Variant report

Variant	esv3389238
Chromosome Location	chr15:42173510-42175708
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42175250..42178134-chr15:42183992..42185929,2	K562	blood:
2	chr15:42169351..42171668-chr15:42175525..42178438,2	K562	blood:

Variant related genes	Relation type
ENSG00000174171	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146528385	chr15:42173570-42173571	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549362148	chr15:42173650-42173651	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184152318	chr15:42173673-42173674	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113231267	chr15:42173698-42173699	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs890496	chr15:42173700-42173701	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs540853256	chr15:42173714-42173715	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560526804	chr15:42173731-42173732	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577426789	chr15:42173757-42173758	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538354437	chr15:42173854-42173855	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111934711	chr15:42173883-42173884	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530694999	chr15:42173884-42173885	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556455235	chr15:42173917-42173918	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112630908	chr15:42173922-42173923	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374841627	chr15:42173967-42173968	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144748919	chr15:42174027-42174028	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529869309	chr15:42174068-42174069	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546392361	chr15:42174069-42174070	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566188107	chr15:42174076-42174077	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201975433	chr15:42174128-42174129	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370303107	chr15:42174147-42174148	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538386002	chr15:42174170-42174171	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551749855	chr15:42174172-42174173	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374737166	chr15:42174278-42174279	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568861044	chr15:42174279-42174280	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538137813	chr15:42174302-42174303	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555207594	chr15:42174337-42174338	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28728451	chr15:42174351-42174352	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568666158	chr15:42174361-42174362	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534351799	chr15:42174362-42174363	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190158350	chr15:42174413-42174414	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577413320	chr15:42174422-42174423	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546349693	chr15:42174431-42174432	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556268458	chr15:42174536-42174537	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368077416	chr15:42174548-42174549	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571849345	chr15:42174550-42174551	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576351341	chr15:42174579-42174580	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368565633	chr15:42174646-42174647	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372001786	chr15:42174672-42174673	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377144820	chr15:42174674-42174675	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372868536	chr15:42174683-42174684	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374510616	chr15:42174714-42174715	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61406498	chr15:42174752-42174753	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561189034	chr15:42174761-42174762	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs193166241	chr15:42174771-42174772	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540027543	chr15:42174806-42174807	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376160803	chr15:42174811-42174812	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369145141	chr15:42174824-42174825	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371369677	chr15:42174835-42174836	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374812160	chr15:42174841-42174842	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368879824	chr15:42174851-42174852	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Colorectal cancer	16774939	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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42141200-42191200	Weak transcription	Aorta	Aorta
2	chr15:42148200-42174400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr15:42157400-42179200	Weak transcription	HSMMtube	muscle
4	chr15:42163200-42174000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr15:42165400-42184800	Weak transcription	HMEC	breast
6	chr15:42169400-42173600	Weak transcription	Fetal Heart	heart
7	chr15:42169400-42173800	Weak transcription	Pancreas	Pancrea
8	chr15:42169600-42174000	Enhancers	Esophagus	oesophagus
9	chr15:42170200-42173800	Weak transcription	Lung	lung
10	chr15:42171000-42173600	Weak transcription	Right Ventricle	heart
11	chr15:42171000-42173600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr15:42172000-42178400	Enhancers	Liver	Liver
13	chr15:42172400-42173600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:42172600-42174000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:42172600-42175800	Strong transcription	HUVEC	blood vessel
16	chr15:42173000-42173600	Active TSS	Spleen	Spleen
17	chr15:42173000-42174000	Strong transcription	HSMM	muscle
18	chr15:42173000-42174400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
19	chr15:42173200-42173600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:42173400-42173600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
21	chr15:42173400-42173800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr15:42173400-42174000	Enhancers	Right Atrium	heart
23	chr15:42173400-42174200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr15:42173400-42174200	Bivalent Enhancer	Fetal Intestine Large	intestine
25	chr15:42173400-42174400	Enhancers	Gastric	stomach
26	chr15:42173400-42175000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr15:42173600-42173800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:42173600-42173800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:42173600-42174000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:42173600-42174000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr15:42173600-42174000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr15:42173600-42174000	Bivalent Enhancer	Adipose Nuclei	Adipose
33	chr15:42173600-42174000	Bivalent Enhancer	Brain Substantia Nigra	brain
34	chr15:42173600-42174000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr15:42173600-42174000	Bivalent/Poised TSS	HepG2	liver
36	chr15:42173600-42174200	Enhancers	Right Ventricle	heart
37	chr15:42173600-42174200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
38	chr15:42173600-42174600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:42173600-42174600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr15:42173600-42174600	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr15:42173600-42175800	Enhancers	Fetal Heart	heart
42	chr15:42173600-42175800	Enhancers	Spleen	Spleen
43	chr15:42173800-42174000	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
44	chr15:42173800-42174000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
45	chr15:42173800-42174000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
46	chr15:42173800-42174000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr15:42173800-42174000	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr15:42173800-42174000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
49	chr15:42173800-42174000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
50	chr15:42173800-42174000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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