Variant report

Variant	esv3321133
Chromosome Location	chr1:213234167-213234437
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213224479..213226657-chr1:213232974..213235264,3	MCF-7	breast:
2	chr1:213222798..213224539-chr1:213232214..213234723,3	K562	blood:
3	chr1:213228815..213232157-chr1:213233808..213236908,3	K562	blood:
4	chr1:213232021..213235868-chr1:213239449..213242510,4	K562	blood:
5	chr1:213224588..213228373-chr1:213233540..213236741,3	K562	blood:

Variant related genes	Relation type
ENSG00000136643	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 92 )

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	rs188688614	chr1:213234234-213234235	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs367578172	chr1:213234244-213234245	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs549796259	chr1:213234254-213234255	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs561749056	chr1:213234255-213234256	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs192044823	chr1:213234274-213234275	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs183392801	chr1:213234286-213234287	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs187707872	chr1:213234297-213234298	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534082665	chr1:213234308-213234309	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs114161583	chr1:213234343-213234344	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs142838970	chr1:213234357-213234358	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs556351560	chr1:213234372-213234373	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576173368	chr1:213234377-213234378	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs539244622	chr1:213234411-213234412	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs538193929	chr1:213234429-213234430	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	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	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	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
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
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213225200-213253400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:213225200-213254400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:213225400-213254000	Weak transcription	Aorta	Aorta
4	chr1:213225400-213254000	Weak transcription	Left Ventricle	heart
5	chr1:213225400-213256600	Weak transcription	Ovary	ovary
6	chr1:213225600-213236000	Weak transcription	Right Atrium	heart
7	chr1:213225600-213243600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:213225600-213244000	Weak transcription	HSMM	muscle
9	chr1:213225800-213234200	Weak transcription	Primary B cells from cord blood	blood
10	chr1:213225800-213252800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:213225800-213254000	Weak transcription	Primary T cells from cord blood	blood
12	chr1:213226000-213254000	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:213226200-213243800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:213226200-213252800	Weak transcription	Fetal Stomach	stomach
15	chr1:213226800-213237400	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:213227000-213254000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:213227200-213243000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr1:213228000-213254200	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:213228600-213244000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr1:213228800-213238800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:213228800-213239000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:213228800-213263200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:213229400-213239000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:213229400-213254200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:213229400-213283400	Weak transcription	Hela-S3	cervix
26	chr1:213229800-213239200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr1:213230000-213236200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:213230200-213238800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:213230200-213239200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:213230400-213239000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:213231600-213254000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:213231800-213234600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:213232800-213234200	Weak transcription	K562	blood
34	chr1:213232800-213236400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:213232800-213239000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:213232800-213254200	Weak transcription	HepG2	liver
37	chr1:213233000-213262600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:213233200-213239000	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr1:213233400-213239000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:213234000-213234800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr1:213234000-213234800	Enhancers	GM12878-XiMat	blood
42	chr1:213234200-213234600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:213234200-213234600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:213234200-213235000	Strong transcription	Primary B cells from cord blood	blood
45	chr1:213234200-213235000	Enhancers	Fetal Thymus	thymus
46	chr1:213234200-213235000	Enhancers	K562	blood
47	chr1:213234400-213235000	Enhancers	Thymus	Thymus
48	chr1:213234400-213252800	Weak transcription	Fetal Intestine Small	intestine

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