Variant report

Variant	esv3368197
Chromosome Location	chr1:247207143-247207526
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:247206996..247209736-chr1:247240234..247243188,3	K562	blood:
2	chr1:247206172..247208094-chr1:247211447..247213076,2	K562	blood:

Variant related genes	Relation type
ENSG00000135747	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 76 )

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	rs12123948	chr1:247207155-247207156	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572979748	chr1:247207162-247207163	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs188050180	chr1:247207242-247207243	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs140364665	chr1:247207280-247207281	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs142073264	chr1:247207282-247207283	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs12116484	chr1:247207285-247207286	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs576880982	chr1:247207291-247207292	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs538374164	chr1:247207300-247207301	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs55920007	chr1:247207400-247207401	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs543222053	chr1:247207421-247207422	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs193078059	chr1:247207422-247207423	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs562508250	chr1:247207423-247207424	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs529029951	chr1:247207461-247207462	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs548794010	chr1:247207521-247207522	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	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
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
abnormal development	18461090	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247196400-247210200	ZNF genes & repeats	Fetal Brain Female	brain
2	chr1:247196600-247219400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr1:247196800-247210800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
4	chr1:247196800-247211600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:247197000-247207200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:247197000-247210800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:247197000-247210800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr1:247197200-247207600	ZNF genes & repeats	Dnd41	blood
9	chr1:247197400-247210800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr1:247198000-247207200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:247201600-247209000	Weak transcription	Gastric	stomach
12	chr1:247201600-247218400	Weak transcription	Right Ventricle	heart
13	chr1:247201800-247208600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:247202200-247207800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:247203000-247209600	Weak transcription	Left Ventricle	heart
16	chr1:247204400-247207400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:247204800-247209200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr1:247205200-247208600	Weak transcription	HSMMtube	muscle
19	chr1:247205400-247207200	ZNF genes & repeats	Aorta	Aorta
20	chr1:247205600-247207200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:247206000-247211600	ZNF genes & repeats	Liver	Liver
22	chr1:247206400-247207200	ZNF genes & repeats	Fetal Lung	lung
23	chr1:247206600-247208400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:247206800-247207200	ZNF genes & repeats	Ovary	ovary
25	chr1:247207000-247207200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:247207000-247207200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
27	chr1:247207200-247207400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:247207200-247209600	Weak transcription	Ovary	ovary
29	chr1:247207400-247208600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:247207400-247210800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links