Variant report

Variant	nsv889056
Chromosome Location	chr7:112652854-112723093
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:30)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:112682248..112683838-chr7:112894672..112896979,2	K562	blood:
2	chr7:112509083..112509822-chr7:112654779..112655292,2	MCF-7	breast:
3	chr7:112714018..112716615-chr7:112717712..112719253,2	K562	blood:
4	chr7:112723034..112725310-chr7:112753782..112755599,2	MCF-7	breast:
5	chr7:112696520..112698200-chr7:112699916..112702852,2	MCF-7	breast:
6	chr7:112716768..112718529-chr7:112755627..112758248,2	K562	blood:
7	chr7:112654683..112655746-chr7:113061433..113062375,3	K562	blood:
8	chr7:112695979..112699168-chr7:112699243..112702331,3	K562	blood:
9	chr7:112655256..112655797-chr7:112929374..112930128,2	MCF-7	breast:
10	chr7:112695979..112699168-chr7:112699243..112702331,3	K562	blood:
11	chr7:112653832..112655497-chr7:112753115..112754776,2	MCF-7	breast:
12	chr7:112687592..112689937-chr7:112698080..112700516,2	K562	blood:
13	chr7:112654663..112655993-chr7:113338417..113339149,3	MCF-7	breast:
14	chr7:112703408..112705692-chr7:112716673..112719279,2	K562	blood:
15	chr7:112703408..112705692-chr7:112716673..112719279,2	K562	blood:
16	chr7:112654853..112656193-chr7:112753393..112754620,7	MCF-7	breast:
17	chr7:112655258..112655792-chr7:112749920..112750861,2	MCF-7	breast:
18	chr7:112655287..112655802-chr7:113061468..113062197,2	MCF-7	breast:
19	chr7:112676603..112678329-chr7:112682041..112684598,2	K562	blood:
20	chr7:112654983..112656027-chr7:113061405..113062486,9	MCF-7	breast:
21	chr7:112721230..112724199-chr7:112725875..112727667,2	K562	blood:
22	chr7:112654800..112655464-chr7:112754097..112754722,2	MCF-7	breast:
23	chr7:112680260..112683174-chr7:112683232..112685538,2	MCF-7	breast:
24	chr7:112680260..112683174-chr7:112683232..112685538,2	MCF-7	breast:
25	chr7:112713707..112715518-chr7:112717712..112719924,2	K562	blood:
26	chr7:112676603..112678329-chr7:112682041..112684598,2	K562	blood:
27	chr7:112696520..112698200-chr7:112699916..112702852,2	MCF-7	breast:
28	chr7:112714018..112716615-chr7:112717712..112719253,2	K562	blood:
29	chr7:112713707..112715518-chr7:112717712..112719924,2	K562	blood:
30	chr7:112687592..112689937-chr7:112698080..112700516,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR85-1	chr7:112715179-112717236	NONHSAT122812

No data

Variant related genes	Relation type
ENSG00000164604	chromatin interactions

Extended variants
information (count: 815 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:815 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7801538	chr7:112652854-112652855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186861950	chr7:112652920-112652921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146004343	chr7:112652921-112652922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538749970	chr7:112652975-112652976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139857470	chr7:112652978-112652979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558485255	chr7:112653031-112653032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554820142	chr7:112653043-112653044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573069590	chr7:112653100-112653101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539802732	chr7:112653137-112653138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567304201	chr7:112653156-112653157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201246096	chr7:112653177-112653178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs193170916	chr7:112653192-112653193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141670612	chr7:112653203-112653204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575254229	chr7:112653288-112653289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373884691	chr7:112653380-112653381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369291229	chr7:112653437-112653438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536689367	chr7:112653451-112653452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546777645	chr7:112653464-112653465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562474081	chr7:112653476-112653477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146182192	chr7:112653479-112653480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566961118	chr7:112653481-112653482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542075561	chr7:112653509-112653510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554472502	chr7:112653553-112653554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574557330	chr7:112653581-112653582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10953724	chr7:112653614-112653615	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs527994665	chr7:112653626-112653627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139060340	chr7:112653650-112653651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149880549	chr7:112653651-112653652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145381539	chr7:112653663-112653664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560188158	chr7:112653744-112653745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550225693	chr7:112653747-112653748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575980836	chr7:112653760-112653761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576990280	chr7:112653812-112653813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148802992	chr7:112653903-112653904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375073215	chr7:112653977-112653978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117600855	chr7:112654031-112654032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566709219	chr7:112654167-112654168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533830688	chr7:112654215-112654216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558461955	chr7:112654225-112654226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576412700	chr7:112654282-112654283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543828322	chr7:112654345-112654346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556191864	chr7:112654362-112654363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144786660	chr7:112654408-112654409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542365664	chr7:112654442-112654443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73196951	chr7:112654450-112654451	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs116538000	chr7:112654454-112654455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546505227	chr7:112654456-112654457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11983499	chr7:112654549-112654550	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs531709059	chr7:112654572-112654573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34619854	chr7:112654577-112654578	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21248843	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112650600-112655000	Weak transcription	Fetal Heart	heart
2	chr7:112652800-112654000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:112653600-112654800	Enhancers	NHEK	skin
4	chr7:112653800-112654800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:112653800-112655200	Enhancers	HMEC	breast
6	chr7:112654000-112654400	Enhancers	Esophagus	oesophagus
7	chr7:112654000-112654600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:112654000-112654600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:112655000-112655800	Enhancers	Fetal Heart	heart
10	chr7:112658800-112659200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:112666000-112667000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:112666400-112666600	Enhancers	Fetal Heart	heart
13	chr7:112666400-112667200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:112666400-112667200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:112666600-112668000	Weak transcription	Fetal Heart	heart
16	chr7:112668000-112669400	Enhancers	Fetal Heart	heart
17	chr7:112670000-112670800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:112674600-112675000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:112674600-112675200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr7:112674800-112675200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr7:112674800-112675600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:112677400-112678000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:112681000-112681800	Enhancers	Fetal Heart	heart
24	chr7:112683000-112684400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:112683200-112684000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr7:112683400-112683800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:112683400-112683800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:112683400-112684000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr7:112683400-112684600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:112683600-112684000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr7:112685600-112685800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:112688200-112688600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:112697800-112698400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:112698000-112699000	Enhancers	K562	blood
35	chr7:112702400-112703000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr7:112704600-112705200	Enhancers	Fetal Heart	heart
37	chr7:112710600-112711800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr7:112711000-112711800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr7:112711200-112711600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:112711200-112711600	Enhancers	HMEC	breast
41	chr7:112711200-112711600	Enhancers	Osteobl	bone
42	chr7:112711200-112712000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:112711200-112712000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:112711200-112712200	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr7:112714400-112714600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:112715000-112716200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:112715600-112715800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
48	chr7:112715600-112715800	Enhancers	Fetal Brain Female	brain
49	chr7:112715600-112716600	Enhancers	Fetal Brain Male	brain
50	chr7:112715800-112716000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell

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