Variant report

Variant	esv1806203
Chromosome Location	chr2:39570427-39588797
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	chr2:39564092..39565886-chr2:39568968..39572461,3	K562	blood:
2	chr2:39576198..39578818-chr2:39661442..39663917,2	K562	blood:
3	chr2:39581524..39583959-chr2:39586784..39588300,2	MCF-7	breast:
4	chr2:39566705..39571966-chr2:39574367..39577562,4	K562	blood:
5	chr2:39581524..39583959-chr2:39586784..39588300,2	MCF-7	breast:
6	chr2:39569119..39570627-chr2:39583431..39586281,2	K562	blood:
7	chr2:39575333..39576889-chr2:39590648..39593621,2	K562	blood:
8	chr2:39578352..39581305-chr2:39581449..39583295,2	MCF-7	breast:
9	chr2:39578352..39581305-chr2:39581449..39583295,2	MCF-7	breast:
10	chr2:39566705..39571966-chr2:39574367..39577562,4	K562	blood:
11	chr2:39569119..39570627-chr2:39583431..39586281,2	K562	blood:
12	chr2:39560253..39562366-chr2:39574869..39577046,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000231312	chromatin interactions

Extended variants
information (count: 767 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:767 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3732053	chr2:39570427-39570428	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555197382	chr2:39570455-39570456	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116502019	chr2:39570457-39570458	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540795901	chr2:39570462-39570463	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs55797011	chr2:39570469-39570470	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576992839	chr2:39570480-39570481	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377744859	chr2:39570524-39570525	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370830441	chr2:39570529-39570530	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146901043	chr2:39570587-39570588	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562336754	chr2:39570707-39570708	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368102986	chr2:39570753-39570754	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs3732052	chr2:39570800-39570801	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs547883701	chr2:39570853-39570854	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74924867	chr2:39570915-39570916	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527600711	chr2:39570923-39570924	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569215001	chr2:39570937-39570938	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551928891	chr2:39570967-39570968	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191682380	chr2:39571066-39571067	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532488847	chr2:39571102-39571103	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551099752	chr2:39571170-39571171	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200995799	chr2:39571172-39571173	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184953911	chr2:39571179-39571180	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139340527	chr2:39571181-39571182	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555018068	chr2:39571189-39571190	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567142133	chr2:39571202-39571203	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150041470	chr2:39571228-39571229	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559181975	chr2:39571282-39571283	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557375412	chr2:39571299-39571300	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144365086	chr2:39571301-39571302	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543970306	chr2:39571305-39571306	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556179454	chr2:39571331-39571332	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112014778	chr2:39571353-39571354	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541777939	chr2:39571364-39571365	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556673648	chr2:39571394-39571395	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534630840	chr2:39571420-39571421	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527562645	chr2:39571448-39571449	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142479356	chr2:39571480-39571481	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs57164521	chr2:39571504-39571505	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs531485443	chr2:39571530-39571531	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549718881	chr2:39571615-39571616	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569300338	chr2:39571672-39571673	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530158420	chr2:39571673-39571674	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569568466	chr2:39571692-39571693	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146786376	chr2:39571695-39571696	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566907871	chr2:39571748-39571749	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555188795	chr2:39571753-39571754	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201431958	chr2:39571793-39571794	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190210234	chr2:39571845-39571846	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140540951	chr2:39571857-39571858	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571062085	chr2:39571862-39571863	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:472 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39481000-39580200	Weak transcription	NHEK	skin
2	chr2:39519800-39583000	Weak transcription	Brain Angular Gyrus	brain
3	chr2:39520000-39586200	Weak transcription	Fetal Kidney	kidney
4	chr2:39524000-39583600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:39528800-39581800	Weak transcription	Brain Germinal Matrix	brain
6	chr2:39534000-39586200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:39538800-39572000	Weak transcription	Small Intestine	intestine
8	chr2:39539000-39583800	Weak transcription	Brain Anterior Caudate	brain
9	chr2:39539000-39586400	Weak transcription	Pancreas	Pancrea
10	chr2:39541000-39586400	Weak transcription	Lung	lung
11	chr2:39541400-39582200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:39545400-39585800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:39554000-39571000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr2:39554600-39586400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:39555400-39581200	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:39555400-39581200	Weak transcription	Fetal Stomach	stomach
17	chr2:39555600-39581400	Weak transcription	Fetal Intestine Small	intestine
18	chr2:39555600-39582200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:39556000-39581600	Weak transcription	Placenta	Placenta
20	chr2:39556200-39582400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:39556400-39585000	Weak transcription	Primary B cells from cord blood	blood
22	chr2:39556600-39571200	Weak transcription	A549	lung
23	chr2:39556800-39582200	Weak transcription	Left Ventricle	heart
24	chr2:39557000-39582400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:39557000-39586800	Weak transcription	Aorta	Aorta
26	chr2:39557200-39580800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:39557200-39582600	Weak transcription	Primary T cells from cord blood	blood
28	chr2:39557200-39586000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr2:39557600-39581600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr2:39557800-39581600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:39558400-39583800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:39558600-39584000	Weak transcription	Ovary	ovary
33	chr2:39558800-39576800	Weak transcription	Adipose Nuclei	Adipose
34	chr2:39558800-39578200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:39558800-39586600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr2:39559000-39571000	Weak transcription	NH-A	brain
37	chr2:39559000-39581800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr2:39559000-39586400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:39559200-39571000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:39559400-39573800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:39559600-39586200	Weak transcription	Liver	Liver
42	chr2:39560600-39570800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:39561200-39570800	Weak transcription	NHDF-Ad	bronchial
44	chr2:39561600-39579800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:39561600-39581800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:39562000-39571600	Weak transcription	HSMMtube	muscle
47	chr2:39562000-39581600	Weak transcription	Fetal Intestine Large	intestine
48	chr2:39562200-39584000	Weak transcription	Right Ventricle	heart
49	chr2:39562400-39573800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:39562400-39586600	Weak transcription	NHLF	lung

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