Variant report

Variant	esv3368654
Chromosome Location	chr7:64457796-64457960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:64443801..64446624-chr7:64455450..64458342,2	K562	blood:
2	chr7:64415881..64418431-chr7:64455784..64458339,2	K562	blood:
3	chr7:64457395..64459217-chr7:64460066..64463149,3	MCF-7	breast:
4	chr7:64456225..64458707-chr7:64461736..64463690,4	MCF-7	breast:
5	chr7:64444227..64448944-chr7:64454990..64458661,5	K562	blood:
6	chr7:64453338..64456420-chr7:64456552..64459818,7	K562	blood:
7	chr7:64362042..64365013-chr7:64457372..64461307,3	K562	blood:
8	chr7:64434545..64437511-chr7:64457561..64459836,2	MCF-7	breast:
9	chr7:64448511..64452779-chr7:64455482..64461514,7	K562	blood:
10	chr7:64452604..64455149-chr7:64456846..64459558,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000152926	chromatin interactions
ENSG00000198039	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201399180	chr7:64457805-64457806	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs62456481	chr7:64457818-64457819	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs7803418	chr7:64457835-64457836	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs561131678	chr7:64457864-64457865	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs529872422	chr7:64457879-64457880	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs368656306	chr7:64457894-64457895	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs187763957	chr7:64457935-64457936	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs559983914	chr7:64457943-64457944	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs191237392	chr7:64457944-64457945	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs557258468	chr7:64457952-64457953	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs532297737	chr7:64457956-64457957	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Glioblastoma	21080181	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD
Williams Syndrome	20824207	CNVD
Cognitive impairment	21505072	CNVD
Schizophrenia	20967226	CNVD
Cancer	21272361	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64433400-64465600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:64438600-64465200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:64441800-64459400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:64441800-64465000	Weak transcription	Brain Angular Gyrus	brain
5	chr7:64446000-64460000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
6	chr7:64448800-64461200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:64449000-64465200	ZNF genes & repeats	Fetal Brain Female	brain
8	chr7:64450000-64464000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
9	chr7:64450200-64460000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:64450200-64460000	ZNF genes & repeats	Primary B cells from cord blood	blood
11	chr7:64450200-64460000	ZNF genes & repeats	Fetal Intestine Small	intestine
12	chr7:64450200-64462400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:64450200-64462400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr7:64450200-64462600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:64450200-64465400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:64450400-64460000	ZNF genes & repeats	Placenta	Placenta
17	chr7:64450400-64460200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
18	chr7:64450400-64464000	ZNF genes & repeats	Brain Germinal Matrix	brain
19	chr7:64450400-64464400	ZNF genes & repeats	Dnd41	blood
20	chr7:64450600-64460000	ZNF genes & repeats	Fetal Stomach	stomach
21	chr7:64450600-64462400	ZNF genes & repeats	Fetal Muscle Leg	muscle
22	chr7:64451200-64465400	Weak transcription	Brain Substantia Nigra	brain
23	chr7:64452000-64464600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:64453600-64457800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:64453800-64457800	Weak transcription	HSMMtube	muscle
26	chr7:64453800-64459000	Weak transcription	Brain Hippocampus Middle	brain
27	chr7:64453800-64459200	Weak transcription	Gastric	stomach
28	chr7:64453800-64465200	Weak transcription	Brain Anterior Caudate	brain
29	chr7:64453800-64465400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr7:64453800-64465400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr7:64454000-64457800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr7:64454000-64459200	Weak transcription	Ovary	ovary
33	chr7:64454000-64459200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr7:64454400-64458400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:64455200-64458000	Enhancers	Adipose Nuclei	Adipose
36	chr7:64455200-64462400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:64455600-64459200	ZNF genes & repeats	K562	blood
38	chr7:64456200-64459000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:64456600-64460000	ZNF genes & repeats	Fetal Brain Male	brain
40	chr7:64456800-64464600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:64457000-64458200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:64457200-64458000	Enhancers	Right Ventricle	heart
43	chr7:64457200-64459200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:64457200-64459600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
45	chr7:64457200-64460000	ZNF genes & repeats	Lung	lung
46	chr7:64457400-64457800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr7:64457400-64458000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
48	chr7:64457400-64458200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
49	chr7:64457400-64458400	Enhancers	Fetal Heart	heart
50	chr7:64457400-64458600	ZNF genes & repeats	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links