Variant report

Variant	esv2318138
Chromosome Location	chr2:191284710-191285128
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191283738..191285427-chr2:191577690..191580549,2	MCF-7	breast:
2	chr2:191271590..191276457-chr2:191281985..191285840,5	MCF-7	breast:
3	chr2:191281256..191282888-chr2:191283439..191285741,2	K562	blood:
4	chr2:191283057..191285347-chr2:191287084..191288726,2	K562	blood:
5	chr2:191283847..191285576-chr2:191285835..191288726,2	K562	blood:

Variant related genes	Relation type
ENSG00000151690	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528027045	chr2:191284732-191284733	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs142583819	chr2:191284733-191284734	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs567884141	chr2:191284751-191284752	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs35739308	chr2:191284784-191284785	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs72903383	chr2:191284865-191284866	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs372132810	chr2:191284899-191284900	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs199776249	chr2:191284900-191284901	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs200952809	chr2:191284901-191284902	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs201785096	chr2:191284902-191284903	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs199592774	chr2:191284931-191284932	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200498949	chr2:191284932-191284933	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs397987041	chr2:191284933-191284934	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs556713867	chr2:191284940-191284941	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571629315	chr2:191284973-191284974	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs369118425	chr2:191285000-191285001	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373089227	chr2:191285008-191285009	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs192758736	chr2:191285040-191285041	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs536584211	chr2:191285056-191285057	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs114270140	chr2:191285116-191285117	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs146718608	chr2:191285117-191285118	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:47)

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	21364760	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191273800-191301400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:191274200-191291600	Weak transcription	Fetal Stomach	stomach
3	chr2:191274400-191285000	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:191274600-191291400	Weak transcription	Fetal Intestine Large	intestine
5	chr2:191274800-191285000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:191274800-191286000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr2:191274800-191300800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:191277400-191291400	Weak transcription	Fetal Intestine Small	intestine
9	chr2:191278400-191291200	Weak transcription	Fetal Brain Female	brain
10	chr2:191278400-191291600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:191278600-191301200	Weak transcription	Pancreas	Pancrea
12	chr2:191278800-191285200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:191278800-191290000	Weak transcription	K562	blood
14	chr2:191278800-191300800	Weak transcription	Fetal Thymus	thymus
15	chr2:191278800-191301200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:191279000-191296800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:191279000-191300800	Weak transcription	Esophagus	oesophagus
18	chr2:191279200-191303000	Weak transcription	NHEK	skin
19	chr2:191279400-191296400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:191279800-191285400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr2:191279800-191285600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr2:191280400-191291400	Weak transcription	Thymus	Thymus
23	chr2:191280400-191296400	Weak transcription	Spleen	Spleen
24	chr2:191280800-191296400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:191281400-191291600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:191281400-191292800	Weak transcription	Dnd41	blood
27	chr2:191281400-191296800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:191281400-191298600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:191281600-191290000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr2:191281800-191296800	Weak transcription	Small Intestine	intestine
31	chr2:191282200-191289400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:191282200-191296800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:191282400-191284800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:191282400-191285000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:191282400-191297000	Weak transcription	Ovary	ovary
36	chr2:191282600-191285200	Weak transcription	GM12878-XiMat	blood
37	chr2:191282600-191297000	Weak transcription	Fetal Muscle Leg	muscle
38	chr2:191282800-191285200	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr2:191282800-191301200	Weak transcription	Fetal Brain Male	brain
40	chr2:191283000-191289800	Weak transcription	Brain Anterior Caudate	brain
41	chr2:191283000-191292800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:191283200-191285200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:191283200-191289600	Weak transcription	Primary T cells from cord blood	blood
44	chr2:191283200-191301000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr2:191283600-191286400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr2:191283800-191286800	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:191283800-191289600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr2:191284000-191290000	Weak transcription	Primary B cells from cord blood	blood
49	chr2:191284000-191296400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr2:191284200-191286200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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