Variant report

Variant	esv2053772
Chromosome Location	chr2:191063931-191064391
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191062978..191067308-chr2:191069746..191072703,3	K562	blood:
2	chr2:191062034..191064478-chr2:191069746..191072608,2	K562	blood:
3	chr2:191058046..191059738-chr2:191062571..191064131,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198130	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138424235	chr2:191063957-191063958	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs552485310	chr2:191063976-191063977	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs570640140	chr2:191064031-191064032	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs114384514	chr2:191064032-191064033	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs13415995	chr2:191064056-191064057	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs149250527	chr2:191064077-191064078	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs574335456	chr2:191064113-191064114	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs565892582	chr2:191064114-191064115	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs535549693	chr2:191064132-191064133	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs149837078	chr2:191064164-191064165	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs557091661	chr2:191064221-191064222	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576753719	chr2:191064223-191064224	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs544018166	chr2:191064239-191064240	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs565602533	chr2:191064248-191064249	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs548468183	chr2:191064264-191064265	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs368416409	chr2:191064265-191064266	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs13429540	chr2:191064273-191064274	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs541674521	chr2:191064386-191064387	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs559494977	chr2:191064387-191064388	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

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:107 , 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	chr2:191046200-191064200	Weak transcription	HSMM	muscle
4	chr2:191046400-191064400	Weak transcription	Pancreas	Pancrea
5	chr2:191046400-191064400	Weak transcription	Psoas Muscle	Psoas
6	chr2:191046400-191070400	Weak transcription	Fetal Stomach	stomach
7	chr2:191046600-191064400	Weak transcription	Brain Angular Gyrus	brain
8	chr2:191046600-191086400	Weak transcription	Colonic Mucosa	Colon
9	chr2:191047000-191080400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:191047600-191081000	Weak transcription	Brain Anterior Caudate	brain
11	chr2:191048200-191073800	Weak transcription	Aorta	Aorta
12	chr2:191049200-191064400	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:191052000-191108800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:191053000-191078200	Weak transcription	Right Ventricle	heart
15	chr2:191056600-191070200	Weak transcription	NHDF-Ad	bronchial
16	chr2:191056800-191064400	Weak transcription	Esophagus	oesophagus
17	chr2:191056800-191124600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr2:191056800-191131800	Weak transcription	NHEK	skin
19	chr2:191057000-191078400	Weak transcription	Thymus	Thymus
20	chr2:191057200-191076200	Weak transcription	Fetal Kidney	kidney
21	chr2:191057800-191087800	Weak transcription	Fetal Brain Female	brain
22	chr2:191058000-191076000	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:191059800-191064400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:191059800-191064600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr2:191060000-191107000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr2:191060200-191066600	Weak transcription	Dnd41	blood
27	chr2:191060200-191078600	Weak transcription	NH-A	brain
28	chr2:191060200-191090600	Weak transcription	A549	lung
29	chr2:191060400-191068000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:191060400-191076600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:191060600-191072000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr2:191060600-191074000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:191060600-191078200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:191060600-191084000	Weak transcription	HUVEC	blood vessel
35	chr2:191060600-191087800	Weak transcription	Brain Germinal Matrix	brain
36	chr2:191060800-191079600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:191060800-191180000	Weak transcription	Small Intestine	intestine
38	chr2:191061000-191064400	Weak transcription	Brain Substantia Nigra	brain
39	chr2:191061000-191070200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:191061000-191089200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr2:191061200-191070200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr2:191061400-191064600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr2:191061400-191068600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:191061600-191065000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:191061600-191065000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr2:191061600-191065200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:191061600-191065200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:191061800-191064600	Strong transcription	Liver	Liver
49	chr2:191061800-191064800	Strong transcription	Ovary	ovary
50	chr2:191061800-191065200	Strong transcription	Primary T cells from cord blood	blood

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