Variant report

Variant	nsv464547
Chromosome Location	chr7:70321643-70364102
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:70321614..70322798-chr7:71200589..71201582,5	MCF-7	breast:
2	chr7:70321684..70322394-chr7:70659915..70660431,2	MCF-7	breast:
3	chr7:70321651..70322570-chr7:71197952..71198877,7	K562	blood:
4	chr7:70321617..70322562-chr7:70976561..70977221,2	MCF-7	breast:
5	chr7:70321514..70322440-chr7:71198003..71198947,6	MCF-7	breast:
6	chr7:70321665..70322892-chr7:71197945..71198934,7	MCF-7	breast:
7	chr7:70321682..70322568-chr7:71200885..71201597,2	K562	blood:
8	chr7:70294046..70294810-chr7:70321629..70322145,2	MCF-7	breast:

No data

Extended variants
information (count: 1428 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1428 , 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	rs1527588	chr7:70321643-70321644	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183765897	chr7:70321702-70321703	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs9654898	chr7:70321709-70321710	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs543155432	chr7:70321710-70321711	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs1527587	chr7:70321713-70321714	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs531752302	chr7:70321720-70321721	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs147716742	chr7:70321747-70321748	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs142484655	chr7:70321787-70321788	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs2866841	chr7:70321834-70321835	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs553416473	chr7:70321839-70321840	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs2866840	chr7:70321842-70321843	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566149654	chr7:70321874-70321875	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs559175958	chr7:70321913-70321914	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs150207242	chr7:70321953-70321954	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs548687826	chr7:70321982-70321983	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs566890220	chr7:70322059-70322060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537485247	chr7:70322107-70322108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574402860	chr7:70322108-70322109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556164216	chr7:70322113-70322114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577917982	chr7:70322137-70322138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs56191526	chr7:70322170-70322171	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs145714043	chr7:70322211-70322212	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs563106456	chr7:70322233-70322234	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs4719014	chr7:70322243-70322244	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs118009422	chr7:70322254-70322255	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs555134534	chr7:70322263-70322264	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs77317542	chr7:70322321-70322322	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs576483967	chr7:70322327-70322328	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs117747480	chr7:70322365-70322366	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs565428756	chr7:70322566-70322567	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs140124351	chr7:70322574-70322575	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs377456880	chr7:70322588-70322589	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs532797422	chr7:70322644-70322645	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs186644593	chr7:70322665-70322666	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs377493257	chr7:70322668-70322669	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs1358356	chr7:70322671-70322672	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs530244987	chr7:70322699-70322700	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs143198560	chr7:70322761-70322762	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs567053647	chr7:70322775-70322776	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs113718561	chr7:70322793-70322794	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs531205530	chr7:70322808-70322809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138775073	chr7:70322845-70322846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191797992	chr7:70322860-70322861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184824790	chr7:70322863-70322864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73704864	chr7:70322879-70322880	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs76540214	chr7:70322930-70322931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs56936898	chr7:70322946-70322947	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs145502641	chr7:70322961-70322962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530866257	chr7:70322964-70322965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576649800	chr7:70323059-70323060	Weak transcription Enhancers	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:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70320600-70321800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:70321200-70323600	Enhancers	H9 Cell Line	embryonic stem cell
3	chr7:70321400-70322000	Enhancers	Fetal Muscle Trunk	muscle
4	chr7:70321400-70322200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr7:70321400-70322800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:70321400-70325000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:70321600-70322000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:70321600-70322000	Enhancers	Placenta	Placenta
9	chr7:70321600-70322000	Bivalent Enhancer	Fetal Stomach	stomach
10	chr7:70321600-70322400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:70321600-70323400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:70321600-70323400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr7:70321600-70323600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr7:70321800-70322800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:70322000-70322200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:70322000-70322800	Enhancers	Fetal Stomach	stomach
17	chr7:70322200-70322800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr7:70322200-70322800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr7:70322200-70323400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr7:70322400-70322800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr7:70322400-70322800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:70322800-70323000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:70322800-70323400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:70322800-70323400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr7:70322800-70323600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:70322800-70323600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr7:70323000-70323400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:70323400-70323800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr7:70323400-70323800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:70323400-70324200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr7:70323600-70324400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
32	chr7:70323600-70325000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
33	chr7:70323600-70325000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr7:70323800-70324200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
35	chr7:70323800-70324600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:70323800-70324800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
37	chr7:70333600-70333800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:70333800-70335600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:70334200-70334800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:70335600-70335800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:70335600-70335800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:70335800-70349000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:70336600-70337000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
44	chr7:70337400-70338000	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr7:70337800-70338400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr7:70346600-70347200	Enhancers	Fetal Stomach	stomach
47	chr7:70348800-70352000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr7:70349000-70350000	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr7:70349000-70350000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr7:70349000-70350000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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