Variant report

Variant	nsv875519
Chromosome Location	chr2:186109320-186213755
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:186143515..186145768-chr2:186146038..186148779,2	K562	blood:
2	chr2:186143515..186145768-chr2:186146038..186148779,2	K562	blood:
3	chr2:186155520..186156521-chr2:186603367..186604286,4	MCF-7	breast:
4	chr2:186072741..186073624-chr2:186144398..186145591,5	MCF-7	breast:
5	chr2:186072660..186073262-chr2:186144866..186145404,2	MCF-7	breast:
6	chr2:186165249..186167610-chr2:186167652..186170395,2	MCF-7	breast:
7	chr2:186182448..186185032-chr9:101737617..101739647,2	MCF-7	breast:
8	chr2:186165249..186167610-chr2:186167652..186170395,2	MCF-7	breast:
9	chr2:186093080..186095459-chr2:186142189..186144036,2	K562	blood:
10	chr2:186069210..186070750-chr2:186136891..186138828,2	MCF-7	breast:
11	chr2:186075062..186075812-chr2:186144515..186145151,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226747	chromatin interactions
ENSG00000188738	chromatin interactions

Extended variants
information (count: 1194 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1194 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13423839	chr2:186110629-186110630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139443885	chr2:186110648-186110649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190095875	chr2:186110665-186110666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556426677	chr2:186110727-186110728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34148168	chr2:186110729-186110730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117067089	chr2:186110748-186110749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545205263	chr2:186110756-186110757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113898281	chr2:186110764-186110765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374958654	chr2:186110769-186110770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572191462	chr2:186110770-186110771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542751949	chr2:186110774-186110775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560943590	chr2:186110790-186110791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111706897	chr2:186110829-186110830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148699493	chr2:186110865-186110866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112525380	chr2:186110884-186110885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532568501	chr2:186110900-186110901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569873956	chr2:186119415-186119416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs62200003	chr2:186119460-186119461	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs191145746	chr2:186119472-186119473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74651300	chr2:186119486-186119487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535035794	chr2:186119504-186119505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553676602	chr2:186119532-186119533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373260618	chr2:186119616-186119617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536184410	chr2:186119623-186119624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557267886	chr2:186119634-186119635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113900401	chr2:186119657-186119658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139729008	chr2:186119665-186119666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183804579	chr2:186119717-186119718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377153325	chr2:186119724-186119725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558246294	chr2:186119786-186119787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576402219	chr2:186119846-186119847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370566763	chr2:186119932-186119933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74934055	chr2:186119940-186119941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558956865	chr2:186119951-186119952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114960285	chr2:186119968-186119969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542154341	chr2:186119973-186119974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149801020	chr2:186119975-186119976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188294032	chr2:186119977-186119978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371882929	chr2:186119999-186120000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570983451	chr2:186120023-186120024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559148341	chr2:186120024-186120025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13392489	chr2:186120083-186120084	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs554501528	chr2:186120100-186120101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs193056210	chr2:186120105-186120106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568486985	chr2:186120153-186120154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535726265	chr2:186120154-186120155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112274914	chr2:186120174-186120175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557641757	chr2:186120175-186120176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569316553	chr2:186120214-186120215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184765442	chr2:186120232-186120233	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186110600-186111000	Enhancers	Fetal Heart	heart
2	chr2:186119400-186121000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:186124200-186124400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:186124400-186129400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:186128400-186129200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:186129200-186129600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:186129400-186129600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
8	chr2:186129600-186130600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:186130200-186130800	Enhancers	H9 Cell Line	embryonic stem cell
10	chr2:186130400-186132200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:186130600-186131000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:186130600-186131000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:186130600-186132000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:186130800-186131800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:186131000-186131800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:186131800-186132000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr2:186131800-186132000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:186138800-186139000	Enhancers	Pancreas	Pancrea
19	chr2:186139000-186144000	Weak transcription	Pancreas	Pancrea
20	chr2:186139400-186140000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:186139600-186140200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr2:186139800-186140200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:186139800-186140200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:186140600-186141000	Enhancers	Fetal Intestine Large	intestine
25	chr2:186140600-186141400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:186154200-186154600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:186154200-186155000	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr2:186154400-186154600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:186154600-186154800	Active TSS	Placenta	Placenta
30	chr2:186154600-186155000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr2:186154600-186155000	Enhancers	Pancreas	Pancrea
32	chr2:186154600-186155000	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr2:186154600-186155400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:186154600-186155400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:186154600-186155400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr2:186154600-186155400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr2:186154600-186155400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:186154600-186155400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr2:186154600-186155600	Enhancers	H9 Cell Line	embryonic stem cell
40	chr2:186154800-186155000	Flanking Bivalent TSS/Enh	Placenta	Placenta
41	chr2:186154800-186155000	Enhancers	HepG2	liver
42	chr2:186154800-186155400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:186154800-186155400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr2:186154800-186155400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr2:186154800-186156200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:186154800-186156200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:186155000-186155400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr2:186155000-186155400	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr2:186155000-186155400	Enhancers	Stomach Mucosa	stomach
50	chr2:186155000-186155800	Weak transcription	Pancreas	Pancrea

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