Variant report

Variant	nsv1017470
Chromosome Location	chr7:86221308-86263909
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:86229843..86230499-chr7:86534273..86535119,3	MCF-7	breast:
2	chr7:86227396..86228184-chr7:86533852..86535050,3	MCF-7	breast:
3	chr7:86262421..86264345-chr7:86274869..86277224,2	K562	blood:
4	chr7:86227683..86228333-chr7:86444044..86444945,4	MCF-7	breast:
5	chr7:86226974..86228267-chr7:86444166..86444792,3	MCF-7	breast:
6	chr7:86262393..86264345-chr7:86273973..86277224,3	K562	blood:

Variant related genes	Relation type
ENSG00000198822	chromatin interactions

Extended variants
information (count: 372 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2102384	chr7:86229602-86229603	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144659512	chr7:86229670-86229671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542559093	chr7:86229673-86229674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560734819	chr7:86229679-86229680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566723938	chr7:86229714-86229715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75570178	chr7:86229758-86229759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564951103	chr7:86229764-86229765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538879433	chr7:86229773-86229774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532117171	chr7:86229785-86229786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550542118	chr7:86229878-86229879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562392379	chr7:86229892-86229893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530396542	chr7:86229936-86229937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577640733	chr7:86229969-86229970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538767393	chr7:86229973-86229974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73704567	chr7:86229988-86229989	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs567186071	chr7:86230027-86230028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185384730	chr7:86230049-86230050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556790190	chr7:86230071-86230072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190280695	chr7:86230074-86230075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371588117	chr7:86230130-86230131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112985977	chr7:86230206-86230207	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs570881070	chr7:86230212-86230213	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs537993362	chr7:86230216-86230217	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs141418169	chr7:86230223-86230224	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs568398504	chr7:86230240-86230241	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs535473948	chr7:86230258-86230259	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs554417312	chr7:86230276-86230277	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs150837947	chr7:86230333-86230334	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs572807770	chr7:86230369-86230370	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs10241183	chr7:86230375-86230376	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs139852682	chr7:86230378-86230379	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs576870238	chr7:86230467-86230468	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs544004124	chr7:86230473-86230474	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs561134382	chr7:86230529-86230530	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs181574704	chr7:86230606-86230607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541868325	chr7:86230642-86230643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185885483	chr7:86230667-86230668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527996992	chr7:86230675-86230676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552726141	chr7:86230720-86230721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571001298	chr7:86230727-86230728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531807611	chr7:86230793-86230794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573211999	chr7:86230827-86230828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1084096	chr7:86230839-86230840	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs565325855	chr7:86230873-86230874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568564275	chr7:86230917-86230918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145475317	chr7:86230977-86230978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553761704	chr7:86231047-86231048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532488861	chr7:86231049-86231050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566420854	chr7:86231156-86231157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147264043	chr7:86231167-86231168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86229600-86230800	Enhancers	Brain Hippocampus Middle	brain
2	chr7:86229800-86230600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:86230000-86230200	Enhancers	Brain Substantia Nigra	brain
4	chr7:86230000-86230400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:86230000-86230800	Enhancers	Brain Anterior Caudate	brain
6	chr7:86230000-86230800	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr7:86230200-86230600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr7:86230200-86230600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:86230200-86230600	Flanking Active TSS	Brain Substantia Nigra	brain
10	chr7:86230200-86231000	Enhancers	Brain Angular Gyrus	brain
11	chr7:86230200-86231600	Enhancers	Brain Cingulate Gyrus	brain
12	chr7:86230400-86230800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:86230400-86231000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:86230600-86230800	Enhancers	Brain Substantia Nigra	brain
15	chr7:86230600-86231600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:86231000-86232000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:86231000-86235000	Weak transcription	Brain Angular Gyrus	brain
18	chr7:86231600-86231800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:86232000-86232200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr7:86251600-86251800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:86251800-86252600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:86252200-86252600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:86252200-86252600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:86252200-86253000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr7:86252400-86252600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr7:86253400-86253800	Enhancers	Brain Cingulate Gyrus	brain
27	chr7:86258600-86259000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr7:86258600-86259000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr7:86258800-86259400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr7:86261600-86261800	Enhancers	Brain Hippocampus Middle	brain
31	chr7:86262000-86262200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:86262000-86263200	Weak transcription	Brain Hippocampus Middle	brain
33	chr7:86262200-86263200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:86263200-86263600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:86263200-86263600	Enhancers	Brain Hippocampus Middle	brain
36	chr7:86263200-86263600	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr7:86263200-86263800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:86263200-86263800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:86263200-86263800	Enhancers	Brain Anterior Caudate	brain
40	chr7:86263200-86263800	Enhancers	Brain Cingulate Gyrus	brain
41	chr7:86263200-86263800	Enhancers	Brain Substantia Nigra	brain
42	chr7:86263600-86266600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr7:86263600-86266800	Weak transcription	Brain Hippocampus Middle	brain
44	chr7:86263800-86268600	Weak transcription	Brain Substantia Nigra	brain
45	chr7:86263800-86268800	Weak transcription	Brain Anterior Caudate	brain
46	chr7:86263800-86268800	Weak transcription	Brain Cingulate Gyrus	brain

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