Variant report

Variant	esv2573192
Chromosome Location	chr15:45134952-45144769
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	BCL11A	chr15:45137220-45137412	GM12878	blood:	n/a	n/a
2	CEBPB	chr15:45144416-45144724	HepG2	liver:	n/a	chr15:45144570-45144581
3	CEBPB	chr15:45144517-45144702	Hela-S3	cervix:	n/a	chr15:45144570-45144581
4	CEBPB	chr15:45144483-45144746	K562	blood:	n/a	chr15:45144570-45144581
5	CTCF	chr15:45141120-45141270	HCPEpiC	choroid plexus:	n/a	n/a
6	CTCF	chr15:45138479-45138666	K562	blood:	n/a	chr15:45138563-45138584
7	CTCF	chr15:45141235-45141321	Gliobla	brain:	n/a	n/a
8	CTCF	chr15:45141195-45141335	NHEK	skin:	n/a	n/a
9	CTCF	chr15:45141212-45141334	LNCaP	prostate:	n/a	n/a
10	CTCF	chr15:45141160-45141310	HPAF	blood vessel:	n/a	n/a
11	CTCF	chr15:45141260-45141410	NHEK	skin:	n/a	n/a
12	CTCF	chr15:45138545-45138554	GM10266	blood:	n/a	n/a
13	CTCF	chr15:45141131-45141356	A549	lung:	n/a	n/a
14	CTCF	chr15:45138576-45138589	HUVEC	blood vessel:	n/a	n/a
15	CTCF	chr15:45141105-45141352	K562	blood:	n/a	n/a
16	CTCF	chr15:45141172-45141373	K562	blood:	n/a	n/a
17	CTCF	chr15:45138541-45138598	GM13976	blood:	n/a	chr15:45138563-45138584
18	CTCF	chr15:45141160-45141310	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr15:45141239-45141244	Kidney_OC	kidney:	n/a	n/a
20	CTCF	chr15:45141180-45141330	HCM	heart:	n/a	n/a
21	CTCF	chr15:45141076-45141340	K562	blood:	n/a	n/a
22	CTCF	chr15:45141103-45141426	K562	blood:	n/a	n/a
23	CTCF	chr15:45141229-45141238	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr15:45141160-45141310	HepG2	liver:	n/a	n/a
25	CTCF	chr15:45141197-45141353	MCF-7	breast:	n/a	n/a
26	CTCF	chr15:45141160-45141310	HBMEC	blood vessel:	n/a	n/a
27	CTCF	chr15:45138505-45138644	Pancreas_OC	pancreas:	n/a	chr15:45138563-45138584
28	CTCF	chr15:45138526-45138614	Hela-S3	cervix:	n/a	chr15:45138563-45138584
29	CTCF	chr15:45141150-45141359	HepG2	liver:	n/a	n/a
30	CTCF	chr15:45141197-45141342	LNCaP	prostate:	n/a	n/a
31	CTCF	chr15:45141228-45141322	Fibrobl	skin:	n/a	n/a
32	CTCF	chr15:45138539-45138575	HUVEC	blood vessel:	n/a	n/a
33	CTCF	chr15:45141140-45141290	HMEC	breast:	n/a	n/a
34	CTCF	chr15:45144640-45144790	HPF	lung:	n/a	n/a
35	CTCF	chr15:45138426-45138674	K562	blood:	n/a	chr15:45138563-45138584
36	CTCF	chr15:45141160-45141310	WERI-Rb-1	eye:	n/a	n/a
37	CTCF	chr15:45141160-45141310	AoAF	blood vessel:	n/a	n/a
38	CTCF	chr15:45141192-45141337	HepG2	liver:	n/a	n/a
39	CTCF	chr15:45141220-45141370	HRPEpiC	eye:	n/a	n/a
40	CTCF	chr15:45141120-45141270	K562	blood:	n/a	n/a
41	CTCF	chr15:45141160-45141310	SAEC	small airway:	n/a	n/a
42	CTCF	chr15:45141166-45141361	MCF-7	breast:	n/a	n/a
43	CTCF	chr15:45141160-45141310	GM12873	blood:	n/a	n/a
44	CTCF	chr15:45141220-45141370	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr15:45138522-45138630	MCF-7	breast:	n/a	chr15:45138563-45138584
46	CTCF	chr15:45138461-45138641	HepG2	liver:	n/a	chr15:45138563-45138584
47	CTCF	chr15:45141187-45141375	HUVEC	blood vessel:	n/a	n/a
48	CTCF	chr15:45141080-45141230	HMEC	breast:	n/a	n/a
49	CTCF	chr15:45138565-45138682	HepG2	liver:	n/a	n/a
50	CTCF	chr15:45141199-45141353	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000238845	TF binding region

Extended variants
information (count: 382 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553301175	chr15:45134964-45134965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74009449	chr15:45134981-45134982	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs545036447	chr15:45134995-45134996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17592201	chr15:45135017-45135018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
5	rs530932875	chr15:45135088-45135089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544660481	chr15:45135089-45135090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560927855	chr15:45135114-45135115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529960757	chr15:45135128-45135129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546807338	chr15:45135133-45135134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371118636	chr15:45135166-45135167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566805948	chr15:45135168-45135169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532424024	chr15:45135189-45135190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551905368	chr15:45135235-45135236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568799620	chr15:45135258-45135259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145072818	chr15:45135259-45135260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188479553	chr15:45135263-45135264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567813649	chr15:45135337-45135338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2462033	chr15:45135350-45135351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs16975717	chr15:45135358-45135359	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs138854575	chr15:45135362-45135363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs16975720	chr15:45135369-45135370	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs545656942	chr15:45135373-45135374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146298734	chr15:45135407-45135408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575546504	chr15:45135439-45135440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544275399	chr15:45135519-45135520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148075516	chr15:45135520-45135521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370343893	chr15:45135542-45135543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540458166	chr15:45135561-45135562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374841506	chr15:45135624-45135625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs16977224	chr15:45135704-45135705	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs2462031	chr15:45135717-45135718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532461607	chr15:45135733-45135734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552405722	chr15:45135786-45135787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113733844	chr15:45135796-45135797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202223005	chr15:45135829-45135830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562350607	chr15:45135849-45135850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531384950	chr15:45135851-45135852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547869840	chr15:45135880-45135881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567852160	chr15:45135911-45135912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2948909	chr15:45135930-45135931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs546812777	chr15:45135945-45135946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566691380	chr15:45135947-45135948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192192306	chr15:45135967-45135968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371743961	chr15:45135972-45135973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150684821	chr15:45135976-45135977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575836911	chr15:45136041-45136042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139920257	chr15:45136085-45136086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554980969	chr15:45136117-45136118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182418959	chr15:45136138-45136139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572853981	chr15:45136140-45136141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Basal cell lymphoma	17053054	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
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45132200-45135000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr15:45134400-45141000	Weak transcription	HepG2	liver
3	chr15:45135000-45135400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr15:45137400-45138200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr15:45137600-45137800	Enhancers	Pancreas	Pancrea
6	chr15:45137800-45145200	Weak transcription	Pancreas	Pancrea
7	chr15:45138000-45138200	Enhancers	Duodenum Mucosa	Duodenum
8	chr15:45141000-45142000	Enhancers	Liver	Liver
9	chr15:45141000-45142200	Enhancers	HepG2	liver
10	chr15:45141200-45145600	Enhancers	HUVEC	blood vessel
11	chr15:45141800-45142200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr15:45141800-45142200	Enhancers	Lung	lung
13	chr15:45142000-45144400	Weak transcription	Liver	Liver
14	chr15:45142200-45143800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr15:45142200-45143800	Weak transcription	HepG2	liver
16	chr15:45143800-45145000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr15:45143800-45145400	Enhancers	HepG2	liver
18	chr15:45144400-45147200	Enhancers	Liver	Liver
19	chr15:45144600-45145400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr15:45144600-45146000	Enhancers	K562	blood

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