Variant report

Variant	nsv970870
Chromosome Location	chr7:66147890-66158166
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:21)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:66146920..66148585-chr7:66152307..66154407,2	MCF-7	breast:
2	chr7:66119490..66121348-chr7:66145844..66148158,2	K562	blood:
3	chr7:66151342..66153524-chr7:66155047..66159440,3	K562	blood:
4	chr7:66147345..66148941-chr7:66150960..66153085,3	K562	blood:
5	chr7:66145494..66148897-chr7:66149256..66153085,4	K562	blood:
6	chr7:66150663..66153524-chr7:66155047..66157975,3	K562	blood:
7	chr7:66147345..66148941-chr7:66150960..66153085,3	K562	blood:
8	chr7:66120659..66123648-chr7:66152144..66153650,2	K562	blood:
9	chr7:66144687..66148625-chr7:66203954..66207507,6	K562	blood:
10	chr7:66093496..66095365-chr7:66150110..66153018,2	MCF-7	breast:
11	chr7:66145819..66148736-chr7:66203770..66205462,3	MCF-7	breast:
12	chr7:66151342..66153524-chr7:66155047..66159440,3	K562	blood:
13	chr7:66155376..66157411-chr7:66204000..66206199,2	K562	blood:
14	chr7:66152724..66154924-chr7:66196549..66198273,2	MCF-7	breast:
15	chr7:66151739..66154108-chr7:66162827..66165532,2	K562	blood:
16	chr7:66144717..66148625-chr7:66203954..66207507,5	K562	blood:
17	chr7:66145930..66148922-chr7:66213233..66215140,2	MCF-7	breast:
18	chr7:66149593..66151566-chr7:66161338..66163693,2	K562	blood:
19	chr7:66151840..66154108-chr7:66162793..66165532,2	K562	blood:
20	chr7:66150663..66153524-chr7:66155047..66157975,3	K562	blood:
21	chr7:66145800..66148420-chr7:66309175..66311369,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RABGEF1-3	chr7:66150347-66150630	NONHSAT121219
2	lnc-RABGEF1-3	chr7:66150347-66150679	NR_104676

No data

Variant related genes	Relation type
ENSG00000154710	chromatin interactions
ENSG00000226824	chromatin interactions
ENSG00000230583	chromatin interactions
ENSG00000243335	chromatin interactions
ENSG00000271064	chromatin interactions
ENSG00000272831	chromatin interactions

Extended variants
information (count: 410 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:410 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372663936	chr7:66147894-66147895	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs147276785	chr7:66147931-66147932	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs568521402	chr7:66147944-66147945	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs534064616	chr7:66147951-66147952	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs113248801	chr7:66147973-66147974	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs190692040	chr7:66147974-66147975	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs113047231	chr7:66147976-66147977	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs552019910	chr7:66147999-66148000	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs183399328	chr7:66148047-66148048	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs117296219	chr7:66148165-66148166	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs117699827	chr7:66148171-66148172	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs561574337	chr7:66148173-66148174	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs527371092	chr7:66148256-66148257	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs186221141	chr7:66148267-66148268	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs549802444	chr7:66148284-66148285	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs7788576	chr7:66148302-66148303	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs190682463	chr7:66148326-66148327	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs182896952	chr7:66148377-66148378	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs529205244	chr7:66148439-66148440	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs548563380	chr7:66148442-66148443	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs568370260	chr7:66148444-66148445	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs7808373	chr7:66148485-66148486	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs547505425	chr7:66148489-66148490	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs570674757	chr7:66148493-66148494	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs6460312	chr7:66148507-66148508	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs139660553	chr7:66148640-66148641	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs576670712	chr7:66148663-66148664	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs112354586	chr7:66148670-66148671	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs117870539	chr7:66148688-66148689	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
30	rs377632592	chr7:66148714-66148715	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs144041622	chr7:66148715-66148716	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs554912563	chr7:66148716-66148717	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs574966672	chr7:66148718-66148719	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs75616236	chr7:66148743-66148744	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs572075452	chr7:66148746-66148747	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs541100411	chr7:66148828-66148829	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs564187122	chr7:66148829-66148830	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs367606687	chr7:66148848-66148849	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs547550890	chr7:66148853-66148854	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs543583966	chr7:66148887-66148888	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs563386960	chr7:66148900-66148901	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs149745361	chr7:66148901-66148902	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs202212367	chr7:66148904-66148905	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs562084462	chr7:66148915-66148916	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs188215078	chr7:66148938-66148939	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs547420113	chr7:66148950-66148951	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs570588758	chr7:66148984-66148985	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs539591371	chr7:66149031-66149032	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs550339466	chr7:66149109-66149110	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs570164838	chr7:66149125-66149126	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
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
Hodgkin''s lymphoma	18641027	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
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	21346763	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:460 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66146000-66148200	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr7:66146000-66148400	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr7:66146000-66148400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:66146000-66148400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr7:66146000-66148800	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr7:66146000-66149200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:66146200-66148000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:66146200-66148000	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr7:66146200-66148200	Active TSS	H1 Cell Line	embryonic stem cell
10	chr7:66146200-66148200	Active TSS	Psoas Muscle	Psoas
11	chr7:66146200-66148400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr7:66146200-66148600	Active TSS	Rectal Smooth Muscle	rectum
13	chr7:66146200-66148600	Active TSS	GM12878-XiMat	blood
14	chr7:66146200-66149000	Active TSS	HSMM	muscle
15	chr7:66146400-66148000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:66146400-66148000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:66146400-66148000	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr7:66146400-66148000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:66146400-66148000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:66146400-66148000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:66146400-66148000	Active TSS	Aorta	Aorta
22	chr7:66146400-66148000	Active TSS	Brain Substantia Nigra	brain
23	chr7:66146400-66148000	Active TSS	Left Ventricle	heart
24	chr7:66146400-66148200	Active TSS	H9 Cell Line	embryonic stem cell
25	chr7:66146400-66148200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:66146400-66148200	Active TSS	Fetal Kidney	kidney
27	chr7:66146400-66148200	Active TSS	Gastric	stomach
28	chr7:66146400-66148200	Active TSS	Ovary	ovary
29	chr7:66146400-66148200	Active TSS	A549	lung
30	chr7:66146400-66148400	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr7:66146400-66148400	Active TSS	Esophagus	oesophagus
32	chr7:66146400-66148600	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr7:66146400-66148600	Active TSS	HSMMtube	muscle
34	chr7:66146400-66148800	Active TSS	Muscle Satellite Cultured Cells	--
35	chr7:66146400-66149000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:66146400-66149000	Active TSS	NHDF-Ad	bronchial
37	chr7:66146400-66149000	Active TSS	NHLF	lung
38	chr7:66146400-66149400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr7:66146600-66148000	Active TSS	Primary T cells from cord blood	blood
40	chr7:66146600-66148000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:66146600-66148000	Active TSS	Brain Cingulate Gyrus	brain
42	chr7:66146600-66148000	Active TSS	Brain Hippocampus Middle	brain
43	chr7:66146600-66148000	Active TSS	Fetal Lung	lung
44	chr7:66146600-66148000	Active TSS	Placenta Amnion	Placenta Amnion
45	chr7:66146600-66148000	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr7:66146600-66148000	Active TSS	Hela-S3	cervix
47	chr7:66146600-66148000	Active TSS	NHEK	skin
48	chr7:66146600-66148200	Active TSS	Brain Anterior Caudate	brain
49	chr7:66146600-66148200	Active TSS	Colonic Mucosa	Colon
50	chr7:66146600-66148200	Active TSS	Colon Smooth Muscle	Colon

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