074	chr2:182356462-182356463	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs549350979	chr2:182356483-182356484	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs155115	chr2:182356501-182356502	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs191800078	chr2:182356530-182356531	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs115828442	chr2:182356532-182356533	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs565744886	chr2:182356595-182356596	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs567321246	chr2:182356642-182356643	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs375911736	chr2:182356643-182356644	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs114191580	chr2:182356687-182356688	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs148954635	chr2:182356690-182356691	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182324400-182410400	Weak transcription	NHLF	lung
2	chr2:182324600-182360400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:182330000-182390200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:182331400-182363400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:182331400-182382200	Weak transcription	HMEC	breast
6	chr2:182334600-182381400	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:182335000-182366800	Weak transcription	Fetal Stomach	stomach
8	chr2:182335000-182405800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr2:182335200-182356200	Weak transcription	Gastric	stomach
10	chr2:182336800-182382800	Weak transcription	Small Intestine	intestine
11	chr2:182338200-182363400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:182338200-182378400	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr2:182338200-182383400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:182338200-182399400	Weak transcription	Colonic Mucosa	Colon
15	chr2:182338200-182406800	Strong transcription	Fetal Thymus	thymus
16	chr2:182338200-182406800	Weak transcription	Spleen	Spleen
17	chr2:182338400-182382200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:182338600-182405600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr2:182339000-182381000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:182339200-182380600	Strong transcription	Dnd41	blood
21	chr2:182339400-182405600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:182339800-182355200	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr2:182341800-182363400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:182344400-182362000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:182344400-182367200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:182346000-182356000	Strong transcription	HSMMtube	muscle
27	chr2:182346000-182378600	Weak transcription	Lung	lung
28	chr2:182346800-182361400	Weak transcription	Fetal Intestine Small	intestine
29	chr2:182347200-182399800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:182347400-182363400	Weak transcription	HSMM	muscle
31	chr2:182348200-182377400	Weak transcription	NH-A	brain
32	chr2:182348600-182359400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:182349000-182360400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:182349400-182356200	Weak transcription	Liver	Liver
35	chr2:182349600-182365000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:182349600-182405800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr2:182349800-182355800	Weak transcription	Left Ventricle	heart
38	chr2:182350400-182384600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:182351000-182360000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:182351000-182360000	Weak transcription	NHDF-Ad	bronchial
41	chr2:182351200-182359800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr2:182351600-182363400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr2:182352200-182356400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr2:182352200-182360000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr2:182352200-182360600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:182352400-182357200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr2:182352600-182356400	Weak transcription	Thymus	Thymus
48	chr2:182352800-182357600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:182353000-182355200	Weak transcription	GM12878-XiMat	blood
50	chr2:182353000-182358000	Weak transcription	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links