Variant report

Variant	esv2560233
Chromosome Location	chr1:217312569-217312569
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	CTBP2	chr1:217311496-217312676	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:217311387-217313261	H1-neurons	neurons:	n/a	n/a
3	SUZ12	chr1:217309428-217313094	H1-hESC	embryonic stem cell:	n/a	n/a
4	SUZ12	chr1:217307066-217313271	NT2-D1	testis:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:217308030..217310144-chr1:217311163..217313790,2	MCF-7	breast:
2	chr1:217311976..217314907-chr1:217319601..217322587,2	MCF-7	breast:

Variant related genes	Relation type
ESRRG	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 93 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200036672	chr1:217312569-217312570	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217307200-217314200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:217307200-217314200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr1:217307400-217314200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr1:217309800-217312600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:217309800-217313800	Bivalent Enhancer	Fetal Brain Male	brain
6	chr1:217310000-217313000	Weak transcription	Right Atrium	heart
7	chr1:217311200-217313000	Weak transcription	Right Ventricle	heart
8	chr1:217311400-217312800	Bivalent Enhancer	Liver	Liver
9	chr1:217311400-217313200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
10	chr1:217311800-217312600	Weak transcription	Pancreas	Pancrea
11	chr1:217311800-217312800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
12	chr1:217311800-217312800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
13	chr1:217311800-217313000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:217311800-217313000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:217311800-217313200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr1:217312000-217312600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
17	chr1:217312000-217312600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
18	chr1:217312000-217312600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
19	chr1:217312000-217312600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:217312000-217312600	Bivalent/Poised TSS	NHEK	skin
21	chr1:217312000-217312800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:217312000-217312800	Enhancers	Brain Anterior Caudate	brain
23	chr1:217312000-217312800	Bivalent Enhancer	Fetal Kidney	kidney
24	chr1:217312000-217313000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:217312000-217313200	Bivalent Enhancer	Fetal Intestine Large	intestine
26	chr1:217312000-217313400	Bivalent Enhancer	Fetal Lung	lung
27	chr1:217312000-217313600	Bivalent Enhancer	Adipose Nuclei	Adipose
28	chr1:217312200-217312600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:217312200-217312800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:217312200-217312800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
31	chr1:217312400-217312600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
32	chr1:217312400-217312600	Bivalent Enhancer	Lung	lung
33	chr1:217312400-217312600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
34	chr1:217312400-217312800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:217312400-217312800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:217312400-217313600	Enhancers	Fetal Heart	heart
37	chr1:217312400-217313800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:217312400-217314000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links