Variant report

Variant	esv3459699
Chromosome Location	chr2:98385308-98385725
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:98385374-98385634	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr2:98385390-98385617	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr2:98385386-98385596	H1-hESC	embryonic stem cell:	n/a	n/a
4	TCF12	chr2:98385366-98385654	H1-hESC	embryonic stem cell:	n/a	chr2:98385405-98385413
5	TCF12	chr2:98385335-98385691	H1-hESC	embryonic stem cell:	n/a	chr2:98385405-98385413

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98375149..98376830-chr2:98384881..98387023,2	MCF-7	breast:
2	chr2:98378430..98380817-chr2:98383033..98385975,2	MCF-7	breast:

Variant related genes	Relation type
TMEM131	TF binding region
ENSG00000075568	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372702545	chr2:98385312-98385313	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs572583828	chr2:98385329-98385330	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs573586614	chr2:98385335-98385336	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs112177933	chr2:98385381-98385382	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs534282775	chr2:98385426-98385427	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs564410632	chr2:98385446-98385447	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs375847626	chr2:98385473-98385474	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs543370549	chr2:98385480-98385481	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs563804241	chr2:98385573-98385574	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs560673318	chr2:98385586-98385587	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs529411318	chr2:98385696-98385697	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs549444142	chr2:98385697-98385698	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs199564069	chr2:98385703-98385704	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553249200	chr2:98385711-98385712	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Medulloblastoma	20607354	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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98352200-98398800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:98366200-98400000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:98368000-98393800	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr2:98368600-98413000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:98369600-98398800	Strong transcription	Fetal Muscle Leg	muscle
6	chr2:98370200-98392600	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:98370400-98386400	Strong transcription	Fetal Intestine Small	intestine
8	chr2:98370600-98392400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:98370600-98393800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:98370600-98407600	Weak transcription	HUVEC	blood vessel
11	chr2:98371200-98387400	Strong transcription	Liver	Liver
12	chr2:98371200-98398600	Strong transcription	Primary B cells from cord blood	blood
13	chr2:98373800-98390400	Weak transcription	K562	blood
14	chr2:98375800-98386600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:98377200-98394400	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr2:98377400-98408000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:98377400-98410600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:98378200-98389600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:98378600-98421400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:98379800-98385800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:98380800-98393800	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:98381400-98397600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:98382000-98385600	Enhancers	Right Ventricle	heart
24	chr2:98382000-98388800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:98382200-98386200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:98382600-98388600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:98382600-98389600	Weak transcription	Gastric	stomach
28	chr2:98382600-98391600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:98382800-98386200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr2:98382800-98386200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:98382800-98386200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:98382800-98387400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:98382800-98387600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr2:98382800-98387600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:98382800-98387600	Weak transcription	NHDF-Ad	bronchial
36	chr2:98382800-98388400	Weak transcription	NH-A	brain
37	chr2:98382800-98389000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:98382800-98389000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:98382800-98389400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr2:98382800-98398600	Weak transcription	Small Intestine	intestine
41	chr2:98382800-98419800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr2:98383000-98385400	Weak transcription	Fetal Lung	lung
43	chr2:98383000-98386400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:98383000-98386800	Enhancers	Fetal Heart	heart
45	chr2:98383000-98387400	Weak transcription	Brain Germinal Matrix	brain
46	chr2:98383000-98387400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr2:98383000-98387400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:98383000-98387800	Weak transcription	Osteobl	bone
49	chr2:98383000-98388000	Weak transcription	Brain Anterior Caudate	brain
50	chr2:98383000-98388200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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