Variant report

Variant	esv2558230
Chromosome Location	chr2:191065475-191066733
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	chr2:191062978..191067308-chr2:191069746..191072703,3	K562	blood:

Variant related genes	Relation type
ENSG00000198130	chromatin interactions

Extended variants
information (count: 49 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568833914	chr2:191065480-191065481	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs112120294	chr2:191065502-191065503	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs542009113	chr2:191065519-191065520	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs539167098	chr2:191065523-191065524	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs186106426	chr2:191065524-191065525	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs375021577	chr2:191065535-191065536	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs571002941	chr2:191065558-191065559	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs2271270	chr2:191065595-191065596	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs373115976	chr2:191065608-191065609	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs190635760	chr2:191065627-191065628	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs373735519	chr2:191065643-191065644	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs574770488	chr2:191065658-191065659	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs542090016	chr2:191065661-191065662	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs147204276	chr2:191065662-191065663	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs576294030	chr2:191065675-191065676	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs11889863	chr2:191065720-191065721	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs182824747	chr2:191065734-191065735	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs556348860	chr2:191065738-191065739	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs575772640	chr2:191065761-191065762	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs148658149	chr2:191065762-191065763	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs113411182	chr2:191065774-191065775	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs79463172	chr2:191065782-191065783	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs369357102	chr2:191065783-191065784	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs75167234	chr2:191065784-191065785	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs397944427	chr2:191065785-191065786	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs367788051	chr2:191065786-191065787	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs540403165	chr2:191065791-191065792	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs570477433	chr2:191065809-191065810	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs561839518	chr2:191065818-191065819	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs529222698	chr2:191065865-191065866	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs550850031	chr2:191066028-191066029	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs188209988	chr2:191066041-191066042	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs141240191	chr2:191066059-191066060	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs190897159	chr2:191066149-191066150	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs182931387	chr2:191066166-191066167	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs187478757	chr2:191066191-191066192	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs372662632	chr2:191066223-191066224	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs572701649	chr2:191066381-191066382	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs568274388	chr2:191066402-191066403	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs535750567	chr2:191066403-191066404	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs116591692	chr2:191066442-191066443	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs560651918	chr2:191066469-191066470	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs77114111	chr2:191066487-191066488	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs192523684	chr2:191066496-191066497	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs558000668	chr2:191066558-191066559	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs573311692	chr2:191066562-191066563	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs540700111	chr2:191066586-191066587	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs116364042	chr2:191066650-191066651	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs4853685	chr2:191066683-191066684	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:48)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191046000-191074000	Weak transcription	HMEC	breast
2	chr2:191046000-191088400	Weak transcription	HSMMtube	muscle
3	chr2:191046400-191070400	Weak transcription	Fetal Stomach	stomach
4	chr2:191046600-191086400	Weak transcription	Colonic Mucosa	Colon
5	chr2:191047000-191080400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:191047600-191081000	Weak transcription	Brain Anterior Caudate	brain
7	chr2:191048200-191073800	Weak transcription	Aorta	Aorta
8	chr2:191052000-191108800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:191053000-191078200	Weak transcription	Right Ventricle	heart
10	chr2:191056600-191070200	Weak transcription	NHDF-Ad	bronchial
11	chr2:191056800-191124600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:191056800-191131800	Weak transcription	NHEK	skin
13	chr2:191057000-191078400	Weak transcription	Thymus	Thymus
14	chr2:191057200-191076200	Weak transcription	Fetal Kidney	kidney
15	chr2:191057800-191087800	Weak transcription	Fetal Brain Female	brain
16	chr2:191058000-191076000	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:191060000-191107000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:191060200-191066600	Weak transcription	Dnd41	blood
19	chr2:191060200-191078600	Weak transcription	NH-A	brain
20	chr2:191060200-191090600	Weak transcription	A549	lung
21	chr2:191060400-191068000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:191060400-191076600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:191060600-191072000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:191060600-191074000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr2:191060600-191078200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:191060600-191084000	Weak transcription	HUVEC	blood vessel
27	chr2:191060600-191087800	Weak transcription	Brain Germinal Matrix	brain
28	chr2:191060800-191079600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:191060800-191180000	Weak transcription	Small Intestine	intestine
30	chr2:191061000-191070200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:191061000-191089200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr2:191061200-191070200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:191061400-191068600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:191062200-191065800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:191062200-191079000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:191062400-191066800	Weak transcription	GM12878-XiMat	blood
37	chr2:191062400-191069800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:191062400-191081600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:191062400-191081600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:191062400-191107800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:191062600-191069000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr2:191062600-191074800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:191062600-191078600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:191062600-191081200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr2:191062800-191069800	Weak transcription	Osteobl	bone
46	chr2:191062800-191073800	Weak transcription	Fetal Thymus	thymus
47	chr2:191062800-191079800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:191062800-191081400	Weak transcription	Placenta	Placenta
49	chr2:191062800-191088000	Weak transcription	Fetal Brain Male	brain
50	chr2:191062800-191088600	Weak transcription	Spleen	Spleen

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