Variant report

Variant	esv3440792
Chromosome Location	chr7:64261224-64261467
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	chr7:64252597..64259122-chr7:64259592..64265160,8	MCF-7	breast:
2	chr7:64253641..64257580-chr7:64258986..64262428,5	K562	blood:

Variant related genes	Relation type
ENSG00000197008	chromatin interactions

Extended variants
information (count: 10 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552883189	chr7:64261280-64261281	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs62456798	chr7:64261296-64261297	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs538213670	chr7:64261309-64261310	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs544842581	chr7:64261311-64261312	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs6956129	chr7:64261347-64261348	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs568500770	chr7:64261362-64261363	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs386713938	chr7:64261369-64261370	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs115189294	chr7:64261371-64261372	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs370656201	chr7:64261377-64261378	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs150030544	chr7:64261439-64261440	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64255400-64277200	Weak transcription	Aorta	Aorta
2	chr7:64255600-64262000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:64255600-64266400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:64255800-64262400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:64255800-64268400	Weak transcription	Right Ventricle	heart
6	chr7:64255800-64272600	Weak transcription	NHLF	lung
7	chr7:64255800-64278800	Weak transcription	Placenta	Placenta
8	chr7:64255800-64293200	Weak transcription	NH-A	brain
9	chr7:64255800-64293400	Weak transcription	Psoas Muscle	Psoas
10	chr7:64256000-64264000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:64256000-64285200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:64256000-64294400	Weak transcription	Fetal Kidney	kidney
13	chr7:64256400-64261400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:64256400-64262000	Weak transcription	Stomach Mucosa	stomach
15	chr7:64256400-64262600	Weak transcription	Brain Hippocampus Middle	brain
16	chr7:64256400-64263800	Weak transcription	Colon Smooth Muscle	Colon
17	chr7:64256400-64276800	Weak transcription	HMEC	breast
18	chr7:64256600-64262000	Weak transcription	Fetal Lung	lung
19	chr7:64256600-64262200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:64256600-64262200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr7:64256600-64262600	Weak transcription	Fetal Brain Female	brain
22	chr7:64256600-64263200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:64256600-64266000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:64256600-64266000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:64256600-64268200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr7:64256800-64261800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:64256800-64263800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:64256800-64264800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:64256800-64266400	Weak transcription	Fetal Brain Male	brain
30	chr7:64256800-64269600	Weak transcription	Gastric	stomach
31	chr7:64256800-64277200	Weak transcription	Esophagus	oesophagus
32	chr7:64256800-64277200	Weak transcription	Small Intestine	intestine
33	chr7:64256800-64278800	Weak transcription	Spleen	Spleen
34	chr7:64256800-64283800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr7:64256800-64283800	Weak transcription	Pancreas	Pancrea
36	chr7:64256800-64286200	Weak transcription	Brain Substantia Nigra	brain
37	chr7:64256800-64292200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr7:64257000-64264200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr7:64257400-64263400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:64257400-64265800	Strong transcription	Primary B cells from cord blood	blood
41	chr7:64257400-64283600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr7:64257600-64263400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:64257800-64266800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:64258200-64261600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:64258200-64262000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:64258600-64262600	ZNF genes & repeats	GM12878-XiMat	blood
47	chr7:64258600-64263400	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr7:64258800-64263800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr7:64259000-64262000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr7:64259000-64263400	Strong transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links