Variant report

Variant	nsv608160
Chromosome Location	chr7:110892059-111023322
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:109)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:109 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr7:110922885..110927148-chr7:110927337..110932171,6	K562	blood:
2	chr7:110946188..110948736-chr7:111369766..111372546,2	K562	blood:
3	chr7:110983062..110985792-chr7:110987528..110989399,4	K562	blood:
4	chr7:110729634..110730189-chr7:110952732..110953606,2	MCF-7	breast:
5	chr7:110969600..110972534-chr7:111078171..111081389,3	K562	blood:
6	chr7:110907955..110909675-chr7:110912861..110914751,2	K562	blood:
7	chr7:110962126..110964268-chr7:110964422..110967257,2	K562	blood:
8	chr7:110985007..110987369-chr7:110994363..110996141,2	K562	blood:
9	chr7:110973996..110977417-chr7:110978130..110980823,3	K562	blood:
10	chr7:110963413..110966213-chr7:110967085..110969024,2	K562	blood:
11	chr7:110963413..110966213-chr7:110967085..110969024,2	K562	blood:
12	chr7:110970635..110973843-chr7:110975141..110978905,5	K562	blood:
13	chr7:110978869..110982048-chr7:110982767..110985792,3	K562	blood:
14	chr7:111018295..111020688-chr7:111021531..111024788,3	MCF-7	breast:
15	chr7:110890356..110892390-chr7:110893967..110896589,2	K562	blood:
16	chr7:110958175..110962470-chr7:110967524..110970471,4	K562	blood:
17	chr7:110919285..110921892-chr7:110924129..110926222,2	K562	blood:
18	chr7:110904002..110906677-chr7:110908987..110911839,2	K562	blood:
19	chr7:110946494..110948605-chr7:110949688..110952299,2	K562	blood:
20	chr7:110946449..110947994-chr7:110949688..110952187,2	K562	blood:
21	chr7:110997175..111000339-chr7:111001551..111003490,3	K562	blood:
22	chr7:110973996..110977417-chr7:110978130..110980823,3	K562	blood:
23	chr7:111013152..111016122-chr7:111032306..111034572,2	K562	blood:
24	chr7:110955341..110956918-chr7:110957234..110959729,2	K562	blood:
25	chr7:110929795..110932437-chr7:110933207..110936083,3	K562	blood:
26	chr7:110946494..110948605-chr7:110949688..110952299,2	K562	blood:
27	chr7:110959334..110960882-chr7:110965813..110967484,2	K562	blood:
28	chr7:110997175..111000339-chr7:111001551..111003490,3	K562	blood:
29	chr7:110890356..110892390-chr7:110893967..110896589,2	K562	blood:
30	chr7:111018295..111020688-chr7:111021531..111024788,3	MCF-7	breast:
31	chr7:111001961..111006807-chr7:111013802..111016795,4	K562	blood:
32	chr7:111017537..111020347-chr7:111082285..111084321,2	K562	blood:
33	chr7:110969503..110970311-chr7:111375483..111376413,3	K562	blood:
34	chr7:110953570..110955733-chr7:111376151..111377847,2	MCF-7	breast:
35	chr7:111012849..111014530-chr7:111019458..111021313,2	K562	blood:
36	chr7:110962569..110964668-chr7:110968085..110971412,3	K562	blood:
37	chr7:111018357..111021397-chr7:111023712..111026997,4	K562	blood:
38	chr7:110975243..110978153-chr7:110979724..110981495,2	K562	blood:
39	chr7:110958175..110961174-chr7:110967524..110969443,2	K562	blood:
40	chr7:110910606..110912820-chr7:110916912..110919074,2	K562	blood:
41	chr7:110978869..110982048-chr7:110982767..110985792,3	K562	blood:
42	chr7:110994535..110996072-chr7:110997457..110999303,2	K562	blood:
43	chr7:110958175..110961174-chr7:110967524..110969443,2	K562	blood:
44	chr7:110919285..110921892-chr7:110924129..110926222,2	K562	blood:
45	chr7:110929795..110932437-chr7:110933207..110936083,3	K562	blood:
46	chr7:110991909..110993941-chr7:110997470..110999246,2	K562	blood:
47	chr7:110958175..110962470-chr7:110967524..110970471,4	K562	blood:
48	chr7:111003207..111005251-chr7:111008050..111010228,2	K562	blood:
49	chr7:110970018..110971875-chr7:110977199..110979815,2	K562	blood:
50	chr7:110911704..110914495-chr7:111113882..111116767,2	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
ENSG00000184903	chromatin interactions

Extended variants
information (count: 4324 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:4324 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56354116	chr7:110892059-110892060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541492404	chr7:110892089-110892090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553837735	chr7:110892139-110892140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143955084	chr7:110892163-110892164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183362747	chr7:110892181-110892182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550524235	chr7:110892190-110892191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564165568	chr7:110892196-110892197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531620735	chr7:110892203-110892204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370880137	chr7:110892220-110892221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543768622	chr7:110892225-110892226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7779264	chr7:110892226-110892227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs186116889	chr7:110892268-110892269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148601902	chr7:110892302-110892303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566162622	chr7:110892304-110892305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371476680	chr7:110892332-110892333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533306277	chr7:110892336-110892337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190876457	chr7:110892373-110892374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532517135	chr7:110892392-110892393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569945002	chr7:110892422-110892423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576493602	chr7:110892440-110892441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547848062	chr7:110892456-110892457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111444056	chr7:110892458-110892459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs118140729	chr7:110892506-110892507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183010192	chr7:110892518-110892519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150731239	chr7:110892522-110892523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553532911	chr7:110892595-110892596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139399697	chr7:110892605-110892606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188150850	chr7:110892677-110892678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372231806	chr7:110892696-110892697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566146560	chr7:110892707-110892708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576326236	chr7:110892714-110892715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543705941	chr7:110892734-110892735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542990301	chr7:110892737-110892738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561621303	chr7:110892756-110892757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144545375	chr7:110892806-110892807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146596006	chr7:110892827-110892828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1978247	chr7:110892851-110892852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs537244899	chr7:110892862-110892863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527903656	chr7:110892866-110892867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373810886	chr7:110892878-110892879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367780272	chr7:110892879-110892880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140140461	chr7:110892887-110892888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112916143	chr7:110892947-110892948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114956267	chr7:110893069-110893070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145766079	chr7:110893079-110893080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192153399	chr7:110893161-110893162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567613176	chr7:110893232-110893233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183000386	chr7:110893241-110893242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547351157	chr7:110893281-110893282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571791929	chr7:110893297-110893298	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	17122850	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Autism	20531469	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110882600-110903800	Weak transcription	Aorta	Aorta
2	chr7:110893400-110893600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr7:110893400-110893600	Enhancers	Pancreas	Pancrea
4	chr7:110893400-110893800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr7:110893600-110894200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:110893600-110914800	Weak transcription	Pancreas	Pancrea
7	chr7:110893800-110894200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr7:110894200-110894400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:110894200-110895800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr7:110894600-110895200	Enhancers	HepG2	liver
11	chr7:110895200-110896000	Enhancers	K562	blood
12	chr7:110895200-110897200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:110895800-110896200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:110895800-110896800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr7:110895800-110896800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:110896000-110896400	Enhancers	Brain Hippocampus Middle	brain
17	chr7:110896200-110903600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:110901200-110903800	Enhancers	Osteobl	bone
19	chr7:110901200-110908200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:110901600-110904000	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr7:110901800-110902000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr7:110901800-110902800	Enhancers	HepG2	liver
23	chr7:110902000-110902600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr7:110902400-110902800	Enhancers	A549	lung
25	chr7:110902400-110903000	Enhancers	Psoas Muscle	Psoas
26	chr7:110902600-110902800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr7:110902800-110903600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:110902800-110905200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr7:110902800-110905800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr7:110902800-110906600	Weak transcription	HepG2	liver
31	chr7:110902800-110912000	Weak transcription	A549	lung
32	chr7:110903000-110904600	Weak transcription	Psoas Muscle	Psoas
33	chr7:110903400-110907600	Enhancers	Fetal Lung	lung
34	chr7:110903600-110903800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:110903600-110903800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:110903600-110904000	Enhancers	Adipose Nuclei	Adipose
37	chr7:110903600-110904800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:110903800-110904000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:110903800-110904000	Enhancers	Aorta	Aorta
40	chr7:110903800-110904600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:110903800-110905200	Weak transcription	Osteobl	bone
42	chr7:110903800-110906000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr7:110903800-110908400	Enhancers	HSMMtube	muscle
44	chr7:110904000-110904200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:110904000-110904400	Weak transcription	Adipose Nuclei	Adipose
46	chr7:110904000-110904400	Weak transcription	Aorta	Aorta
47	chr7:110904000-110906200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr7:110904200-110905000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:110904400-110905000	Enhancers	Aorta	Aorta
50	chr7:110904400-110905600	Enhancers	Duodenum Smooth Muscle	Duodenum

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