Variant report

Variant	esv3378076
Chromosome Location	chr2:186153495-186175476
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:186155520..186156521-chr2:186603367..186604286,4	MCF-7	breast:
2	chr2:186165249..186167610-chr2:186167652..186170395,2	MCF-7	breast:
3	chr2:186165249..186167610-chr2:186167652..186170395,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188738	chromatin interactions
ENSG00000226747	chromatin interactions

Extended variants
information (count: 279 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:279 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529925184	chr2:186154238-186154239	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548470979	chr2:186154295-186154296	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569976866	chr2:186154362-186154363	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537197806	chr2:186154386-186154387	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558838562	chr2:186154420-186154421	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185255780	chr2:186154429-186154430	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535155477	chr2:186154486-186154487	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145655743	chr2:186154500-186154501	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145388186	chr2:186154502-186154503	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541840598	chr2:186154536-186154537	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557193483	chr2:186154548-186154549	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12473239	chr2:186154554-186154555	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs527663091	chr2:186154571-186154572	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545986027	chr2:186154573-186154574	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149219765	chr2:186154606-186154607	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs35506523	chr2:186154620-186154621	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs12466047	chr2:186154684-186154685	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs570422900	chr2:186154746-186154747	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs369779828	chr2:186154752-186154753	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs529651380	chr2:186154774-186154775	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs548209683	chr2:186154813-186154814	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs114723210	chr2:186154868-186154869	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs530865250	chr2:186154898-186154899	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs552382893	chr2:186154949-186154950	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs570651173	chr2:186154950-186154951	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs534536981	chr2:186154980-186154981	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs202076843	chr2:186155029-186155030	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568473669	chr2:186155078-186155079	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537948052	chr2:186155088-186155089	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535414416	chr2:186155138-186155139	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556984754	chr2:186155285-186155286	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143321528	chr2:186155297-186155298	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148349186	chr2:186155298-186155299	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568302325	chr2:186155309-186155310	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558046939	chr2:186155423-186155424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573358644	chr2:186155544-186155545	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs540479917	chr2:186155558-186155559	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs13417063	chr2:186155566-186155567	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs114229199	chr2:186155586-186155587	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs563304958	chr2:186155588-186155589	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs372421713	chr2:186155634-186155635	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs143263826	chr2:186155655-186155656	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs189719550	chr2:186155673-186155674	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs112230438	chr2:186155675-186155676	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs13394591	chr2:186155710-186155711	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs142859603	chr2:186155734-186155735	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs372364480	chr2:186155735-186155736	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs56707172	chr2:186155737-186155738	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs201931125	chr2:186155738-186155739	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs58411026	chr2:186155765-186155766	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186154200-186154600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr2:186154200-186155000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr2:186154400-186154600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:186154600-186154800	Active TSS	Placenta	Placenta
5	chr2:186154600-186155000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr2:186154600-186155000	Enhancers	Pancreas	Pancrea
7	chr2:186154600-186155000	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr2:186154600-186155400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:186154600-186155400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:186154600-186155400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr2:186154600-186155400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr2:186154600-186155400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:186154600-186155400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:186154600-186155600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr2:186154800-186155000	Flanking Bivalent TSS/Enh	Placenta	Placenta
16	chr2:186154800-186155000	Enhancers	HepG2	liver
17	chr2:186154800-186155400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:186154800-186155400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:186154800-186155400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:186154800-186156200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:186154800-186156200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:186155000-186155400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr2:186155000-186155400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr2:186155000-186155400	Enhancers	Stomach Mucosa	stomach
25	chr2:186155000-186155800	Weak transcription	Pancreas	Pancrea
26	chr2:186155000-186156000	Weak transcription	HepG2	liver
27	chr2:186155000-186156200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:186155000-186160600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr2:186155400-186155600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:186155400-186155600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:186156000-186156200	Enhancers	Pancreas	Pancrea
32	chr2:186156000-186156200	Enhancers	HepG2	liver
33	chr2:186156000-186156400	Enhancers	HMEC	breast
34	chr2:186160600-186160800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell

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