Variant report

Variant	esv3341159
Chromosome Location	chr15:62359285-62361833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:62352114..62355489-chr15:62359291..62363476,4	MCF-7	breast:
2	chr15:62361138..62363897-chr15:62365785..62367372,2	MCF-7	breast:
3	chr15:62357601..62360686-chr15:62360802..62364205,4	MCF-7	breast:
4	chr15:62160043..62163025-chr15:62359293..62361455,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129003	chromatin interactions
ENSG00000259251	chromatin interactions
ENSG00000198535	chromatin interactions

Extended variants
information (count: 117 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111804033	chr15:62359304-62359305	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs8039651	chr15:62359350-62359351	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs536895150	chr15:62359398-62359399	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs545582805	chr15:62359482-62359483	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs184311427	chr15:62359558-62359559	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs574018372	chr15:62359632-62359633	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs78371420	chr15:62359639-62359640	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs554178731	chr15:62359644-62359645	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs187859472	chr15:62359697-62359698	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs546236562	chr15:62359738-62359739	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs564461729	chr15:62359752-62359753	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs201974101	chr15:62359786-62359787	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs200125357	chr15:62359791-62359792	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs369125687	chr15:62359797-62359798	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs202022559	chr15:62359801-62359802	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs372637667	chr15:62359813-62359814	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs561963533	chr15:62359828-62359829	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs529518926	chr15:62359834-62359835	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs116376137	chr15:62359862-62359863	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs141345511	chr15:62359864-62359865	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs201183152	chr15:62359876-62359877	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs532831689	chr15:62359880-62359881	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs145128189	chr15:62359888-62359889	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs527930020	chr15:62359890-62359891	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs548063312	chr15:62359904-62359905	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs190774992	chr15:62359912-62359913	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs375986912	chr15:62359913-62359914	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs12911068	chr15:62359914-62359915	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs149436922	chr15:62359919-62359920	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs369284413	chr15:62359921-62359922	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs530018168	chr15:62359935-62359936	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs148089308	chr15:62359997-62359998	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs200284689	chr15:62360009-62360010	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs201166813	chr15:62360028-62360029	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs377636607	chr15:62360033-62360034	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs371100300	chr15:62360037-62360038	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs192425465	chr15:62360042-62360043	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs373879663	chr15:62360048-62360049	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs376974409	chr15:62360051-62360052	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs201702097	chr15:62360067-62360068	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs572394082	chr15:62360094-62360095	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs373748365	chr15:62360107-62360108	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs545922991	chr15:62360110-62360111	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs370399523	chr15:62360115-62360116	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs576427247	chr15:62360116-62360117	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs201738101	chr15:62360117-62360118	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs199710631	chr15:62360122-62360123	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs12911600	chr15:62360213-62360214	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs12911457	chr15:62360216-62360217	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs12911605	chr15:62360229-62360230	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Mental retardation	17124404	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:62356600-62360000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr15:62357200-62360400	Weak transcription	Hela-S3	cervix
3	chr15:62358400-62359600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
4	chr15:62358600-62359400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr15:62358600-62359600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
6	chr15:62358600-62359800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:62358600-62360000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr15:62358600-62360000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
9	chr15:62358600-62360000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr15:62358600-62360000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
11	chr15:62358600-62360000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr15:62358600-62360000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr15:62358600-62360000	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr15:62358600-62360200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
15	chr15:62358600-62360200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:62358600-62360200	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
17	chr15:62358600-62360200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
18	chr15:62358600-62361000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr15:62358800-62359400	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr15:62358800-62359400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr15:62358800-62359400	Bivalent Enhancer	Fetal Brain Male	brain
22	chr15:62358800-62359400	Bivalent/Poised TSS	Fetal Brain Female	brain
23	chr15:62358800-62359400	Bivalent Enhancer	Fetal Lung	lung
24	chr15:62358800-62359400	Flanking Active TSS	Psoas Muscle	Psoas
25	chr15:62358800-62359400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
26	chr15:62358800-62359400	Flanking Active TSS	HUVEC	blood vessel
27	chr15:62358800-62359600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
28	chr15:62358800-62359600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr15:62358800-62359600	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
30	chr15:62358800-62359600	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr15:62358800-62359800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
32	chr15:62358800-62359800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr15:62358800-62359800	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr15:62358800-62359800	Active TSS	Stomach Mucosa	stomach
35	chr15:62358800-62359800	Flanking Bivalent TSS/Enh	Osteobl	bone
36	chr15:62358800-62360000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
37	chr15:62358800-62360000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
38	chr15:62358800-62360000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
39	chr15:62358800-62360000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
40	chr15:62358800-62360000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
41	chr15:62358800-62360000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:62358800-62360000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
43	chr15:62358800-62360000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
44	chr15:62358800-62360000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
45	chr15:62358800-62360000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
46	chr15:62358800-62360000	Flanking Active TSS	HepG2	liver
47	chr15:62358800-62360000	Flanking Bivalent TSS/Enh	NH-A	brain
48	chr15:62358800-62360200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr15:62358800-62360200	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr15:62358800-62360800	Active TSS	Esophagus	oesophagus

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