Variant report

Variant	esv3311445
Chromosome Location	chr15:78008353-78012689
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:73923669..73926089-chr15:78010481..78013463,2	K562	blood:
2	chr15:78006781..78008736-chr15:78010587..78012816,2	K562	blood:
3	chr15:78008270..78009842-chr15:78011273..78013230,2	MCF-7	breast:
4	chr15:78006781..78008736-chr15:78010587..78012816,2	K562	blood:
5	chr15:78008224..78009963-chr15:78011351..78014041,3	MCF-7	breast:
6	chr15:78009070..78011036-chr15:78012914..78014777,2	K562	blood:
7	chr15:78006143..78008281-chr15:78009901..78012087,2	K562	blood:

Variant related genes	Relation type
ENSG00000169783	chromatin interactions
ENSG00000156642	chromatin interactions

Extended variants
information (count: 208 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:208 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367863497	chr15:78008389-78008390	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs4073356	chr15:78008430-78008431	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs554172744	chr15:78008444-78008445	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs115043809	chr15:78008463-78008464	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536700458	chr15:78008480-78008481	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs544367031	chr15:78008486-78008487	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs141778917	chr15:78008543-78008544	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs576200137	chr15:78008582-78008583	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs180835767	chr15:78008589-78008590	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs558607233	chr15:78008595-78008596	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs201209680	chr15:78008607-78008608	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs374598878	chr15:78008608-78008609	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs5813879	chr15:78008622-78008623	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs143048795	chr15:78008623-78008624	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs60720830	chr15:78008624-78008625	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs112965909	chr15:78008625-78008626	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs577039209	chr15:78008648-78008649	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs560840871	chr15:78008745-78008746	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs558883431	chr15:78008746-78008747	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs534043953	chr15:78008759-78008760	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs529636627	chr15:78008773-78008774	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs11855821	chr15:78008843-78008844	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs563380130	chr15:78008871-78008872	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs552028564	chr15:78008880-78008881	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs114540731	chr15:78008910-78008911	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs150835389	chr15:78008911-78008912	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs74407398	chr15:78009037-78009038	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs532797363	chr15:78009085-78009086	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs35723803	chr15:78009088-78009089	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs139251071	chr15:78009239-78009240	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs555292398	chr15:78009252-78009253	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs201672507	chr15:78009267-78009268	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs74025399	chr15:78009292-78009293	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs146564642	chr15:78009309-78009310	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs186322780	chr15:78009326-78009327	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs536872335	chr15:78009385-78009386	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs558686228	chr15:78009386-78009387	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs577074251	chr15:78009413-78009414	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs534645168	chr15:78009414-78009415	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs71462545	chr15:78009418-78009419	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs34968270	chr15:78009424-78009425	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs397854430	chr15:78009425-78009426	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs574129384	chr15:78009441-78009442	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs4569231	chr15:78009448-78009449	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs563257989	chr15:78009450-78009451	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs527706348	chr15:78009547-78009548	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs575262680	chr15:78009558-78009559	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs543661727	chr15:78009570-78009571	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs140142185	chr15:78009588-78009589	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs532752166	chr15:78009597-78009598	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78003400-78009600	Weak transcription	Brain Germinal Matrix	brain
2	chr15:78004000-78009800	Weak transcription	Fetal Brain Female	brain
3	chr15:78004600-78012000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr15:78005200-78008800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr15:78005400-78008800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:78006400-78013000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:78007000-78016600	Weak transcription	Brain Angular Gyrus	brain
8	chr15:78008800-78009400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr15:78008800-78010000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:78009200-78010000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:78009200-78010000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr15:78009200-78012000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr15:78009400-78010000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
14	chr15:78009400-78010000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:78009400-78010000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
16	chr15:78009400-78010200	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr15:78009400-78011800	Enhancers	Fetal Brain Male	brain
18	chr15:78009400-78015200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr15:78009600-78009800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:78009600-78009800	Enhancers	Brain Germinal Matrix	brain
21	chr15:78009800-78010000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr15:78009800-78010200	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr15:78009800-78010200	Enhancers	Fetal Brain Female	brain
24	chr15:78009800-78012200	Weak transcription	Brain Germinal Matrix	brain
25	chr15:78010000-78010200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:78010000-78015200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr15:78010000-78015800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr15:78010200-78012200	Weak transcription	Fetal Brain Female	brain
29	chr15:78011800-78012000	Bivalent Enhancer	Fetal Brain Male	brain
30	chr15:78012000-78012200	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
31	chr15:78012000-78012200	Bivalent Enhancer	Fetal Kidney	kidney
32	chr15:78012000-78012400	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr15:78012000-78015800	Weak transcription	Fetal Heart	heart
34	chr15:78012200-78012400	Bivalent Enhancer	Fetal Brain Male	brain
35	chr15:78012200-78013000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
36	chr15:78012200-78013000	Enhancers	Fetal Brain Female	brain
37	chr15:78012200-78013400	Enhancers	Brain Germinal Matrix	brain
38	chr15:78012400-78012600	Enhancers	Spleen	Spleen
39	chr15:78012400-78012800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr15:78012400-78013400	Enhancers	Fetal Brain Male	brain
41	chr15:78012400-78016000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr15:78012600-78013200	Weak transcription	Spleen	Spleen
43	chr15:78012600-78013600	Enhancers	Fetal Muscle Trunk	muscle
44	chr15:78012600-78013600	Enhancers	Fetal Muscle Leg	muscle

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