Variant report

Variant	esv3338774
Chromosome Location	chr15:78009997-78014295
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr15:78011949-78012314	GM12878	blood:	n/a	n/a
2	CTCF	chr15:78011914-78011934	Lung_OC	lung:	n/a	n/a
3	CTCF	chr15:78011840-78011904	K562	blood:	n/a	n/a
4	JUND	chr15:78013187-78013191	K562	blood:	n/a	n/a
5	MAFK	chr15:78014253-78014691	HepG2	liver:	n/a	chr15:78014290-78014301 chr15:78014290-78014306 chr15:78014291-78014302 chr15:78014290-78014301 chr15:78014289-78014303 chr15:78014539-78014554 chr15:78014291-78014302
6	MAX	chr15:78012611-78012796	K562	blood:	n/a	chr15:78012731-78012740
7	MAZ	chr15:78013288-78013301	K562	blood:	n/a	n/a
8	MYC	chr15:78010695-78010797	MCF-7	breast:	n/a	n/a
9	MYC	chr15:78010778-78010782	GM12878	blood:	n/a	n/a
10	RCOR1	chr15:78011809-78012119	K562	blood:	n/a	n/a
11	RCOR1	chr15:78011811-78012128	K562	blood:	n/a	n/a
12	TAL1	chr15:78011966-78012029	K562	blood:	n/a	n/a
13	UBTF	chr15:78013128-78013341	K562	blood:	n/a	n/a
14	ZNF263	chr15:78013071-78013435	HEK293-T-REx	kidney:	n/a	chr15:78013230-78013251

No.	Distal block	Cell Line	Cell type
1	chr15:73923669..73926089-chr15:78010481..78013463,2	K562	blood:
2	chr15:77996121..77999450-chr15:78013163..78015366,3	K562	blood:
3	chr15:78006143..78008281-chr15:78009901..78012087,2	K562	blood:
4	chr15:78009070..78011036-chr15:78012914..78014777,2	K562	blood:
5	chr15:78006781..78008736-chr15:78010587..78012816,2	K562	blood:

Variant related genes	Relation type
LINGO1	TF binding region
ENSG00000169783	chromatin interactions
ENSG00000156642	chromatin interactions

Extended variants
information (count: 210 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:210 , 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	rs58398016	chr15:78010005-78010006	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560113767	chr15:78010024-78010025	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs530382781	chr15:78010043-78010044	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs4243048	chr15:78010060-78010061	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs563655295	chr15:78010065-78010066	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs77737006	chr15:78010069-78010070	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs372459402	chr15:78010101-78010102	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs145890558	chr15:78010108-78010109	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs116570488	chr15:78010126-78010127	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs185706602	chr15:78010131-78010132	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs117193688	chr15:78010151-78010152	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs12907305	chr15:78010190-78010191	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs556970175	chr15:78010246-78010247	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371777371	chr15:78010250-78010251	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs571919917	chr15:78010280-78010281	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs534618602	chr15:78010291-78010292	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs377588814	chr15:78010310-78010311	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs74538781	chr15:78010356-78010357	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs541660770	chr15:78010395-78010396	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs553565018	chr15:78010415-78010416	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs142739101	chr15:78010512-78010513	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs542557893	chr15:78010514-78010515	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs370244225	chr15:78010532-78010533	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs150358394	chr15:78010533-78010534	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs533313654	chr15:78010616-78010617	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs145257175	chr15:78010635-78010636	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs545849653	chr15:78010648-78010649	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs554306426	chr15:78010674-78010675	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs573989277	chr15:78010675-78010676	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs546390269	chr15:78010707-78010708	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs567958264	chr15:78010728-78010729	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs116340182	chr15:78010738-78010739	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs550888946	chr15:78010743-78010744	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs569038122	chr15:78010749-78010750	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs539301438	chr15:78010750-78010751	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs58395512	chr15:78010762-78010763	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs138028415	chr15:78010779-78010780	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs149548753	chr15:78010791-78010792	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs113610224	chr15:78010794-78010795	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs533825500	chr15:78010808-78010809	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs183205850	chr15:78010828-78010829	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs575119129	chr15:78010847-78010848	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs542034623	chr15:78010854-78010855	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs557656210	chr15:78010862-78010863	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs188169524	chr15:78010870-78010871	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs575814050	chr15:78010928-78010929	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs75050093	chr15:78010932-78010933	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs564090237	chr15:78010933-78010934	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs11072666	chr15:78010949-78010950	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs55803038	chr15:78011002-78011003	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78004600-78012000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr15:78006400-78013000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr15:78007000-78016600	Weak transcription	Brain Angular Gyrus	brain
4	chr15:78008800-78010000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:78009200-78010000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:78009200-78010000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr15:78009200-78012000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr15:78009400-78010000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
9	chr15:78009400-78010000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:78009400-78010000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
11	chr15:78009400-78010200	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr15:78009400-78011800	Enhancers	Fetal Brain Male	brain
13	chr15:78009400-78015200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr15:78009800-78010000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr15:78009800-78010200	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr15:78009800-78010200	Enhancers	Fetal Brain Female	brain
17	chr15:78009800-78012200	Weak transcription	Brain Germinal Matrix	brain
18	chr15:78010000-78010200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:78010000-78015200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr15:78010000-78015800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr15:78010200-78012200	Weak transcription	Fetal Brain Female	brain
22	chr15:78011800-78012000	Bivalent Enhancer	Fetal Brain Male	brain
23	chr15:78012000-78012200	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
24	chr15:78012000-78012200	Bivalent Enhancer	Fetal Kidney	kidney
25	chr15:78012000-78012400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr15:78012000-78015800	Weak transcription	Fetal Heart	heart
27	chr15:78012200-78012400	Bivalent Enhancer	Fetal Brain Male	brain
28	chr15:78012200-78013000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
29	chr15:78012200-78013000	Enhancers	Fetal Brain Female	brain
30	chr15:78012200-78013400	Enhancers	Brain Germinal Matrix	brain
31	chr15:78012400-78012600	Enhancers	Spleen	Spleen
32	chr15:78012400-78012800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr15:78012400-78013400	Enhancers	Fetal Brain Male	brain
34	chr15:78012400-78016000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr15:78012600-78013200	Weak transcription	Spleen	Spleen
36	chr15:78012600-78013600	Enhancers	Fetal Muscle Trunk	muscle
37	chr15:78012600-78013600	Enhancers	Fetal Muscle Leg	muscle
38	chr15:78012800-78013200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr15:78012800-78013600	Enhancers	Placenta Amnion	Placenta Amnion
40	chr15:78013000-78013200	Enhancers	K562	blood
41	chr15:78013000-78013400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr15:78013000-78031200	Weak transcription	Fetal Brain Female	brain
43	chr15:78013200-78013400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr15:78013200-78013400	Enhancers	Spleen	Spleen
45	chr15:78013200-78015200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr15:78013200-78017000	Weak transcription	K562	blood
47	chr15:78013400-78013600	Weak transcription	Spleen	Spleen
48	chr15:78013400-78014600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr15:78013400-78016000	Weak transcription	Fetal Brain Male	brain
50	chr15:78013600-78013800	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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