Variant report

Variant	nsv464555
Chromosome Location	chr7:70336118-70371194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1443 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1443 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6967550	chr7:70336118-70336119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs13224965	chr7:70336157-70336158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs556146530	chr7:70336219-70336220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28568295	chr7:70336287-70336288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs186215699	chr7:70336335-70336336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76065940	chr7:70336341-70336342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561629127	chr7:70336343-70336344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7804435	chr7:70336365-70336366	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs201417358	chr7:70336381-70336382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201995663	chr7:70336382-70336383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7800730	chr7:70336391-70336392	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs541780833	chr7:70336392-70336393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62457763	chr7:70336394-70336395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140302885	chr7:70336397-70336398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146117658	chr7:70336408-70336409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575131004	chr7:70336411-70336412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545872984	chr7:70336457-70336458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564288993	chr7:70336458-70336459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528469409	chr7:70336472-70336473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112920011	chr7:70336544-70336545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534938744	chr7:70336554-70336555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371954354	chr7:70336563-70336564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561944403	chr7:70336591-70336592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553543851	chr7:70336592-70336593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551326768	chr7:70336605-70336606	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs12539276	chr7:70336615-70336616	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs12536594	chr7:70336622-70336623	Weak transcription Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs114426174	chr7:70336623-70336624	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs376982231	chr7:70336629-70336630	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs374155870	chr7:70336693-70336694	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs111458460	chr7:70336740-70336741	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs566177162	chr7:70336777-70336778	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs112360904	chr7:70336791-70336792	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs138868082	chr7:70336792-70336793	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs74945467	chr7:70336803-70336804	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs71549381	chr7:70336816-70336817	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs140371000	chr7:70336857-70336858	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs145085585	chr7:70336867-70336868	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs368874736	chr7:70336869-70336870	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs376421103	chr7:70336873-70336874	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs372754585	chr7:70336883-70336884	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs201731447	chr7:70336890-70336891	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs200055003	chr7:70336894-70336895	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs145681972	chr7:70336896-70336897	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs149410104	chr7:70336900-70336901	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs139499200	chr7:70336902-70336903	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs148518948	chr7:70336906-70336907	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs71077694	chr7:70336921-70336922	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs201866418	chr7:70336922-70336923	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs552904192	chr7:70336965-70336966	Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70335800-70349000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:70336600-70337000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
3	chr7:70337400-70338000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr7:70337800-70338400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr7:70346600-70347200	Enhancers	Fetal Stomach	stomach
6	chr7:70348800-70352000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:70349000-70350000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:70349000-70350000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr7:70349000-70350000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:70349000-70350200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr7:70349000-70350800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:70349000-70350800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:70349000-70351600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:70349000-70352400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:70349000-70352400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:70349000-70352600	Enhancers	H9 Cell Line	embryonic stem cell
17	chr7:70349000-70352600	Enhancers	Fetal Intestine Large	intestine
18	chr7:70349000-70352800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr7:70349200-70349400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:70349200-70350200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:70349200-70352600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:70349400-70352000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:70350000-70352000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:70350000-70352200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:70350200-70351200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr7:70350800-70352200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:70350800-70358000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:70351000-70351200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:70351200-70352000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:70351200-70352200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr7:70351200-70352600	Enhancers	Placenta Amnion	Placenta Amnion
32	chr7:70351600-70352000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr7:70351600-70352400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:70351800-70352400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr7:70352000-70352400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:70352000-70352600	Enhancers	H1 Cell Line	embryonic stem cell
37	chr7:70352000-70352800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr7:70352200-70352400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr7:70352200-70352600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr7:70352200-70352600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:70352200-70353400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
42	chr7:70352400-70355600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr7:70352600-70354200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:70353800-70355000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:70355400-70355800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr7:70355400-70355800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:70355600-70356000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr7:70355800-70358000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr7:70355800-70358000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:70356000-70359200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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