Variant report

Variant	nsv888983
Chromosome Location	chr7:110869432-110978703
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:90)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:90 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:110729634..110730189-chr7:110952732..110953606,2	MCF-7	breast:
2	chr7:110963413..110966213-chr7:110967085..110969024,2	K562	blood:
3	chr7:110865069..110867467-chr7:110870810..110872460,2	K562	blood:
4	chr7:110904002..110906677-chr7:110908987..110911839,2	K562	blood:
5	chr7:110901427..110902958-chr7:110904579..110907166,2	MCF-7	breast:
6	chr7:110924432..110926999-chr7:110933691..110937635,4	K562	blood:
7	chr7:110858379..110861216-chr7:110867269..110869936,2	MCF-7	breast:
8	chr7:110924808..110925532-chr7:111126328..111127072,2	MCF-7	breast:
9	chr7:110962126..110964268-chr7:110964422..110967257,2	K562	blood:
10	chr7:110876830..110878652-chr7:110880390..110881983,2	K562	blood:
11	chr7:110964713..110967341-chr7:110967524..110969143,2	K562	blood:
12	chr7:110959106..110960834-chr7:110964696..110967313,2	K562	blood:
13	chr7:110958175..110961174-chr7:110967524..110969443,2	K562	blood:
14	chr7:110929795..110932437-chr7:110933207..110936083,3	K562	blood:
15	chr7:110946449..110947994-chr7:110949688..110952187,2	K562	blood:
16	chr7:110935982..110938365-chr7:110942817..110944691,2	K562	blood:
17	chr7:110935982..110938365-chr7:110942817..110944691,2	K562	blood:
18	chr7:110955341..110956918-chr7:110957234..110959729,2	K562	blood:
19	chr7:110910606..110912820-chr7:110916912..110919074,2	K562	blood:
20	chr7:110934094..110935861-chr7:110939196..110941083,3	K562	blood:
21	chr7:110875743..110879019-chr7:110880390..110884102,5	K562	blood:
22	chr7:110907955..110909675-chr7:110912861..110914751,2	K562	blood:
23	chr7:110867615..110869914-chr7:110870998..110874841,5	K562	blood:
24	chr7:110958175..110961174-chr7:110967524..110969443,2	K562	blood:
25	chr7:110929795..110932437-chr7:110933207..110936083,3	K562	blood:
26	chr7:110867615..110870539-chr7:110870998..110875749,6	K562	blood:
27	chr7:110968689..110972135-chr7:110972915..110976641,3	K562	blood:
28	chr7:110901427..110902958-chr7:110904579..110907166,2	MCF-7	breast:
29	chr7:110941321..110943443-chr7:111373654..111375242,2	K562	blood:
30	chr7:110970018..110971875-chr7:110977199..110979815,2	K562	blood:
31	chr7:110969454..110970228-chr7:111375556..111376647,3	MCF-7	breast:
32	chr7:110955341..110956918-chr7:110957234..110959729,2	K562	blood:
33	chr7:110963413..110966213-chr7:110967085..110969024,2	K562	blood:
34	chr7:110946449..110947994-chr7:110949688..110952187,2	K562	blood:
35	chr7:110867615..110869914-chr7:110870998..110874841,5	K562	blood:
36	chr7:110946494..110948605-chr7:110949688..110952299,2	K562	blood:
37	chr7:110934094..110935861-chr7:110939196..110941083,3	K562	blood:
38	chr7:110922885..110927148-chr7:110927337..110932171,6	K562	blood:
39	chr7:110873178..110876028-chr7:110879023..110881102,2	K562	blood:
40	chr7:110919285..110921892-chr7:110924129..110926222,2	K562	blood:
41	chr7:110958175..110962470-chr7:110967524..110970471,4	K562	blood:
42	chr7:110975243..110978153-chr7:110979724..110981495,2	K562	blood:
43	chr7:110941905..110944454-chr7:110944620..110946786,2	K562	blood:
44	chr7:110946954..110949529-chr7:111129446..111130953,2	MCF-7	breast:
45	chr7:110924432..110926999-chr7:110933691..110937635,4	K562	blood:
46	chr7:110977304..110981066-chr7:110982767..110987604,6	K562	blood:
47	chr7:110941905..110944454-chr7:110944620..110946786,2	K562	blood:
48	chr7:110959334..110960882-chr7:110965813..110967484,2	K562	blood:
49	chr7:110959334..110960882-chr7:110965813..110967484,2	K562	blood:
50	chr7:110969852..110970371-chr7:111126745..111127278,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DOCK4-7	chr7:110902289-110902553	expReg_chr7_8342_-

No data

Variant related genes	Relation type
ENSG00000136856	chromatin interactions

Extended variants
information (count: 3548 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:3548 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10262486	chr7:110869432-110869433	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539457043	chr7:110869442-110869443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560363536	chr7:110869487-110869488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189925125	chr7:110869546-110869547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375263820	chr7:110869579-110869580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549503686	chr7:110869595-110869596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182134835	chr7:110869678-110869679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535315700	chr7:110869765-110869766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs40362	chr7:110869766-110869767	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs143375266	chr7:110869778-110869779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372962968	chr7:110869811-110869812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539798871	chr7:110869865-110869866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558182388	chr7:110869896-110869897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146735212	chr7:110869926-110869927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537527873	chr7:110869940-110869941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115889654	chr7:110869988-110869989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187539994	chr7:110870051-110870052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541280683	chr7:110870077-110870078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193011111	chr7:110870112-110870113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552337639	chr7:110870160-110870161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs578188181	chr7:110870174-110870175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368731756	chr7:110870197-110870198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184726279	chr7:110870224-110870225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544954008	chr7:110870230-110870231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188705360	chr7:110870234-110870235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111678673	chr7:110870245-110870246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531237697	chr7:110870295-110870296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543089158	chr7:110870297-110870298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78408935	chr7:110870356-110870357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191899721	chr7:110870420-110870421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74350984	chr7:110870465-110870466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568839401	chr7:110870503-110870504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547278623	chr7:110870506-110870507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565914298	chr7:110870535-110870536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574980144	chr7:110870564-110870565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184783313	chr7:110870678-110870679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542359523	chr7:110870728-110870729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551734902	chr7:110870738-110870739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113274179	chr7:110870746-110870747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570044116	chr7:110870769-110870770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189196067	chr7:110870800-110870801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555796220	chr7:110870810-110870811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368912380	chr7:110870876-110870877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373319557	chr7:110870888-110870889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567662805	chr7:110870904-110870905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535171885	chr7:110870937-110870938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140281472	chr7:110870980-110870981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181830903	chr7:110871015-110871016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545279128	chr7:110871060-110871061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199664993	chr7:110871080-110871081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Melanoma	17363583	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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	21509527	CNVD
Autism	20531469	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:482 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110865000-110869600	Weak transcription	Adipose Nuclei	Adipose
2	chr7:110865000-110872200	Weak transcription	Osteobl	bone
3	chr7:110865200-110872600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr7:110865800-110869800	Weak transcription	A549	lung
5	chr7:110867400-110869800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:110867400-110870800	Weak transcription	NHDF-Ad	bronchial
7	chr7:110867400-110872400	Weak transcription	Placenta	Placenta
8	chr7:110867800-110871800	Weak transcription	HUVEC	blood vessel
9	chr7:110867800-110872200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:110867800-110872400	Weak transcription	K562	blood
11	chr7:110869400-110871600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:110869600-110870600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:110869600-110871400	Enhancers	Adipose Nuclei	Adipose
14	chr7:110869800-110871000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:110869800-110871200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:110869800-110872400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:110869800-110872400	Enhancers	A549	lung
18	chr7:110870000-110871000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:110870200-110870400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:110870200-110870600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:110870200-110871000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:110870400-110872800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:110870600-110872400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr7:110870600-110872400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:110870800-110871000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:110870800-110871200	Enhancers	NHDF-Ad	bronchial
27	chr7:110871000-110871600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:110871000-110872200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:110871000-110878600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:110871200-110872400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr7:110871200-110872400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:110871200-110872400	Weak transcription	NHDF-Ad	bronchial
33	chr7:110871400-110871800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:110871400-110878400	Weak transcription	Adipose Nuclei	Adipose
35	chr7:110871600-110871800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr7:110871600-110872400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:110871800-110872200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:110871800-110872800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:110871800-110873200	Enhancers	HUVEC	blood vessel
40	chr7:110872200-110872800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:110872200-110873200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:110872200-110873200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:110872200-110873200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr7:110872200-110873200	Enhancers	Osteobl	bone
45	chr7:110872400-110872600	Enhancers	Placenta	Placenta
46	chr7:110872400-110873000	Enhancers	Primary hematopoietic stem cells	blood
47	chr7:110872400-110873000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:110872400-110873200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr7:110872400-110873200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:110872400-110873200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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