Variant report

Variant	nsv508461
Chromosome Location	chr7:70364308-70443302
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	chr7:70419574..70421906-chr7:70424022..70425559,2	K562	blood:
2	chr7:70419574..70421906-chr7:70424022..70425559,2	K562	blood:

Extended variants
information (count: 2056 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2056 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578138217	chr7:70364321-70364322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142712986	chr7:70364357-70364358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147348231	chr7:70364399-70364400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564072403	chr7:70364401-70364402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138587549	chr7:70364489-70364490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549376316	chr7:70364582-70364583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142007861	chr7:70364592-70364593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372703865	chr7:70364627-70364628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531912198	chr7:70364644-70364645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375218898	chr7:70364675-70364676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34275115	chr7:70364676-70364677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549949832	chr7:70364680-70364681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182360370	chr7:70364763-70364764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186586175	chr7:70364774-70364775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528033263	chr7:70364790-70364791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566570089	chr7:70364874-70364875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533519141	chr7:70364887-70364888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191837486	chr7:70364900-70364901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184057058	chr7:70364901-70364902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12670247	chr7:70364908-70364909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs139840601	chr7:70364909-70364910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545755875	chr7:70364910-70364911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559532594	chr7:70364922-70364923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577718564	chr7:70364923-70364924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189460867	chr7:70364952-70364953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193157722	chr7:70364953-70364954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572526391	chr7:70364994-70364995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149803067	chr7:70365025-70365026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560984748	chr7:70365044-70365045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531877036	chr7:70365087-70365088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550104821	chr7:70365169-70365170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10950223	chr7:70365243-70365244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs532558633	chr7:70365292-70365293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547986781	chr7:70365329-70365330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566417542	chr7:70365331-70365332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376960847	chr7:70365341-70365342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568113308	chr7:70365378-70365379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185015075	chr7:70365412-70365413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548984564	chr7:70365443-70365444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530526778	chr7:70365453-70365454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7777301	chr7:70365589-70365590	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs537843187	chr7:70365591-70365592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571180512	chr7:70365621-70365622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146325331	chr7:70365725-70365726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7803364	chr7:70365746-70365747	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs139601219	chr7:70365786-70365787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73704880	chr7:70365801-70365802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs7799808	chr7:70365865-70365866	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs577209122	chr7:70365924-70365925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11978563	chr7:70366019-70366020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Williams Syndrome	20824207	CNVD
Dyslexia	22102821	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70362200-70372600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:70368800-70369200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr7:70368800-70369200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:70368800-70369400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:70368800-70369400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr7:70368800-70369400	Enhancers	GM12878-XiMat	blood
7	chr7:70368800-70369600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:70369000-70369200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:70369000-70369400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:70369000-70372400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:70369200-70371600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:70369200-70372400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:70369200-70372400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:70369400-70372400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:70370000-70372800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:70370200-70370400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:70370400-70372800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:70371600-70372800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:70371800-70372000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:70372400-70372600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr7:70372400-70372800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:70372400-70373000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr7:70372400-70373000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr7:70372400-70373000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr7:70372400-70373200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:70372400-70373200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr7:70372400-70373400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr7:70372600-70373000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
29	chr7:70372600-70373200	Enhancers	H9 Cell Line	embryonic stem cell
30	chr7:70372600-70373200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr7:70372600-70373200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:70372600-70373200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:70372600-70373200	Enhancers	Fetal Muscle Leg	muscle
34	chr7:70372800-70373000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:70372800-70373000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:70372800-70373000	Enhancers	Ovary	ovary
37	chr7:70372800-70373200	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr7:70372800-70373200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:70373000-70373200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr7:70373000-70373800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr7:70373000-70374600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr7:70373200-70373800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr7:70373200-70374200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr7:70373200-70376000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr7:70373200-70376200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:70373200-70400200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:70373400-70374600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr7:70373800-70374000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr7:70373800-70374000	Enhancers	H9 Cell Line	embryonic stem cell
50	chr7:70374000-70374800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links