Variant report

Variant	esv3369917
Chromosome Location	chr2:127434994-127435118
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	BCL3	chr2:127434513-127435247	GM12878	blood:	n/a	n/a
2	BCL3	chr2:127434589-127435177	GM12878	blood:	n/a	n/a
3	NFATC1	chr2:127434497-127435296	GM12878	blood:	n/a	n/a
4	NFATC1	chr2:127434562-127435133	GM12878	blood:	n/a	n/a
5	PBX3	chr2:127434631-127435180	GM12878	blood:	n/a	n/a
6	POLR2A	chr2:127434493-127435314	GM12892	blood:	n/a	n/a
7	POLR2A	chr2:127434583-127435241	GM12878	blood:	n/a	n/a
8	POLR2A	chr2:127433120-127435557	K562	blood:	n/a	n/a
9	STAT5A	chr2:127434753-127435183	GM12878	blood:	n/a	n/a
10	STAT5A	chr2:127434606-127435414	GM12878	blood:	n/a	n/a
11	USF2	chr2:127434975-127435037	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127434549..127436811-chr2:127437779..127440229,2	K562	blood:
2	chr2:127433698..127435508-chr2:127441094..127442678,2	K562	blood:

Variant related genes	Relation type
ENSG00000235128	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375961807	chr2:127435003-127435004	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs113073890	chr2:127435008-127435009	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs545494882	chr2:127435009-127435010	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs565347091	chr2:127435012-127435013	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs72008743	chr2:127435017-127435018	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs556439764	chr2:127435018-127435019	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs541843380	chr2:127435029-127435030	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs369950262	chr2:127435030-127435031	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs201687114	chr2:127435041-127435042	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs139303126	chr2:127435050-127435051	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs189104533	chr2:127435057-127435058	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs201289484	chr2:127435067-127435068	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs112964089	chr2:127435068-127435069	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs67361838	chr2:127435069-127435070	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs386355211	chr2:127435076-127435077	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs386650139	chr2:127435077-127435078	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs146057574	chr2:127435083-127435084	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs435911	chr2:127435098-127435099	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs551111814	chr2:127435100-127435101	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	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
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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127417200-127443600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:127422200-127453400	Weak transcription	Colonic Mucosa	Colon
3	chr2:127424200-127451000	Weak transcription	NHLF	lung
4	chr2:127424600-127447600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:127428000-127446400	Weak transcription	NHDF-Ad	bronchial
6	chr2:127429000-127442000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:127430400-127436000	Weak transcription	Right Atrium	heart
8	chr2:127430800-127444000	Weak transcription	Psoas Muscle	Psoas
9	chr2:127431600-127436000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:127432200-127441400	Weak transcription	Fetal Heart	heart
11	chr2:127432800-127435200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr2:127432800-127443400	Weak transcription	Thymus	Thymus
13	chr2:127433200-127436000	Weak transcription	Aorta	Aorta
14	chr2:127433200-127436000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:127433400-127439400	Weak transcription	Left Ventricle	heart
16	chr2:127433600-127435400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr2:127433600-127437400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr2:127433600-127451400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:127433800-127435200	Genic enhancers	Primary T cells from cord blood	blood
20	chr2:127433800-127435800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:127433800-127436000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:127433800-127436600	Weak transcription	Fetal Thymus	thymus
23	chr2:127433800-127437400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:127433800-127438200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:127433800-127441000	Weak transcription	GM12878-XiMat	blood
26	chr2:127433800-127452600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr2:127434000-127435200	Strong transcription	Primary B cells from cord blood	blood
28	chr2:127434000-127435400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr2:127434000-127436000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr2:127434000-127436000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:127434000-127436000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:127434000-127436400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr2:127434000-127441200	Weak transcription	Fetal Lung	lung
34	chr2:127434000-127446200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr2:127434000-127451000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:127434000-127451000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:127434200-127435000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:127434200-127435000	Enhancers	Spleen	Spleen
39	chr2:127434200-127435200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:127434200-127435200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr2:127434200-127435200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:127434200-127436200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr2:127434200-127436800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:127434200-127437800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr2:127434200-127457200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr2:127434400-127435200	Enhancers	Adipose Nuclei	Adipose
47	chr2:127434400-127435200	Enhancers	Lung	lung
48	chr2:127434400-127445400	Strong transcription	Fetal Stomach	stomach
49	chr2:127434600-127435000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr2:127434600-127435000	Enhancers	Ovary	ovary

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