Variant report

Variant	nsv1037524
Chromosome Location	chr15:46098040-46138427
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	chr15:46119183..46120143-chr15:46222287..46222847,2	MCF-7	breast:

Extended variants
information (count: 894 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:894 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2413794	chr15:46103010-46103011	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74010714	chr15:46103233-46103234	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs370569698	chr15:46103269-46103270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551936461	chr15:46103281-46103282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377024670	chr15:46103289-46103290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571678878	chr15:46103322-46103323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139917434	chr15:46103333-46103334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs117383830	chr15:46103345-46103346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112525826	chr15:46103358-46103359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs68120365	chr15:46103368-46103369	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs548877770	chr15:46103398-46103399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536553535	chr15:46103412-46103413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11636751	chr15:46103423-46103424	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs143414805	chr15:46103495-46103496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544907188	chr15:46103500-46103501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190937569	chr15:46103530-46103531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182835834	chr15:46103531-46103532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146745849	chr15:46103557-46103558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11637752	chr15:46103573-46103574	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs529617061	chr15:46103595-46103596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538919815	chr15:46104008-46104009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114835994	chr15:46104024-46104025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150285207	chr15:46104036-46104037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374310863	chr15:46104046-46104047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs77300023	chr15:46104047-46104048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574179202	chr15:46104123-46104124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539870546	chr15:46104137-46104138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539800698	chr15:46104170-46104171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558145266	chr15:46104183-46104184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559716016	chr15:46104203-46104204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144898885	chr15:46104225-46104226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552008392	chr15:46104239-46104240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149044150	chr15:46104245-46104246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6493178	chr15:46104254-46104255	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs116002630	chr15:46104265-46104266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145870982	chr15:46104266-46104267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530193540	chr15:46104270-46104271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191732305	chr15:46104273-46104274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183201723	chr15:46104274-46104275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188258043	chr15:46104299-46104300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537949293	chr15:46104301-46104302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192439257	chr15:46104307-46104308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138755649	chr15:46104311-46104312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538079281	chr15:46104331-46104332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554322797	chr15:46104346-46104347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143972976	chr15:46104433-46104434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146787210	chr15:46104453-46104454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538658892	chr15:46104467-46104468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576725663	chr15:46104495-46104496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545399786	chr15:46104505-46104506	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:46103000-46103600	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr15:46104000-46105000	Enhancers	Adipose Nuclei	Adipose
3	chr15:46104000-46105400	Enhancers	HUVEC	blood vessel
4	chr15:46119600-46119800	Enhancers	Pancreas	Pancrea
5	chr15:46120000-46121200	Weak transcription	Pancreas	Pancrea
6	chr15:46120800-46121800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr15:46121200-46122200	Enhancers	Fetal Muscle Leg	muscle
8	chr15:46121200-46122800	Enhancers	Pancreas	Pancrea
9	chr15:46121400-46122200	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr15:46121400-46122400	Enhancers	Fetal Muscle Trunk	muscle
11	chr15:46121400-46123000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:46121600-46121800	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr15:46121600-46122000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr15:46121800-46122000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr15:46121800-46122000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr15:46121800-46122200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr15:46121800-46122200	Active TSS	Colonic Mucosa	Colon
18	chr15:46121800-46122200	Enhancers	Esophagus	oesophagus
19	chr15:46122000-46122200	Enhancers	Gastric	stomach
20	chr15:46122800-46133000	Weak transcription	Pancreas	Pancrea
21	chr15:46127200-46127400	Enhancers	Fetal Muscle Leg	muscle
22	chr15:46127400-46129400	Weak transcription	Fetal Muscle Leg	muscle
23	chr15:46129400-46130200	Enhancers	Fetal Brain Male	brain
24	chr15:46129400-46130200	Enhancers	Fetal Muscle Leg	muscle
25	chr15:46130200-46133600	Weak transcription	Fetal Brain Male	brain
26	chr15:46133000-46133200	Enhancers	Primary hematopoietic stem cells	blood
27	chr15:46133000-46134000	Enhancers	Pancreas	Pancrea
28	chr15:46133600-46134000	Enhancers	Lung	lung
29	chr15:46133600-46134200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr15:46133600-46134400	Enhancers	Fetal Brain Male	brain
31	chr15:46133600-46134800	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr15:46133800-46134400	Enhancers	Colonic Mucosa	Colon
33	chr15:46133800-46134400	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr15:46134000-46134800	Enhancers	Liver	Liver
35	chr15:46134000-46134800	Enhancers	HepG2	liver
36	chr15:46134000-46139400	Weak transcription	Pancreas	Pancrea
37	chr15:46134400-46134600	Enhancers	Fetal Stomach	stomach
38	chr15:46134400-46137000	Weak transcription	Fetal Brain Male	brain
39	chr15:46136600-46136800	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr15:46137000-46137400	Enhancers	Fetal Brain Male	brain

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