Variant report

Variant	nsv608222
Chromosome Location	chr7:111228173-111365743
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:58)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:58 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:111226016..111229076-chr7:111232229..111235664,3	K562	blood:
2	chr7:111284627..111287307-chr7:111300910..111302600,2	K562	blood:
3	chr7:111345161..111348138-chr7:111350012..111351697,2	K562	blood:
4	chr7:111343971..111346661-chr7:111349805..111351512,2	K562	blood:
5	chr7:111320859..111323048-chr7:111329201..111331055,2	K562	blood:
6	chr7:111348035..111349791-chr7:111351253..111353124,2	MCF-7	breast:
7	chr7:111198013..111199792-chr7:111239009..111241221,2	K562	blood:
8	chr7:111343971..111346661-chr7:111349805..111351512,2	K562	blood:
9	chr7:111198400..111201071-chr7:111297443..111299093,2	K562	blood:
10	chr7:111293955..111295853-chr7:111296098..111298925,2	K562	blood:
11	chr7:111257306..111261237-chr7:111261907..111264448,3	K562	blood:
12	chr7:111361301..111364499-chr7:111364641..111368279,4	K562	blood:
13	chr7:111226016..111229076-chr7:111232229..111235664,3	K562	blood:
14	chr7:111323962..111326043-chr7:111330961..111333909,2	MCF-7	breast:
15	chr7:111252721..111255749-chr7:111259045..111261451,3	K562	blood:
16	chr7:111310577..111313223-chr7:111316574..111319309,2	K562	blood:
17	chr7:111254948..111257286-chr7:111263356..111265549,2	K562	blood:
18	chr7:111309388..111312560-chr7:111313840..111315927,3	K562	blood:
19	chr7:111320859..111323048-chr7:111329201..111331055,2	K562	blood:
20	chr7:111254948..111257286-chr7:111263356..111265549,2	K562	blood:
21	chr7:111310577..111313223-chr7:111316574..111319309,2	K562	blood:
22	chr7:111304451..111306356-chr7:111315376..111317800,2	MCF-7	breast:
23	chr7:111252421..111255385-chr7:111257912..111259805,2	MCF-7	breast:
24	chr7:111361301..111364499-chr7:111364641..111368279,4	K562	blood:
25	chr7:111238331..111240393-chr7:111247235..111250162,2	K562	blood:
26	chr7:111296753..111298671-chr7:111300525..111303326,2	K562	blood:
27	chr7:111293955..111295853-chr7:111296098..111298925,2	K562	blood:
28	chr7:111299093..111300961-chr7:111312313..111315147,2	K562	blood:
29	chr7:111265016..111267943-chr7:111268536..111270636,2	MCF-7	breast:
30	chr7:111362538..111364445-chr7:111371666..111373265,2	K562	blood:
31	chr7:111328919..111331695-chr7:111335640..111337914,2	MCF-7	breast:
32	chr7:111323962..111326043-chr7:111330961..111333909,2	MCF-7	breast:
33	chr7:111227327..111229119-chr7:111232502..111234968,2	K562	blood:
34	chr7:111299147..111302092-chr7:111316986..111318533,2	K562	blood:
35	chr7:111238331..111240393-chr7:111247235..111250162,2	K562	blood:
36	chr7:111296753..111298671-chr7:111300525..111303326,2	K562	blood:
37	chr7:111199186..111200731-chr7:111244724..111246694,2	K562	blood:
38	chr7:111328919..111331695-chr7:111335640..111337914,2	MCF-7	breast:
39	chr7:111321825..111324162-chr7:111332702..111335171,2	K562	blood:
40	chr7:111201366..111203605-chr7:111282980..111284913,2	K562	blood:
41	chr7:111309388..111312560-chr7:111313840..111315927,3	K562	blood:
42	chr7:111227327..111229119-chr7:111232502..111234968,2	K562	blood:
43	chr7:111284627..111287307-chr7:111300910..111302600,2	K562	blood:
44	chr7:111265016..111267943-chr7:111268536..111270636,2	MCF-7	breast:
45	chr7:110685337..110687591-chr7:111322599..111325063,2	K562	blood:
46	chr7:111321825..111324162-chr7:111332702..111335171,2	K562	blood:
47	chr7:111222849..111225723-chr7:111230601..111232352,2	K562	blood:
48	chr7:111252721..111255749-chr7:111259045..111261451,3	K562	blood:
49	chr7:111226200..111228452-chr7:111228554..111231372,2	K562	blood:
50	chr7:111257306..111261237-chr7:111261907..111264448,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRN3-2	chr7:111246670-111249064	ucscGeneNc_uc003vfz_2
2	lnc-LRRN3-2	chr7:111235830-111235905	ucscGeneNc_uc003vfz_2

No data

Variant related genes	Relation type
ENSG00000128512	chromatin interactions
ENSG00000184903	chromatin interactions

Extended variants
information (count: 3011 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:3011 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17158652	chr7:111228173-111228174	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371923149	chr7:111228191-111228192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544943607	chr7:111228197-111228198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530484835	chr7:111228245-111228246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546892526	chr7:111228255-111228256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550308170	chr7:111228273-111228274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575339817	chr7:111228286-111228287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372147576	chr7:111228297-111228298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542354126	chr7:111228309-111228310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189103318	chr7:111228330-111228331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572860088	chr7:111228336-111228337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540373466	chr7:111228383-111228384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550564595	chr7:111228398-111228399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143074136	chr7:111228416-111228417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114218224	chr7:111228430-111228431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562524161	chr7:111228447-111228448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs386716858	chr7:111228448-111228449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs151171630	chr7:111228449-111228450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs16873288	chr7:111228478-111228479	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs534038566	chr7:111228505-111228506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552709937	chr7:111228512-111228513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140043702	chr7:111228566-111228567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557253866	chr7:111228571-111228572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556942985	chr7:111228578-111228579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575301552	chr7:111228650-111228651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569359474	chr7:111228664-111228665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554269276	chr7:111228668-111228669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536367430	chr7:111228675-111228676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572865665	chr7:111228722-111228723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2906623	chr7:111228739-111228740	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs529020144	chr7:111237915-111237916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547579467	chr7:111237933-111237934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575060853	chr7:111237951-111237952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565916373	chr7:111237994-111237995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533241157	chr7:111238029-111238030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs80186640	chr7:111238036-111238037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7341480	chr7:111238056-111238057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569941479	chr7:111238078-111238079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188751629	chr7:111238115-111238116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555480536	chr7:111238190-111238191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374002618	chr7:111238228-111238229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534809578	chr7:111238253-111238254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527935296	chr7:111238275-111238276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553137593	chr7:111238286-111238287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577846416	chr7:111238375-111238376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575292958	chr7:111238408-111238409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557590649	chr7:111238443-111238444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575848854	chr7:111238450-111238451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543375691	chr7:111238455-111238456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181358223	chr7:111238498-111238499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Autism	20841430	CNVD
Autism	20685689	CNVD
Cancer	20164919	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111227000-111228400	Enhancers	Brain Germinal Matrix	brain
2	chr7:111227000-111228600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:111227000-111228800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:111227800-111228600	Enhancers	A549	lung
5	chr7:111237800-111238400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:111238000-111239000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:111238200-111238600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr7:111238400-111251000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:111249600-111250200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr7:111274400-111275000	Enhancers	Fetal Kidney	kidney
11	chr7:111278000-111279000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:111278200-111278400	Enhancers	Fetal Stomach	stomach
13	chr7:111278400-111278800	Enhancers	Fetal Lung	lung
14	chr7:111278800-111280200	Weak transcription	Fetal Lung	lung
15	chr7:111279000-111279400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:111279400-111280800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:111280000-111280600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:111280200-111280400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:111280200-111280400	Enhancers	Fetal Lung	lung
20	chr7:111280400-111281200	Enhancers	Fetal Stomach	stomach
21	chr7:111282400-111282800	Enhancers	Spleen	Spleen
22	chr7:111287800-111288400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:111288000-111288200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:111288000-111288200	Enhancers	A549	lung
25	chr7:111288000-111288400	Enhancers	NHDF-Ad	bronchial
26	chr7:111288400-111289600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:111288400-111290400	Weak transcription	NHDF-Ad	bronchial
28	chr7:111288600-111289800	Weak transcription	A549	lung
29	chr7:111289600-111289800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:111289600-111290400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:111289800-111290200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:111289800-111290400	Enhancers	A549	lung
33	chr7:111290200-111291600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:111290400-111290800	Enhancers	Fetal Stomach	stomach
35	chr7:111290400-111290800	Enhancers	NHDF-Ad	bronchial
36	chr7:111290400-111291000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:111290400-111291000	Enhancers	Colon Smooth Muscle	Colon
38	chr7:111290400-111291000	Enhancers	Fetal Lung	lung
39	chr7:111290400-111291000	Enhancers	Stomach Mucosa	stomach
40	chr7:111290400-111291000	Enhancers	HepG2	liver
41	chr7:111290400-111291400	Flanking Active TSS	A549	lung
42	chr7:111290600-111291000	Enhancers	Fetal Muscle Leg	muscle
43	chr7:111290600-111291000	Enhancers	Dnd41	blood
44	chr7:111290600-111291400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:111290800-111294200	Weak transcription	NHDF-Ad	bronchial
46	chr7:111291000-111291600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:111291000-111303400	Weak transcription	Colon Smooth Muscle	Colon
48	chr7:111291400-111292200	Enhancers	A549	lung
49	chr7:111291400-111294200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:111291600-111291800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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