Variant report

Variant	esv16229
Chromosome Location	chr7:66484196-66486746
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	chr7:66486194..66489134-chr7:66492643..66494345,2	MCF-7	breast:
2	chr7:66460373..66463092-chr7:66483549..66485094,2	K562	blood:

Variant related genes	Relation type
ENSG00000126524	chromatin interactions
ENSG00000198874	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190076563	chr7:66484223-66484224	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs182208144	chr7:66484234-66484235	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs58937416	chr7:66484306-66484307	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs552698746	chr7:66484339-66484340	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs566092438	chr7:66484357-66484358	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs538238913	chr7:66484385-66484386	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs558279064	chr7:66484393-66484394	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs536289566	chr7:66484448-66484449	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs563531377	chr7:66484454-66484455	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs574973581	chr7:66484482-66484483	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs56259510	chr7:66484562-66484563	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs569840630	chr7:66484572-66484573	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs149439985	chr7:66484580-66484581	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs574647473	chr7:66484601-66484602	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs185589623	chr7:66484608-66484609	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs144828044	chr7:66484614-66484615	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs528539740	chr7:66484672-66484673	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs370211911	chr7:66484676-66484677	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs3962050	chr7:66484720-66484721	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs545396440	chr7:66484723-66484724	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs565410120	chr7:66484731-66484732	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs531003123	chr7:66484753-66484754	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs550918223	chr7:66484763-66484764	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs117712069	chr7:66484774-66484775	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs3980721	chr7:66484804-66484805	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs577781129	chr7:66484877-66484878	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs540473337	chr7:66484927-66484928	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs3980720	chr7:66484948-66484949	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs3962049	chr7:66484959-66484960	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs530338729	chr7:66484978-66484979	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs3980719	chr7:66484992-66484993	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs553789705	chr7:66485017-66485018	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs3962048	chr7:66485061-66485062	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs3980718	chr7:66485068-66485069	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs3980717	chr7:66485080-66485081	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs546931387	chr7:66485081-66485082	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs368837473	chr7:66485098-66485099	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs566821612	chr7:66485114-66485115	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs538275642	chr7:66485124-66485125	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs558115460	chr7:66485151-66485152	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs548387890	chr7:66485190-66485191	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs370970367	chr7:66485270-66485271	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568632739	chr7:66485316-66485317	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537899061	chr7:66485335-66485336	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148519937	chr7:66485348-66485349	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10950057	chr7:66485401-66485402	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs147234035	chr7:66485416-66485417	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10950058	chr7:66485471-66485472	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs577191505	chr7:66485504-66485505	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376155025	chr7:66485505-66485506	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:215 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66462400-66490000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:66462400-66496000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:66462400-66500200	Weak transcription	Psoas Muscle	Psoas
4	chr7:66462400-66508000	Weak transcription	Stomach Mucosa	stomach
5	chr7:66462600-66484600	Weak transcription	HUVEC	blood vessel
6	chr7:66462600-66487600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:66462600-66497200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr7:66462800-66494600	Weak transcription	Esophagus	oesophagus
9	chr7:66463000-66487200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:66463000-66507800	Weak transcription	Fetal Brain Male	brain
11	chr7:66463200-66484800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:66463200-66487400	Weak transcription	NH-A	brain
13	chr7:66463200-66510000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:66468600-66484400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:66469000-66484400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr7:66470000-66489000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:66470000-66489000	Strong transcription	Fetal Intestine Small	intestine
18	chr7:66470200-66488200	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr7:66470200-66488400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr7:66470200-66488400	Strong transcription	Fetal Stomach	stomach
21	chr7:66470200-66492200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr7:66470400-66484400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:66470400-66488000	Strong transcription	Dnd41	blood
24	chr7:66470400-66489000	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr7:66470400-66495200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr7:66470600-66485400	Strong transcription	Placenta	Placenta
27	chr7:66470600-66492600	Strong transcription	Liver	Liver
28	chr7:66470600-66494800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr7:66472400-66484600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:66472400-66485400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:66472600-66487000	Weak transcription	A549	lung
32	chr7:66472800-66484400	Weak transcription	Hela-S3	cervix
33	chr7:66474000-66492200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:66474600-66484800	Weak transcription	HSMM	muscle
35	chr7:66474600-66484800	Weak transcription	HSMMtube	muscle
36	chr7:66475200-66485600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr7:66476000-66486600	Strong transcription	Left Ventricle	heart
38	chr7:66476600-66487400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr7:66476800-66484800	Weak transcription	NHDF-Ad	bronchial
40	chr7:66476800-66496800	Weak transcription	NHLF	lung
41	chr7:66477000-66484600	Weak transcription	Primary B cells from cord blood	blood
42	chr7:66477000-66495000	Weak transcription	Right Ventricle	heart
43	chr7:66477000-66499000	Weak transcription	Colonic Mucosa	Colon
44	chr7:66478000-66484600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:66478000-66488200	Strong transcription	Fetal Muscle Trunk	muscle
46	chr7:66478000-66488400	Strong transcription	Fetal Intestine Large	intestine
47	chr7:66478200-66484200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:66478200-66485000	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr7:66478400-66488000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr7:66478400-66488000	Strong transcription	Fetal Muscle Leg	muscle

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