Variant report

Variant	esv3333196
Chromosome Location	chr7:66188566-66188925
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	chr7:66183509..66185499-chr7:66186909..66189328,2	K562	blood:
2	chr7:66188092..66189654-chr7:66204070..66206551,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154710	chromatin interactions
ENSG00000272831	chromatin interactions
ENSG00000243335	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557878013	chr7:66188583-66188584	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs200792697	chr7:66188616-66188617	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs565118033	chr7:66188686-66188687	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs531047264	chr7:66188693-66188694	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs541066351	chr7:66188697-66188698	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs184256314	chr7:66188733-66188734	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs186778041	chr7:66188746-66188747	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs529649444	chr7:66188787-66188788	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs576583772	chr7:66188789-66188790	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs546291307	chr7:66188797-66188798	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs566530738	chr7:66188798-66188799	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs538715495	chr7:66188802-66188803	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs113881117	chr7:66188810-66188811	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs79279976	chr7:66188811-66188812	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs552335582	chr7:66188813-66188814	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs191579026	chr7:66188816-66188817	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs538083955	chr7:66188818-66188819	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs184096019	chr7:66188848-66188849	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs13247442	chr7:66188858-66188859	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs188775536	chr7:66188883-66188884	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
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
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	21346763	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66149000-66199600	Weak transcription	Thymus	Thymus
2	chr7:66149600-66190200	Weak transcription	Hela-S3	cervix
3	chr7:66159600-66190600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:66162400-66189400	Weak transcription	Psoas Muscle	Psoas
5	chr7:66162600-66192400	Weak transcription	NH-A	brain
6	chr7:66162600-66196800	Weak transcription	Right Ventricle	heart
7	chr7:66163000-66190800	Weak transcription	Esophagus	oesophagus
8	chr7:66165200-66189800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr7:66165400-66188600	Weak transcription	Lung	lung
10	chr7:66165400-66204600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:66165800-66197000	Weak transcription	Right Atrium	heart
12	chr7:66173000-66190400	Weak transcription	Fetal Heart	heart
13	chr7:66173200-66190600	Weak transcription	Brain Substantia Nigra	brain
14	chr7:66174200-66190400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr7:66175000-66190800	Weak transcription	Pancreas	Pancrea
16	chr7:66175000-66190800	Weak transcription	Spleen	Spleen
17	chr7:66176400-66204600	Weak transcription	Colonic Mucosa	Colon
18	chr7:66177200-66191200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:66177600-66193600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:66178600-66200400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr7:66178800-66190200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:66178800-66193600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:66178800-66197000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:66179000-66189200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:66179000-66190000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr7:66179000-66190600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr7:66179000-66197200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:66179200-66189800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr7:66179200-66190400	Weak transcription	Brain Hippocampus Middle	brain
30	chr7:66179200-66200600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr7:66179400-66199800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr7:66179600-66204600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr7:66180200-66190200	Weak transcription	NHLF	lung
34	chr7:66180600-66189600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:66180800-66189800	Weak transcription	Colon Smooth Muscle	Colon
36	chr7:66180800-66193600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:66181000-66189600	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr7:66181200-66189600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr7:66181200-66189600	Weak transcription	NHEK	skin
40	chr7:66181600-66189400	Weak transcription	Brain Germinal Matrix	brain
41	chr7:66181600-66193600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr7:66181600-66196000	Weak transcription	Ovary	ovary
43	chr7:66181600-66202000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:66181800-66189600	Weak transcription	HepG2	liver
45	chr7:66182200-66190600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:66182600-66199800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr7:66182800-66190200	Weak transcription	Left Ventricle	heart
48	chr7:66182800-66205000	Weak transcription	Gastric	stomach
49	chr7:66184000-66192200	Weak transcription	Fetal Brain Female	brain
50	chr7:66184200-66188800	Weak transcription	Fetal Muscle Trunk	muscle

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