Variant report

Variant	esv3513853
Chromosome Location	chr15:78064897-78069995
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:78059582..78063718-chr15:78064964..78067132,3	K562	blood:
2	chr15:77951783..77952314-chr15:78066187..78066759,2	MCF-7	breast:
3	chr15:77925491..77927003-chr15:78065547..78066951,12	MCF-7	breast:
4	chr15:78064180..78065710-chr15:78076746..78078989,2	K562	blood:
5	chr15:78062199..78064857-chr15:78066773..78068430,2	K562	blood:
6	chr15:78066595..78068537-chr15:78076215..78077798,2	K562	blood:

Variant related genes	Relation type
ENSG00000169783	chromatin interactions

Extended variants
information (count: 242 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:242 , 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	rs8035962	chr15:78064905-78064906	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72730718	chr15:78064911-78064912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148821111	chr15:78064927-78064928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542845018	chr15:78064930-78064931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561673115	chr15:78064938-78064939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374127296	chr15:78064965-78064966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114756627	chr15:78065007-78065008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146593292	chr15:78065030-78065031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377606699	chr15:78065107-78065108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567187080	chr15:78065118-78065119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556460764	chr15:78065120-78065121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543448433	chr15:78065126-78065127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564904694	chr15:78065129-78065130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112924749	chr15:78065182-78065183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370577734	chr15:78065216-78065217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138416079	chr15:78065218-78065219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12592419	chr15:78065224-78065225	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs529944829	chr15:78065248-78065249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548056947	chr15:78065254-78065255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572997362	chr15:78065272-78065273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116069870	chr15:78065273-78065274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558607821	chr15:78065306-78065307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142413402	chr15:78065386-78065387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534716869	chr15:78065404-78065405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535173307	chr15:78065405-78065406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146847220	chr15:78065430-78065431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574447196	chr15:78065457-78065458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35194002	chr15:78065493-78065494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139239779	chr15:78065519-78065520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74771580	chr15:78065551-78065552	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs554849438	chr15:78065566-78065567	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs555454716	chr15:78065570-78065571	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs373142311	chr15:78065627-78065628	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs565505815	chr15:78065658-78065659	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs372653606	chr15:78065665-78065666	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs117458607	chr15:78065743-78065744	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs189914717	chr15:78065762-78065763	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs141576835	chr15:78065821-78065822	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs150893845	chr15:78065866-78065867	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs4275820	chr15:78065938-78065939	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530229061	chr15:78065949-78065950	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs137920689	chr15:78066000-78066001	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs548379696	chr15:78066071-78066072	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs74027317	chr15:78066074-78066075	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs530827825	chr15:78066092-78066093	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs552459257	chr15:78066122-78066123	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs570751140	chr15:78066146-78066147	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs4404036	chr15:78066210-78066211	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs546256516	chr15:78066246-78066247	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs76175174	chr15:78066266-78066267	Weak transcription Strong transcription	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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78061800-78074800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:78062200-78068000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:78064600-78068600	Weak transcription	Spleen	Spleen
4	chr15:78065200-78066600	Strong transcription	Fetal Intestine Small	intestine
5	chr15:78065800-78066200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr15:78066400-78068200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:78066600-78072600	Weak transcription	Fetal Intestine Small	intestine
8	chr15:78067200-78068000	Enhancers	Fetal Brain Female	brain
9	chr15:78067200-78068200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:78067400-78067600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr15:78067600-78068000	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr15:78067600-78068600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr15:78068000-78068800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:78068000-78073000	Weak transcription	Fetal Brain Female	brain
15	chr15:78068000-78076400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr15:78068200-78068600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:78068200-78078200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr15:78068600-78068800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr15:78068600-78068800	Enhancers	Fetal Muscle Trunk	muscle
20	chr15:78068600-78069000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:78068600-78069200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:78068600-78069200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr15:78068600-78069200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr15:78068600-78069600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr15:78068600-78069600	Enhancers	Spleen	Spleen
26	chr15:78068600-78069800	Enhancers	Fetal Brain Male	brain
27	chr15:78068800-78069400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr15:78069000-78069200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr15:78069000-78069400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr15:78069200-78069600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr15:78069200-78069600	Enhancers	Fetal Muscle Trunk	muscle
32	chr15:78069200-78072200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr15:78069400-78069600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr15:78069600-78070400	Weak transcription	Spleen	Spleen
35	chr15:78069800-78072000	Weak transcription	Fetal Brain Male	brain

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