Variant report

Variant	nsv607429
Chromosome Location	chr7:69430748-69553093
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:27)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:69499839..69501750-chr7:69505112..69507033,2	K562	blood:
2	chr7:69499839..69501750-chr7:69505112..69507033,2	K562	blood:
3	chr7:69459148..69462116-chr7:69464154..69466270,2	K562	blood:
4	chr7:69521541..69523316-chr7:69526522..69528955,2	K562	blood:
5	chr7:69472277..69474938-chr7:69476537..69478191,2	K562	blood:
6	chr7:69499053..69501725-chr7:69503584..69505273,2	MCF-7	breast:
7	chr7:69448782..69451652-chr7:69453514..69455683,2	K562	blood:
8	chr7:69472277..69474938-chr7:69476537..69478191,2	K562	blood:
9	chr7:69499053..69501725-chr7:69503584..69505273,2	MCF-7	breast:
10	chr7:69497223..69498827-chr7:75682807..75685073,2	MCF-7	breast:
11	chr7:69507131..69507765-chr7:69626314..69626849,2	MCF-7	breast:
12	chr7:69396739..69397519-chr7:69507195..69508169,2	MCF-7	breast:
13	chr7:69507259..69508393-chr7:70162935..70163782,5	MCF-7	breast:
14	chr7:69453365..69456606-chr7:69459884..69464599,5	K562	blood:
15	chr7:69459148..69462116-chr7:69464154..69466270,2	K562	blood:
16	chr7:69453365..69456606-chr7:69459884..69464599,5	K562	blood:
17	chr7:69448782..69451652-chr7:69453514..69455683,2	K562	blood:
18	chr7:67257876..67258792-chr7:69506066..69506610,2	MCF-7	breast:
19	chr7:69507240..69508178-chr7:69626181..69627189,3	MCF-7	breast:
20	chr7:69418634..69420209-chr7:69430250..69432320,2	MCF-7	breast:
21	chr7:69423156..69425237-chr7:69469774..69471942,2	MCF-7	breast:
22	chr7:69507502..69508119-chr7:69626360..69626921,2	MCF-7	breast:
23	chr7:66842895..66843844-chr7:69506111..69506611,2	K562	blood:
24	chr7:69422896..69425409-chr7:69440425..69442318,2	K562	blood:
25	chr7:69492662..69494533-chr7:69494789..69496993,2	MCF-7	breast:
26	chr7:69492662..69494533-chr7:69494789..69496993,2	MCF-7	breast:
27	chr7:69521541..69523316-chr7:69526522..69528955,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WBSCR17-7	chr7:69440911-69441196	uc_218_+
2	lnc-CALN1-6	chr7:69440911-69441196	uc_218_-

No data

Variant related genes	Relation type
ENSG00000146701	chromatin interactions

Extended variants
information (count: 3984 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:3984 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12698827	chr7:69430748-69430749	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566609104	chr7:69430804-69430805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144868238	chr7:69430827-69430828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149220622	chr7:69430844-69430845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368397413	chr7:69430869-69430870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190775608	chr7:69430877-69430878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114245264	chr7:69430879-69430880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538106281	chr7:69430901-69430902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556456203	chr7:69430951-69430952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182250562	chr7:69430998-69430999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112755623	chr7:69431025-69431026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186772547	chr7:69431028-69431029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190943061	chr7:69431100-69431101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115206829	chr7:69431213-69431214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199603773	chr7:69431279-69431280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143414240	chr7:69431281-69431282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs386714421	chr7:69431366-69431367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553966263	chr7:69431454-69431455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553396991	chr7:69431550-69431551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371504185	chr7:69431606-69431607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183215477	chr7:69431671-69431672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150262306	chr7:69431698-69431699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188228801	chr7:69431762-69431763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542735404	chr7:69431767-69431768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561110706	chr7:69431782-69431783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34695156	chr7:69431799-69431800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570762667	chr7:69431852-69431853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531819530	chr7:69431867-69431868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140683381	chr7:69431886-69431887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192923562	chr7:69431920-69431921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145760430	chr7:69431951-69431952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558442920	chr7:69431999-69432000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551319196	chr7:69432114-69432115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565512233	chr7:69432144-69432145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566480852	chr7:69432222-69432223	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527355010	chr7:69432259-69432260	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549117351	chr7:69432260-69432261	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs67860816	chr7:69432307-69432308	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs386714422	chr7:69432310-69432311	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs202117546	chr7:69432311-69432312	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs117537603	chr7:69432339-69432340	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566666620	chr7:69432345-69432346	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375035900	chr7:69432395-69432396	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571559353	chr7:69432412-69432413	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs138342938	chr7:69432433-69432434	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs553722450	chr7:69432437-69432438	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs368995210	chr7:69432476-69432477	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs80040876	chr7:69432613-69432614	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs142823622	chr7:69432629-69432630	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs576769294	chr7:69432636-69432637	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Lung adenocarcinoma	17982442	CNVD

Chromatin state (count:1455 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69427800-69432000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:69427800-69432200	Weak transcription	Esophagus	oesophagus
3	chr7:69427800-69432200	Weak transcription	Left Ventricle	heart
4	chr7:69427800-69432200	Weak transcription	Lung	lung
5	chr7:69427800-69432400	Weak transcription	Pancreas	Pancrea
6	chr7:69428000-69432000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:69428000-69432000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:69428000-69432000	Weak transcription	Fetal Brain Male	brain
9	chr7:69428000-69432000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:69428000-69432200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:69428000-69432200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:69428000-69432400	Enhancers	Fetal Heart	heart
13	chr7:69428200-69432000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:69428200-69432000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr7:69428200-69432000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:69428200-69432000	Weak transcription	Brain Substantia Nigra	brain
17	chr7:69428200-69432200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr7:69428200-69432200	Weak transcription	Adipose Nuclei	Adipose
19	chr7:69428200-69432200	Weak transcription	Brain Anterior Caudate	brain
20	chr7:69428200-69432200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:69428200-69432200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr7:69428200-69432400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:69428400-69432200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:69428400-69432200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:69428600-69431200	Weak transcription	Fetal Kidney	kidney
26	chr7:69428600-69431600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:69428600-69431600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:69428600-69431800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr7:69428600-69432000	Weak transcription	Colon Smooth Muscle	Colon
30	chr7:69428600-69432000	Weak transcription	Fetal Brain Female	brain
31	chr7:69428600-69432000	Weak transcription	Fetal Muscle Leg	muscle
32	chr7:69428600-69432200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:69428600-69432200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:69428600-69432200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr7:69428600-69432200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr7:69428600-69432200	Weak transcription	Psoas Muscle	Psoas
37	chr7:69428600-69432200	Weak transcription	Right Atrium	heart
38	chr7:69428600-69432200	Weak transcription	Right Ventricle	heart
39	chr7:69428600-69432600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr7:69428800-69430800	Enhancers	Thymus	Thymus
41	chr7:69428800-69431600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:69428800-69432000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:69428800-69432200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:69428800-69432600	Weak transcription	Aorta	Aorta
45	chr7:69429000-69431200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr7:69429000-69431800	Weak transcription	Fetal Lung	lung
47	chr7:69429000-69432200	Weak transcription	Brain Hippocampus Middle	brain
48	chr7:69429000-69432200	Weak transcription	GM12878-XiMat	blood
49	chr7:69429200-69432000	Weak transcription	Fetal Stomach	stomach
50	chr7:69429200-69432200	Weak transcription	Primary T cells from cord blood	blood

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