Variant report

Variant	nsv1018312
Chromosome Location	chr7:110842924-111012486
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:139)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:139 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr7:110946449..110947994-chr7:110949688..110952187,2	K562	blood:
2	chr7:110994535..110996072-chr7:110997457..110999303,2	K562	blood:
3	chr7:110729634..110730189-chr7:110952732..110953606,2	MCF-7	breast:
4	chr7:110846458..110850024-chr7:110851219..110853852,3	MCF-7	breast:
5	chr7:110934094..110935861-chr7:110939196..110941083,3	K562	blood:
6	chr7:110994957..110999323-chr7:111001198..111006593,6	K562	blood:
7	chr7:110845330..110847607-chr7:110862386..110864699,2	K562	blood:
8	chr7:110958175..110961174-chr7:110967524..110969443,2	K562	blood:
9	chr7:110843078..110846205-chr7:110849161..110854141,4	K562	blood:
10	chr7:110978869..110982048-chr7:110982767..110985792,3	K562	blood:
11	chr7:110962126..110964268-chr7:110964422..110967257,2	K562	blood:
12	chr7:110958175..110962470-chr7:110967524..110970471,4	K562	blood:
13	chr7:110867615..110869914-chr7:110870998..110874841,5	K562	blood:
14	chr7:110978869..110982048-chr7:110982767..110985792,3	K562	blood:
15	chr7:110959106..110960834-chr7:110964696..110967313,2	K562	blood:
16	chr7:110970635..110973843-chr7:110975141..110978905,5	K562	blood:
17	chr7:110836787..110838968-chr7:110842164..110843669,2	K562	blood:
18	chr7:110846405..110848807-chr7:110859320..110861910,2	K562	blood:
19	chr7:110846499..110848352-chr7:110867218..110869031,2	MCF-7	breast:
20	chr7:110922885..110927148-chr7:110927337..110932171,6	K562	blood:
21	chr7:110989989..110992007-chr7:110993979..110995982,2	K562	blood:
22	chr7:110969454..110970228-chr7:111375556..111376647,3	MCF-7	breast:
23	chr7:110924432..110929578-chr7:110932859..110937635,6	K562	blood:
24	chr7:110846405..110848807-chr7:110859320..110861910,2	K562	blood:
25	chr7:110989989..110992007-chr7:110993979..110995982,2	K562	blood:
26	chr7:110924432..110929578-chr7:110932859..110937635,6	K562	blood:
27	chr7:110953570..110955733-chr7:111376151..111377847,2	MCF-7	breast:
28	chr7:110970018..110971875-chr7:110977199..110979815,2	K562	blood:
29	chr7:110948192..110950310-chr7:110952497..110954721,2	K562	blood:
30	chr7:110941321..110943443-chr7:111373654..111375242,2	K562	blood:
31	chr7:110985007..110987369-chr7:110994363..110996141,2	K562	blood:
32	chr7:111003207..111005251-chr7:111008050..111010228,2	K562	blood:
33	chr7:110858379..110861216-chr7:110867269..110869936,2	MCF-7	breast:
34	chr7:110991909..110993941-chr7:110997470..110999246,2	K562	blood:
35	chr7:110827684..110829363-chr7:110849997..110851639,2	K562	blood:
36	chr7:110963413..110966213-chr7:110967085..110969024,2	K562	blood:
37	chr7:110958175..110961174-chr7:110967524..110969443,2	K562	blood:
38	chr7:110962569..110964668-chr7:110968085..110971412,3	K562	blood:
39	chr7:110934094..110935861-chr7:110939196..110941083,3	K562	blood:
40	chr7:110997175..111000339-chr7:111001551..111003490,3	K562	blood:
41	chr7:110941905..110944454-chr7:110944620..110946786,2	K562	blood:
42	chr7:110864193..110867019-chr7:110872692..110875184,2	K562	blood:
43	chr7:110959106..110960834-chr7:110964696..110967313,2	K562	blood:
44	chr7:110959334..110960882-chr7:110965813..110967484,2	K562	blood:
45	chr7:110941905..110944454-chr7:110944620..110946786,2	K562	blood:
46	chr7:110890356..110892390-chr7:110893967..110896589,2	K562	blood:
47	chr7:110901427..110902958-chr7:110904579..110907166,2	MCF-7	breast:
48	chr7:110860948..110867491-chr7:110867576..110875570,9	K562	blood:
49	chr7:110875743..110879019-chr7:110880390..110884102,5	K562	blood:
50	chr7:110969503..110970311-chr7:111375483..111376413,3	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: 5679 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:5679 , 50 per page) page: 1 2 3 4 5 6 7 ... 114

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562786844	chr7:110842969-110842970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116962708	chr7:110843017-110843018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565633881	chr7:110843027-110843028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534241135	chr7:110843030-110843031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547665347	chr7:110843032-110843033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35391840	chr7:110843046-110843047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567557183	chr7:110843072-110843073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183845359	chr7:110843102-110843103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375986265	chr7:110843107-110843108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530374647	chr7:110843183-110843184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536440273	chr7:110843186-110843187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556666519	chr7:110843214-110843215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368590486	chr7:110843217-110843218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542048445	chr7:110843246-110843247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542454814	chr7:110843263-110843264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576464189	chr7:110843277-110843278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369052549	chr7:110843320-110843321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75406781	chr7:110843333-110843334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558696751	chr7:110843452-110843453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148270163	chr7:110843515-110843516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560450343	chr7:110843526-110843527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527860630	chr7:110843527-110843528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541371293	chr7:110843580-110843581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548068611	chr7:110843586-110843587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377694588	chr7:110843590-110843591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74866197	chr7:110843596-110843597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543643740	chr7:110843610-110843611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187975965	chr7:110843613-110843614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199683002	chr7:110843625-110843626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371185724	chr7:110843626-110843627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550342344	chr7:110843627-110843628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1053147	chr7:110843737-110843738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1053146	chr7:110843738-110843739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552434739	chr7:110843759-110843760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190716294	chr7:110843769-110843770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs214455	chr7:110843795-110843796	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs547726193	chr7:110843926-110843927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183324312	chr7:110843960-110843961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111601027	chr7:110844023-110844024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139163766	chr7:110844030-110844031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139265991	chr7:110844055-110844056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570197425	chr7:110844056-110844057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186903280	chr7:110844060-110844061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375645703	chr7:110844097-110844098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145092958	chr7:110844141-110844142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535012794	chr7:110844220-110844221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554955033	chr7:110844227-110844228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147167983	chr7:110844285-110844286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116155700	chr7:110844286-110844287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543665226	chr7:110844287-110844288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Dyslexia	22102821	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Schizophrenia	23813976	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	21509527	CNVD
Glioma	20126413	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:727 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110838200-110846600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:110838800-110864000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:110842600-110852000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:110844400-110853000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:110845800-110846000	Enhancers	Left Ventricle	heart
6	chr7:110846000-110864000	Weak transcription	Left Ventricle	heart
7	chr7:110848400-110853000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:110850000-110851800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr7:110850400-110851800	Enhancers	Osteobl	bone
10	chr7:110850800-110851400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:110850800-110851600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:110850800-110851600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:110851000-110851800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:110851000-110851800	Enhancers	HUVEC	blood vessel
15	chr7:110851200-110851600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:110851200-110851600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:110851200-110851600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:110851200-110851600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:110851200-110851600	Enhancers	NH-A	brain
20	chr7:110851600-110854800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:110852000-110852400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
22	chr7:110852000-110853000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:110852000-110853400	Weak transcription	Pancreas	Pancrea
24	chr7:110852400-110853000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:110852400-110853200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:110852400-110853400	Weak transcription	Fetal Intestine Small	intestine
27	chr7:110852800-110853800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr7:110853000-110853200	Enhancers	Spleen	Spleen
29	chr7:110853000-110853400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:110853000-110853600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:110853000-110853600	ZNF genes & repeats	Fetal Stomach	stomach
32	chr7:110853000-110853800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:110853000-110853800	Enhancers	Placenta	Placenta
34	chr7:110853000-110854000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:110853200-110853600	ZNF genes & repeats	Lung	lung
36	chr7:110853200-110853800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:110853200-110853800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr7:110853200-110853800	ZNF genes & repeats	Spleen	Spleen
39	chr7:110853400-110853600	Genic enhancers	Pancreas	Pancrea
40	chr7:110853400-110853800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:110853400-110853800	ZNF genes & repeats	Fetal Intestine Small	intestine
42	chr7:110853600-110854400	Weak transcription	Pancreas	Pancrea
43	chr7:110853600-110855000	Weak transcription	Fetal Stomach	stomach
44	chr7:110853600-110857000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:110853800-110854200	Weak transcription	Spleen	Spleen
46	chr7:110853800-110854600	Weak transcription	Placenta	Placenta
47	chr7:110853800-110854800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:110853800-110854800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:110853800-110857000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr7:110854000-110854200	Weak transcription	Lung	lung

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