Variant report

Variant	nsv1029966
Chromosome Location	chr7:21999316-22028266
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:21983956..21986836-chr7:21999443..22000973,2	MCF-7	breast:
2	chr7:21998887..22000883-chr7:22002503..22005145,2	K562	blood:
3	chr7:21998887..22000883-chr7:22002503..22005145,2	K562	blood:

Variant related genes	Relation type
ENSG00000164649	chromatin interactions

Extended variants
information (count: 1043 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:1043 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115956924	chr7:21999348-21999349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533527405	chr7:21999363-21999364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374169539	chr7:21999367-21999368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184632713	chr7:21999374-21999375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529239163	chr7:21999388-21999389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188307695	chr7:21999431-21999432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs193036103	chr7:21999437-21999438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549074839	chr7:21999452-21999453	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs371411056	chr7:21999511-21999512	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs13227336	chr7:21999512-21999513	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs536453750	chr7:21999515-21999516	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs59725209	chr7:21999516-21999517	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs576292849	chr7:21999520-21999521	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs145371353	chr7:21999521-21999522	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs558758182	chr7:21999529-21999530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs13227568	chr7:21999682-21999683	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs13227569	chr7:21999685-21999686	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs528682599	chr7:21999730-21999731	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs189663644	chr7:21999734-21999735	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs1174948	chr7:21999738-21999739	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs537382355	chr7:21999763-21999764	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs551251753	chr7:21999764-21999765	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs371129540	chr7:21999845-21999846	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561633166	chr7:21999885-21999886	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs530375543	chr7:21999886-21999887	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs567156079	chr7:21999921-21999922	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs543698395	chr7:21999935-21999936	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs563574738	chr7:21999991-21999992	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs142959897	chr7:22000045-22000046	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs551476804	chr7:22000129-22000130	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs571219413	chr7:22000131-22000132	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs527290006	chr7:22000143-22000144	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs75261313	chr7:22000144-22000145	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs74574096	chr7:22000148-22000149	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs536587843	chr7:22000157-22000158	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs556479262	chr7:22000169-22000170	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs7807005	chr7:22000175-22000176	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs73268713	chr7:22000206-22000207	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs575024672	chr7:22000236-22000237	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs559022459	chr7:22000269-22000270	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs572949960	chr7:22000273-22000274	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs150678927	chr7:22000295-22000296	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs180874479	chr7:22000366-22000367	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs574476609	chr7:22000413-22000414	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs183588375	chr7:22000415-22000416	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs6461625	chr7:22000425-22000426	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs532583730	chr7:22000427-22000428	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs34448845	chr7:22000455-22000456	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs10583129	chr7:22000456-22000457	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs35602567	chr7:22000457-22000458	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21998600-21999400	Enhancers	Primary B cells from peripheral blood	blood
2	chr7:21999400-22002800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr7:21999800-22000200	Enhancers	A549	lung
4	chr7:21999800-22001200	Enhancers	HUVEC	blood vessel
5	chr7:21999800-22002200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:22000000-22001000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:22000000-22001000	Enhancers	HMEC	breast
8	chr7:22000000-22001000	Enhancers	NH-A	brain
9	chr7:22000000-22001000	Enhancers	Osteobl	bone
10	chr7:22000000-22001600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:22000200-22000400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:22000200-22000800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:22000200-22000800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:22000200-22000800	Enhancers	Hela-S3	cervix
15	chr7:22000200-22001000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:22000200-22001000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:22000200-22001000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:22000200-22001000	Enhancers	HSMM	muscle
19	chr7:22000200-22001000	Enhancers	NHEK	skin
20	chr7:22000200-22001000	Enhancers	NHLF	lung
21	chr7:22000200-22001200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:22000200-22002400	Weak transcription	A549	lung
23	chr7:22000400-22003400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:22000600-22001000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:22002400-22003000	Enhancers	A549	lung
26	chr7:22002800-22003600	Enhancers	Primary B cells from peripheral blood	blood
27	chr7:22003200-22003400	Enhancers	GM12878-XiMat	blood
28	chr7:22003200-22008600	Enhancers	Primary B cells from cord blood	blood
29	chr7:22003400-22005800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:22003600-22004000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr7:22003600-22004400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr7:22003800-22005000	Weak transcription	GM12878-XiMat	blood
33	chr7:22004000-22005600	Enhancers	Stomach Smooth Muscle	stomach
34	chr7:22004000-22005800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:22004000-22009200	Enhancers	Primary B cells from peripheral blood	blood
36	chr7:22004400-22005600	Enhancers	Colon Smooth Muscle	Colon
37	chr7:22004400-22005800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr7:22004400-22005800	Enhancers	Fetal Stomach	stomach
39	chr7:22004400-22008000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr7:22004600-22005400	Enhancers	Rectal Smooth Muscle	rectum
41	chr7:22004600-22007800	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr7:22004800-22008600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:22005000-22005800	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr7:22005000-22007000	Enhancers	GM12878-XiMat	blood
45	chr7:22005000-22007200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:22005000-22008400	Enhancers	Primary hematopoietic stem cells	blood
47	chr7:22005400-22005600	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr7:22005600-22006000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr7:22005600-22006200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr7:22005800-22007000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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