Variant report

Variant	nsv1022932
Chromosome Location	chr7:69496659-69564369
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:69396739..69397519-chr7:69507195..69508169,2	MCF-7	breast:
2	chr7:69492662..69494533-chr7:69494789..69496993,2	MCF-7	breast:
3	chr7:69521541..69523316-chr7:69526522..69528955,2	K562	blood:
4	chr7:69507131..69507765-chr7:69626314..69626849,2	MCF-7	breast:
5	chr7:69507240..69508178-chr7:69626181..69627189,3	MCF-7	breast:
6	chr7:66842895..66843844-chr7:69506111..69506611,2	K562	blood:
7	chr7:69499839..69501750-chr7:69505112..69507033,2	K562	blood:
8	chr7:69499053..69501725-chr7:69503584..69505273,2	MCF-7	breast:
9	chr7:69499839..69501750-chr7:69505112..69507033,2	K562	blood:
10	chr7:69507502..69508119-chr7:69626360..69626921,2	MCF-7	breast:
11	chr7:69507259..69508393-chr7:70162935..70163782,5	MCF-7	breast:
12	chr7:69497223..69498827-chr7:75682807..75685073,2	MCF-7	breast:
13	chr7:69560759..69562378-chr7:69565105..69567328,2	MCF-7	breast:
14	chr7:69499053..69501725-chr7:69503584..69505273,2	MCF-7	breast:
15	chr7:67257876..67258792-chr7:69506066..69506610,2	MCF-7	breast:
16	chr7:69521541..69523316-chr7:69526522..69528955,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000146701	chromatin interactions

Extended variants
information (count: 2232 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2232 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191870391	chr7:69496669-69496670	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs539053655	chr7:69496688-69496689	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs80023902	chr7:69496689-69496690	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs572603186	chr7:69496746-69496747	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs143555472	chr7:69496749-69496750	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs75773641	chr7:69496790-69496791	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs576661356	chr7:69496801-69496802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543918079	chr7:69496804-69496805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs117147754	chr7:69496817-69496818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148044718	chr7:69496851-69496852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577537251	chr7:69496885-69496886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374101905	chr7:69496891-69496892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544631069	chr7:69496935-69496936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183167595	chr7:69496951-69496952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527423730	chr7:69496954-69496955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141724002	chr7:69496999-69497000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186777263	chr7:69497007-69497008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531413870	chr7:69497014-69497015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550013192	chr7:69497054-69497055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150545226	chr7:69497055-69497056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532530755	chr7:69497140-69497141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547848392	chr7:69497163-69497164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1035011	chr7:69497210-69497211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189674780	chr7:69497229-69497230	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs575226964	chr7:69497238-69497239	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs544247697	chr7:69497239-69497240	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs535561655	chr7:69497251-69497252	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs570193036	chr7:69497303-69497304	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs537264336	chr7:69497328-69497329	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559180737	chr7:69497441-69497442	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs138564868	chr7:69497452-69497453	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs141554993	chr7:69497485-69497486	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs146169822	chr7:69497488-69497489	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs564145589	chr7:69497500-69497501	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567672828	chr7:69497526-69497527	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs542664699	chr7:69497527-69497528	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs560833660	chr7:69497591-69497592	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs531508272	chr7:69497606-69497607	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs182695879	chr7:69497609-69497610	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs139764610	chr7:69497710-69497711	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs371483028	chr7:69497720-69497721	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs532492515	chr7:69497744-69497745	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs546091807	chr7:69497757-69497758	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs34505996	chr7:69497773-69497774	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs371241588	chr7:69497797-69497798	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs112104238	chr7:69497869-69497870	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200716995	chr7:69497870-69497871	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs58452434	chr7:69497882-69497883	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs547809834	chr7:69497901-69497902	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs76542101	chr7:69497933-69497934	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	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
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
Lung adenocarcinoma	17982442	CNVD

Chromatin state (count:813 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69477200-69507600	Weak transcription	Right Atrium	heart
2	chr7:69487000-69497600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:69491600-69499800	Weak transcription	Left Ventricle	heart
4	chr7:69492600-69499800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:69493400-69508000	Weak transcription	Fetal Brain Male	brain
6	chr7:69493600-69497400	Weak transcription	Primary B cells from cord blood	blood
7	chr7:69495000-69496800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:69495200-69501000	Weak transcription	Thymus	Thymus
9	chr7:69495400-69501000	Weak transcription	Fetal Thymus	thymus
10	chr7:69495600-69498200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:69495800-69497400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:69495800-69498000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:69495800-69498400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:69496000-69496800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:69496200-69496800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:69496400-69496800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
17	chr7:69496400-69497600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:69496400-69500000	Weak transcription	Fetal Heart	heart
19	chr7:69496400-69505200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:69496400-69509600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:69496600-69497800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:69496600-69500200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:69496600-69500800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr7:69496800-69497600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:69496800-69497800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr7:69496800-69499200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:69497400-69497800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr7:69497400-69497800	ZNF genes & repeats	Primary B cells from cord blood	blood
29	chr7:69497600-69497800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:69497600-69497800	Enhancers	Psoas Muscle	Psoas
31	chr7:69497600-69498000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr7:69497600-69498000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr7:69497800-69498200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr7:69497800-69498600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:69497800-69499800	Weak transcription	Psoas Muscle	Psoas
36	chr7:69497800-69500000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:69497800-69500200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:69498000-69499400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr7:69498000-69500000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr7:69498000-69501000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr7:69498200-69501600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr7:69498400-69500200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr7:69498600-69501400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:69499200-69500800	Enhancers	Adipose Nuclei	Adipose
45	chr7:69499200-69502000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:69499600-69502000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr7:69499800-69500400	Enhancers	Psoas Muscle	Psoas
48	chr7:69499800-69501400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:69499800-69501800	Enhancers	Left Ventricle	heart
50	chr7:69499800-69502000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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