Variant report

Variant	nsv1028983
Chromosome Location	chr7:41165668-41635954
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:76)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:76 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:41598809..41599693-chr7:41612730..41613232,2	MCF-7	breast:
2	chr7:41468441..41470450-chr7:41472166..41475031,2	MCF-7	breast:
3	chr7:41613092..41615688-chr7:41616571..41618247,2	MCF-7	breast:
4	chr7:41380028..41382375-chr7:41390900..41393107,2	K562	blood:
5	chr7:41255712..41257388-chr7:41260723..41262857,2	MCF-7	breast:
6	chr7:41532708..41534884-chr7:41534973..41537660,2	K562	blood:
7	chr7:41277967..41280193-chr7:41283626..41286439,2	MCF-7	breast:
8	chr7:41476490..41478487-chr7:41479526..41481927,2	K562	blood:
9	chr7:41393950..41396388-chr7:41398772..41400642,2	K562	blood:
10	chr7:41393950..41396388-chr7:41398772..41400642,2	K562	blood:
11	chr7:41604516..41606210-chr7:41611108..41613755,3	MCF-7	breast:
12	chr7:41534805..41537171-chr7:41540875..41543375,2	K562	blood:
13	chr7:41247142..41249003-chr7:41250811..41252742,2	MCF-7	breast:
14	chr7:41417671..41418189-chr7:41612493..41613331,2	MCF-7	breast:
15	chr7:41261382..41263717-chr7:41269869..41272043,2	MCF-7	breast:
16	chr7:41422116..41424583-chr7:41428075..41429621,2	MCF-7	breast:
17	chr7:41248747..41250895-chr7:41255395..41257118,2	K562	blood:
18	chr7:41621348..41623332-chr7:41625696..41628384,2	MCF-7	breast:
19	chr7:41417671..41418189-chr7:41612493..41613331,2	MCF-7	breast:
20	chr7:41162891..41165369-chr7:41187985..41190735,2	MCF-7	breast:
21	chr7:41200450..41202683-chr7:41278426..41280923,2	MCF-7	breast:
22	chr7:41604516..41606210-chr7:41611108..41613755,3	MCF-7	breast:
23	chr7:41285026..41287975-chr7:41289569..41291440,2	K562	blood:
24	chr7:41273144..41275443-chr7:41278938..41281614,2	MCF-7	breast:
25	chr7:41218957..41220551-chr7:41225375..41228012,2	MCF-7	breast:
26	chr7:41183525..41185543-chr7:41189175..41191996,2	K562	blood:
27	chr7:41486798..41488519-chr7:41490161..41492000,2	MCF-7	breast:
28	chr7:41621348..41623332-chr7:41625696..41628384,2	MCF-7	breast:
29	chr7:41285026..41287975-chr7:41289569..41291440,2	K562	blood:
30	chr7:41247142..41249003-chr7:41250811..41252742,2	MCF-7	breast:
31	chr7:41203420..41205145-chr7:41207158..41208668,2	MCF-7	breast:
32	chr7:41380028..41382375-chr7:41390900..41393107,2	K562	blood:
33	chr7:41255712..41257388-chr7:41260723..41262857,2	MCF-7	breast:
34	chr7:41228185..41230237-chr7:41263840..41265939,2	MCF-7	breast:
35	chr7:41613123..41615366-chr7:41735822..41737353,2	MCF-7	breast:
36	chr7:41280935..41281463-chr7:41744433..41745296,2	MCF-7	breast:
37	chr11:17812849..17813393-chr7:41632995..41633624,2	MCF-7	breast:
38	chr7:41613092..41615688-chr7:41616571..41618247,2	MCF-7	breast:
39	chr7:41374040..41375690-chr7:41377626..41380344,2	K562	blood:
40	chr7:41244996..41246544-chr7:41248454..41251306,2	MCF-7	breast:
41	chr7:41478112..41478942-chr7:41735738..41736388,2	MCF-7	breast:
42	chr7:41598809..41599693-chr7:41612730..41613232,2	MCF-7	breast:
43	chr7:41486798..41488519-chr7:41490161..41492000,2	MCF-7	breast:
44	chr7:41423583..41425738-chr7:41458745..41461522,2	MCF-7	breast:
45	chr7:41196553..41198239-chr7:41199242..41201799,2	K562	blood:
46	chr21:41756953..41758689-chr7:41322091..41324505,2	MCF-7	breast:
47	chr7:41218957..41220551-chr7:41225375..41228012,2	MCF-7	breast:
48	chr7:41261382..41263717-chr7:41269869..41272043,2	MCF-7	breast:
49	chr7:41244996..41246544-chr7:41248454..41251306,2	MCF-7	breast:
50	chr7:41228185..41230237-chr7:41263840..41265939,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C7orf10-1	chr7:41172822-41173105	XLOC_006059
2	lnc-C7orf10-1	chr7:41170270-41170447	XLOC_006059

No data

Variant related genes	Relation type
ENSG00000236310	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000122641	chromatin interactions

Extended variants
information (count: 17489 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:17489 , 50 per page) page: 1 2 3 4 5 6 7 ... 350

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540237240	chr7:41165759-41165760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555845875	chr7:41165787-41165788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7805795	chr7:41165802-41165803	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs76275363	chr7:41165830-41165831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562792132	chr7:41165876-41165877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs202014855	chr7:41165887-41165888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7790556	chr7:41165921-41165922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs545331093	chr7:41165922-41165923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560603429	chr7:41165925-41165926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563467905	chr7:41165964-41165965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528109065	chr7:41165995-41165996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546241977	chr7:41166006-41166007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568155365	chr7:41166020-41166021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528947405	chr7:41166031-41166032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550691431	chr7:41166032-41166033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143316191	chr7:41166033-41166034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185203642	chr7:41166055-41166056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530619861	chr7:41166056-41166057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189624948	chr7:41166092-41166093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182321561	chr7:41166152-41166153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377240462	chr7:41166158-41166159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545839148	chr7:41166200-41166201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534208874	chr7:41166233-41166234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555429501	chr7:41166252-41166253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368946863	chr7:41166270-41166271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117122349	chr7:41166286-41166287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146697066	chr7:41166310-41166311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140270164	chr7:41166329-41166330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6978132	chr7:41166344-41166345	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs10248404	chr7:41166348-41166349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545171158	chr7:41166350-41166351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560853120	chr7:41166416-41166417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73690465	chr7:41166417-41166418	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs28427321	chr7:41166425-41166426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540224678	chr7:41166434-41166435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187341596	chr7:41166435-41166436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528885427	chr7:41166444-41166445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201857179	chr7:41166515-41166516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550729647	chr7:41166535-41166536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562547026	chr7:41166577-41166578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191608347	chr7:41166587-41166588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs137897278	chr7:41166590-41166591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566763746	chr7:41166598-41166599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183466211	chr7:41166622-41166623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549252130	chr7:41166641-41166642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6958423	chr7:41166649-41166650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs374981594	chr7:41166656-41166657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6958959	chr7:41166707-41166708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs556262978	chr7:41166708-41166709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188055708	chr7:41166755-41166756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1920 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:41129200-41175200	Weak transcription	Aorta	Aorta
2	chr7:41163200-41167600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr7:41164200-41165800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:41165600-41165800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:41165800-41166200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:41166200-41166400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:41167200-41169400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:41167600-41169800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr7:41167600-41174400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:41168200-41175600	Enhancers	Fetal Brain Male	brain
11	chr7:41168600-41170400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:41169000-41170200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:41169000-41170200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr7:41169000-41170400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:41169000-41170600	Enhancers	Brain Germinal Matrix	brain
16	chr7:41169000-41175400	Enhancers	Fetal Brain Female	brain
17	chr7:41169200-41171200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr7:41169400-41170000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:41169400-41170200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr7:41169400-41170600	Enhancers	Adipose Nuclei	Adipose
21	chr7:41169600-41169800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:41169600-41169800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:41169600-41169800	Enhancers	Pancreas	Pancrea
24	chr7:41169600-41170000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr7:41169600-41170000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr7:41169600-41170000	Enhancers	Brain Hippocampus Middle	brain
27	chr7:41169600-41170200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:41169600-41170600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr7:41169600-41170600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:41169600-41171000	Enhancers	Ovary	ovary
31	chr7:41169600-41171800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:41169800-41170400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr7:41169800-41170400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr7:41169800-41170600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:41169800-41170600	Enhancers	Brain Anterior Caudate	brain
36	chr7:41169800-41171200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:41169800-41171400	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr7:41169800-41175200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:41170000-41170200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:41170000-41172200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr7:41170000-41173400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:41170000-41174400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:41170200-41170600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:41170400-41170600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:41170400-41170800	Enhancers	Fetal Muscle Leg	muscle
46	chr7:41170400-41173400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:41170400-41173800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr7:41170400-41173800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:41170600-41170800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:41170600-41173200	Weak transcription	Brain Germinal Matrix	brain

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