Variant report

Variant	nsv3053
Chromosome Location	chr2:178690640-178735132
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:178702452..178704995-chr2:178705681..178708457,3	MCF-7	breast:
2	chr2:178727946..178730460-chr2:178742124..178744649,2	K562	blood:
3	chr12:90226490..90227129-chr2:178733958..178734724,2	HCT-116	colon:
4	chr2:178733289..178735124-chr2:178738141..178740067,2	K562	blood:
5	chr2:178702819..178704367-chr2:178705919..178708336,2	K562	blood:
6	chr2:178692507..178694140-chr2:178718717..178720458,2	K562	blood:
7	chr2:178692507..178694140-chr2:178718717..178720458,2	K562	blood:
8	chr2:178733624..178735578-chr2:178738141..178740013,2	K562	blood:
9	chr2:178702819..178704367-chr2:178705919..178708336,2	K562	blood:
10	chr2:178687471..178690389-chr2:178693544..178695054,2	K562	blood:
11	chr2:178623431..178625587-chr2:178730552..178732853,2	K562	blood:
12	chr2:178702452..178704995-chr2:178705681..178708457,3	MCF-7	breast:

No data

Extended variants
information (count: 1323 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:1323 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535741177	chr2:178691647-178691648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531677875	chr2:178691648-178691649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548772844	chr2:178691713-178691714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192865077	chr2:178691723-178691724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115135191	chr2:178691754-178691755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150707101	chr2:178691781-178691782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372734798	chr2:178691793-178691794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558099524	chr2:178691812-178691813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75221542	chr2:178691820-178691821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182843781	chr2:178691840-178691841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554754986	chr2:178691875-178691876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375718127	chr2:178691888-178691889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141060350	chr2:178691896-178691897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560474453	chr2:178692049-178692050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188313302	chr2:178692083-178692084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546233569	chr2:178692084-178692085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562829534	chr2:178692118-178692119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35391362	chr2:178692122-178692123	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs548439518	chr2:178692148-178692149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569088649	chr2:178692167-178692168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562200485	chr2:178692182-178692183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527911374	chr2:178692204-178692205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375832741	chr2:178692212-178692213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570829813	chr2:178692214-178692215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539712112	chr2:178692246-178692247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551766164	chr2:178692300-178692301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531417779	chr2:178692313-178692314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370004977	chr2:178692328-178692329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539560309	chr2:178692396-178692397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568715502	chr2:178692457-178692458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs3770049	chr2:178692510-178692511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73036088	chr2:178692588-178692589	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs3821011	chr2:178692659-178692660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs375188217	chr2:178692660-178692661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192170396	chr2:178692663-178692664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4413189	chr2:178692694-178692695	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs183629260	chr2:178692747-178692748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189307846	chr2:178692795-178692796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547054865	chr2:178692797-178692798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192656984	chr2:178692822-178692823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73036090	chr2:178692914-178692915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs147936912	chr2:178692965-178692966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542188689	chr2:178693006-178693007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562067519	chr2:178693032-178693033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs3910519	chr2:178693048-178693049	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs141772263	chr2:178693091-178693092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184284894	chr2:178693112-178693113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533451176	chr2:178693124-178693125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550110677	chr2:178693142-178693143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2360221	chr2:178693144-178693145	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:49)

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
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	21720365	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178691600-178692600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:178691600-178692600	Enhancers	Adipose Nuclei	Adipose
3	chr2:178692600-178693000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:178692600-178693000	Weak transcription	Adipose Nuclei	Adipose
5	chr2:178693000-178693600	Enhancers	Adipose Nuclei	Adipose
6	chr2:178693000-178694000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:178693600-178695800	Weak transcription	Adipose Nuclei	Adipose
8	chr2:178694000-178696200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:178694800-178696400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:178695600-178696400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:178695800-178696200	Enhancers	Adipose Nuclei	Adipose
12	chr2:178696200-178696400	Enhancers	Psoas Muscle	Psoas
13	chr2:178696200-178696600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:178696400-178705200	Weak transcription	Psoas Muscle	Psoas
15	chr2:178696800-178698400	Enhancers	Fetal Intestine Large	intestine
16	chr2:178697000-178698000	Enhancers	Gastric	stomach
17	chr2:178697000-178698400	Enhancers	Fetal Intestine Small	intestine
18	chr2:178697400-178698200	Enhancers	Duodenum Mucosa	Duodenum
19	chr2:178698800-178700000	ZNF genes & repeats	Liver	Liver
20	chr2:178699600-178699800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
21	chr2:178699800-178716600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:178700200-178700800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:178700600-178700800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:178701400-178703000	Weak transcription	Pancreas	Pancrea
25	chr2:178702000-178703600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:178703400-178704000	ZNF genes & repeats	Pancreas	Pancrea
27	chr2:178704000-178709000	Weak transcription	Pancreas	Pancrea
28	chr2:178706800-178707200	Enhancers	Small Intestine	intestine
29	chr2:178706800-178707600	Enhancers	Colonic Mucosa	Colon
30	chr2:178706800-178708400	Enhancers	Fetal Intestine Large	intestine
31	chr2:178707000-178707400	Enhancers	Duodenum Mucosa	Duodenum
32	chr2:178707000-178708600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr2:178707200-178707600	Enhancers	Adipose Nuclei	Adipose
34	chr2:178707400-178707600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:178707400-178707800	Enhancers	Small Intestine	intestine
36	chr2:178707600-178708600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:178708600-178709200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:178713800-178714000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:178714000-178716400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:178716400-178716600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:178716600-178717000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:178716600-178717800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:178716600-178718200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr2:178716800-178717000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:178716800-178717000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
46	chr2:178716800-178717400	Enhancers	Adipose Nuclei	Adipose
47	chr2:178716800-178717600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr2:178716800-178717600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr2:178716800-178718000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:178717000-178720600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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