Variant report

Variant	esv3332462
Chromosome Location	chr2:110268770-110273157
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:110064468..110066338-chr2:110266545..110269505,2	MCF-7	breast:
2	chr2:109898486..109901006-chr2:110267538..110269530,2	MCF-7	breast:
3	chr2:110262467..110264874-chr2:110272739..110275186,2	MCF-7	breast:
4	chr2:110267783..110269712-chr2:110370838..110373129,2	MCF-7	breast:
5	chr2:110265348..110267914-chr2:110269855..110271793,2	MCF-7	breast:
6	chr2:110265713..110268209-chr2:110270053..110271829,2	K562	blood:

Variant related genes	Relation type
ENSG00000198142	chromatin interactions
ENSG00000186522	chromatin interactions

Extended variants
information (count: 168 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:168 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568188315	chr2:110268796-110268797	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs557309733	chr2:110268855-110268856	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs147807811	chr2:110268871-110268872	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs565752818	chr2:110268972-110268973	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs373081988	chr2:110269002-110269003	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs528311310	chr2:110269037-110269038	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs148819097	chr2:110269140-110269141	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs568369207	chr2:110269192-110269193	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs76834890	chr2:110269207-110269208	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs543305562	chr2:110269211-110269212	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs9751647	chr2:110269230-110269231	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs9751648	chr2:110269236-110269237	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs539948182	chr2:110269256-110269257	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs553070295	chr2:110269269-110269270	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs9752241	chr2:110269280-110269281	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs535661049	chr2:110269301-110269302	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs555493636	chr2:110269355-110269356	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs575940263	chr2:110269377-110269378	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs544563776	chr2:110269394-110269395	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs183885884	chr2:110269442-110269443	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs576786126	chr2:110269451-110269452	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs545783183	chr2:110269452-110269453	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs188185012	chr2:110269478-110269479	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs180675487	chr2:110269483-110269484	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs538966887	chr2:110269514-110269515	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs561727714	chr2:110269529-110269530	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs186434603	chr2:110269545-110269546	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs190844018	chr2:110269562-110269563	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs79669047	chr2:110269568-110269569	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs539460866	chr2:110269597-110269598	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs546547656	chr2:110269601-110269602	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs573231739	chr2:110269745-110269746	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375012232	chr2:110269799-110269800	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535550841	chr2:110269820-110269821	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555581968	chr2:110269834-110269835	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575727406	chr2:110269933-110269934	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182117923	chr2:110269934-110269935	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115365078	chr2:110269968-110269969	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10210352	chr2:110269978-110269979	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545819465	chr2:110269994-110269995	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559389275	chr2:110270044-110270045	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs573018777	chr2:110270060-110270061	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs541933771	chr2:110270108-110270109	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs117719722	chr2:110270115-110270116	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs530637659	chr2:110270163-110270164	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs10221803	chr2:110270250-110270251	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs564230950	chr2:110270313-110270314	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs533011166	chr2:110270334-110270335	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs546635589	chr2:110270339-110270340	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs35474331	chr2:110270357-110270358	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Autism	22495311	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Autism	22495309	CNVD
Bipolar disorder	19214233	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
Williams Syndrome	20824207	CNVD
Autism	22549408	CNVD
Autism	21865298	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110256200-110270800	Weak transcription	Esophagus	oesophagus
2	chr2:110256200-110270800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:110256200-110271400	Weak transcription	Ovary	ovary
4	chr2:110257800-110287800	Weak transcription	Gastric	stomach
5	chr2:110258200-110271200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr2:110261600-110271200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:110262800-110270400	Weak transcription	Right Ventricle	heart
8	chr2:110263800-110271000	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:110265600-110270800	Weak transcription	Fetal Kidney	kidney
10	chr2:110267600-110269000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr2:110267600-110269200	Enhancers	Liver	Liver
12	chr2:110267600-110269200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr2:110267600-110269200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr2:110267600-110269400	Enhancers	Fetal Muscle Leg	muscle
15	chr2:110267800-110287600	Weak transcription	Right Atrium	heart
16	chr2:110268000-110270800	Enhancers	GM12878-XiMat	blood
17	chr2:110268200-110269400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:110268200-110271000	Weak transcription	Lung	lung
19	chr2:110268200-110271000	Weak transcription	NHLF	lung
20	chr2:110268400-110269000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:110268400-110269000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr2:110268400-110270800	Weak transcription	Spleen	Spleen
23	chr2:110268400-110271200	Weak transcription	Adipose Nuclei	Adipose
24	chr2:110268800-110269000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:110268800-110269200	Enhancers	HSMM	muscle
26	chr2:110269000-110269200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:110269000-110269200	Enhancers	HSMMtube	muscle
28	chr2:110269000-110269800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr2:110269000-110270800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:110269000-110271000	Enhancers	Stomach Smooth Muscle	stomach
31	chr2:110269200-110270800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:110269200-110270800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:110269200-110271000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:110269200-110271000	Weak transcription	HSMM	muscle
35	chr2:110269200-110271200	Weak transcription	HSMMtube	muscle
36	chr2:110269400-110270600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:110269800-110270000	Enhancers	Pancreas	Pancrea
38	chr2:110269800-110271200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr2:110269800-110272400	Enhancers	HMEC	breast
40	chr2:110270000-110270200	Enhancers	NHEK	skin
41	chr2:110270000-110270800	Weak transcription	Pancreas	Pancrea
42	chr2:110270000-110272400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:110270200-110272400	Enhancers	Fetal Thymus	thymus
44	chr2:110270400-110270600	Enhancers	Right Ventricle	heart
45	chr2:110270600-110270800	Weak transcription	Brain Germinal Matrix	brain
46	chr2:110270600-110271400	Weak transcription	NHEK	skin
47	chr2:110270600-110273600	Weak transcription	Right Ventricle	heart
48	chr2:110270800-110271000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:110270800-110271000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:110270800-110271000	Enhancers	Brain Germinal Matrix	brain

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