Variant report

Variant	esv3367869
Chromosome Location	chr7:69390916-69393114
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	chr7:69382134..69383940-chr7:69390397..69392877,2	K562	blood:
2	chr7:69392216..69395197-chr8:71487916..71489899,2	MCF-7	breast:

Extended variants
information (count: 72 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549198773	chr7:69390919-69390920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373702748	chr7:69390946-69390947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545895372	chr7:69390960-69390961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141392568	chr7:69390974-69390975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145120065	chr7:69391008-69391009	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs571633406	chr7:69391053-69391054	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs539046461	chr7:69391085-69391086	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs553930096	chr7:69391107-69391108	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs555044636	chr7:69391136-69391137	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs138918030	chr7:69391176-69391177	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs185761483	chr7:69391199-69391200	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs574897771	chr7:69391200-69391201	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs201102972	chr7:69391202-69391203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562795050	chr7:69391244-69391245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370522607	chr7:69391252-69391253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547938314	chr7:69391261-69391262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148957379	chr7:69391288-69391289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143732067	chr7:69391291-69391292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376458510	chr7:69391293-69391294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115532283	chr7:69391343-69391344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577167502	chr7:69391411-69391412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544995835	chr7:69391415-69391416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202099756	chr7:69391416-69391417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199758193	chr7:69391428-69391429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71097501	chr7:69391431-69391432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs151181858	chr7:69391435-69391436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10677736	chr7:69391478-69391479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs58828344	chr7:69391494-69391495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559980737	chr7:69391540-69391541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543756084	chr7:69391604-69391605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544901006	chr7:69391674-69391675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190956370	chr7:69391882-69391883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542433839	chr7:69392061-69392062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34026190	chr7:69392109-69392110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181992780	chr7:69392141-69392142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371769237	chr7:69392172-69392173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375093178	chr7:69392173-69392174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531552293	chr7:69392189-69392190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564133831	chr7:69392191-69392192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs67558137	chr7:69392192-69392193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187289292	chr7:69392232-69392233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190978695	chr7:69392301-69392302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11762487	chr7:69392302-69392303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs75228896	chr7:69392364-69392365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536783335	chr7:69392385-69392386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200265259	chr7:69392428-69392429	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs548359924	chr7:69392434-69392435	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs74758199	chr7:69392437-69392438	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs537272163	chr7:69392519-69392520	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs558782914	chr7:69392548-69392549	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
Wilms tumour	21544195	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
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
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
Epilepsy	20502679	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69377000-69391000	Weak transcription	Fetal Lung	lung
2	chr7:69377200-69392400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:69377800-69402000	Weak transcription	Ovary	ovary
4	chr7:69379800-69392800	Weak transcription	Fetal Brain Male	brain
5	chr7:69380200-69396000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:69386000-69399400	Weak transcription	Fetal Kidney	kidney
7	chr7:69386200-69392800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr7:69387600-69409400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:69387800-69392400	Weak transcription	Fetal Intestine Small	intestine
10	chr7:69388400-69392600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:69389800-69399600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:69390600-69392200	Weak transcription	Dnd41	blood
13	chr7:69391000-69391200	ZNF genes & repeats	Fetal Lung	lung
14	chr7:69391200-69391400	Enhancers	Colon Smooth Muscle	Colon
15	chr7:69391200-69393400	Weak transcription	Pancreas	Pancrea
16	chr7:69391200-69398600	Weak transcription	Brain Hippocampus Middle	brain
17	chr7:69391200-69399200	Weak transcription	Fetal Lung	lung
18	chr7:69391400-69396200	Weak transcription	Colon Smooth Muscle	Colon
19	chr7:69391600-69399200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:69391800-69392400	Weak transcription	Esophagus	oesophagus
21	chr7:69391800-69394000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:69391800-69399000	Weak transcription	Brain Angular Gyrus	brain
23	chr7:69391800-69417000	Weak transcription	Primary B cells from cord blood	blood
24	chr7:69392400-69392600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:69392400-69392800	ZNF genes & repeats	Esophagus	oesophagus
26	chr7:69392400-69393200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:69392400-69393400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
28	chr7:69392400-69393400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:69392400-69393600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:69392400-69393600	ZNF genes & repeats	Dnd41	blood
31	chr7:69392400-69393800	ZNF genes & repeats	Fetal Intestine Small	intestine
32	chr7:69392400-69393800	ZNF genes & repeats	Fetal Stomach	stomach
33	chr7:69392400-69399400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr7:69392600-69392800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:69392600-69392800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:69392600-69392800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:69392600-69393000	ZNF genes & repeats	Fetal Muscle Leg	muscle
38	chr7:69392600-69393000	Enhancers	Right Ventricle	heart
39	chr7:69392600-69393200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:69392600-69393400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
41	chr7:69392600-69393600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
42	chr7:69392600-69393600	ZNF genes & repeats	Thymus	Thymus
43	chr7:69392600-69393800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
44	chr7:69392600-69393800	ZNF genes & repeats	Fetal Thymus	thymus
45	chr7:69392800-69393200	ZNF genes & repeats	Fetal Brain Male	brain
46	chr7:69392800-69393400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:69392800-69393400	ZNF genes & repeats	Brain Germinal Matrix	brain
48	chr7:69392800-69393400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr7:69392800-69396400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:69392800-69397200	Weak transcription	Esophagus	oesophagus

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