Variant report

Variant	nsv889048
Chromosome Location	chr7:111235377-111339228
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:43)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:111323962..111326043-chr7:111330961..111333909,2	MCF-7	breast:
2	chr7:111199186..111200731-chr7:111244724..111246694,2	K562	blood:
3	chr7:111296753..111298671-chr7:111300525..111303326,2	K562	blood:
4	chr7:111293955..111295853-chr7:111296098..111298925,2	K562	blood:
5	chr7:111201366..111203605-chr7:111282980..111284913,2	K562	blood:
6	chr7:111198400..111201071-chr7:111297443..111299093,2	K562	blood:
7	chr7:111320859..111323048-chr7:111329201..111331055,2	K562	blood:
8	chr7:111299093..111300961-chr7:111312313..111315147,2	K562	blood:
9	chr7:111304451..111306356-chr7:111315376..111317800,2	MCF-7	breast:
10	chr7:111265016..111267943-chr7:111268536..111270636,2	MCF-7	breast:
11	chr7:111252721..111255749-chr7:111259045..111261451,3	K562	blood:
12	chr7:111252421..111255385-chr7:111257912..111259805,2	MCF-7	breast:
13	chr7:111252421..111255385-chr7:111257912..111259805,2	MCF-7	breast:
14	chr7:111320859..111323048-chr7:111329201..111331055,2	K562	blood:
15	chr7:111284627..111287307-chr7:111300910..111302600,2	K562	blood:
16	chr7:111323962..111326043-chr7:111330961..111333909,2	MCF-7	breast:
17	chr7:111299147..111302092-chr7:111316986..111318533,2	K562	blood:
18	chr7:111309388..111312560-chr7:111313840..111315927,3	K562	blood:
19	chr7:111265016..111267943-chr7:111268536..111270636,2	MCF-7	breast:
20	chr7:111304451..111306356-chr7:111315376..111317800,2	MCF-7	breast:
21	chr7:111257306..111261237-chr7:111261907..111264448,3	K562	blood:
22	chr7:110685337..110687591-chr7:111322599..111325063,2	K562	blood:
23	chr7:111310577..111313223-chr7:111316574..111319309,2	K562	blood:
24	chr7:111321825..111324162-chr7:111332702..111335171,2	K562	blood:
25	chr7:111254948..111257286-chr7:111263356..111265549,2	K562	blood:
26	chr7:111296753..111298671-chr7:111300525..111303326,2	K562	blood:
27	chr7:111201167..111202749-chr7:111247769..111250524,2	MCF-7	breast:
28	chr7:111238331..111240393-chr7:111247235..111250162,2	K562	blood:
29	chr7:111198013..111199792-chr7:111239009..111241221,2	K562	blood:
30	chr7:111254948..111257286-chr7:111263356..111265549,2	K562	blood:
31	chr7:111328919..111331695-chr7:111335640..111337914,2	MCF-7	breast:
32	chr7:111257306..111261237-chr7:111261907..111264448,3	K562	blood:
33	chr7:111284627..111287307-chr7:111300910..111302600,2	K562	blood:
34	chr7:111293955..111295853-chr7:111296098..111298925,2	K562	blood:
35	chr7:111328919..111331695-chr7:111335640..111337914,2	MCF-7	breast:
36	chr7:111252721..111255749-chr7:111259045..111261451,3	K562	blood:
37	chr7:111238331..111240393-chr7:111247235..111250162,2	K562	blood:
38	chr7:111309388..111312560-chr7:111313840..111315927,3	K562	blood:
39	chr7:111299147..111302092-chr7:111316986..111318533,2	K562	blood:
40	chr7:111226016..111229076-chr7:111232229..111235664,3	K562	blood:
41	chr7:111321825..111324162-chr7:111332702..111335171,2	K562	blood:
42	chr7:111310577..111313223-chr7:111316574..111319309,2	K562	blood:
43	chr7:111299093..111300961-chr7:111312313..111315147,2	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
ENSG00000184903	chromatin interactions

Extended variants
information (count: 2295 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:2295 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529020144	chr7:111237915-111237916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547579467	chr7:111237933-111237934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575060853	chr7:111237951-111237952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565916373	chr7:111237994-111237995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533241157	chr7:111238029-111238030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs80186640	chr7:111238036-111238037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7341480	chr7:111238056-111238057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569941479	chr7:111238078-111238079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188751629	chr7:111238115-111238116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555480536	chr7:111238190-111238191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374002618	chr7:111238228-111238229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534809578	chr7:111238253-111238254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527935296	chr7:111238275-111238276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553137593	chr7:111238286-111238287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577846416	chr7:111238375-111238376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575292958	chr7:111238408-111238409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557590649	chr7:111238443-111238444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575848854	chr7:111238450-111238451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543375691	chr7:111238455-111238456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181358223	chr7:111238498-111238499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146663892	chr7:111238555-111238556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561545498	chr7:111238609-111238610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573763206	chr7:111238674-111238675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs954777	chr7:111238692-111238693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541153733	chr7:111238720-111238721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143832755	chr7:111238726-111238727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201852375	chr7:111238782-111238783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185634431	chr7:111238831-111238832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546409219	chr7:111238846-111238847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190144119	chr7:111238860-111238861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551298197	chr7:111238874-111238875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148138649	chr7:111238877-111238878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549084884	chr7:111238881-111238882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2613584	chr7:111238913-111238914	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs181617954	chr7:111238923-111238924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs367575562	chr7:111238937-111238938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534774496	chr7:111239020-111239021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141369638	chr7:111239030-111239031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187229293	chr7:111239062-111239063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73715219	chr7:111239078-111239079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs80220749	chr7:111239143-111239144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575859702	chr7:111239257-111239258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552009254	chr7:111239286-111239287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548095853	chr7:111239287-111239288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192158768	chr7:111239305-111239306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182280035	chr7:111239335-111239336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555319918	chr7:111239358-111239359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111287065	chr7:111239367-111239368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114424742	chr7:111239395-111239396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559452315	chr7:111239433-111239434	Weak transcription	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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111237800-111238400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr7:111238000-111239000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:111238200-111238600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr7:111238400-111251000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:111249600-111250200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr7:111274400-111275000	Enhancers	Fetal Kidney	kidney
7	chr7:111278000-111279000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:111278200-111278400	Enhancers	Fetal Stomach	stomach
9	chr7:111278400-111278800	Enhancers	Fetal Lung	lung
10	chr7:111278800-111280200	Weak transcription	Fetal Lung	lung
11	chr7:111279000-111279400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:111279400-111280800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:111280000-111280600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:111280200-111280400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:111280200-111280400	Enhancers	Fetal Lung	lung
16	chr7:111280400-111281200	Enhancers	Fetal Stomach	stomach
17	chr7:111282400-111282800	Enhancers	Spleen	Spleen
18	chr7:111287800-111288400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:111288000-111288200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:111288000-111288200	Enhancers	A549	lung
21	chr7:111288000-111288400	Enhancers	NHDF-Ad	bronchial
22	chr7:111288400-111289600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:111288400-111290400	Weak transcription	NHDF-Ad	bronchial
24	chr7:111288600-111289800	Weak transcription	A549	lung
25	chr7:111289600-111289800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:111289600-111290400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:111289800-111290200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:111289800-111290400	Enhancers	A549	lung
29	chr7:111290200-111291600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:111290400-111290800	Enhancers	Fetal Stomach	stomach
31	chr7:111290400-111290800	Enhancers	NHDF-Ad	bronchial
32	chr7:111290400-111291000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:111290400-111291000	Enhancers	Colon Smooth Muscle	Colon
34	chr7:111290400-111291000	Enhancers	Fetal Lung	lung
35	chr7:111290400-111291000	Enhancers	Stomach Mucosa	stomach
36	chr7:111290400-111291000	Enhancers	HepG2	liver
37	chr7:111290400-111291400	Flanking Active TSS	A549	lung
38	chr7:111290600-111291000	Enhancers	Fetal Muscle Leg	muscle
39	chr7:111290600-111291000	Enhancers	Dnd41	blood
40	chr7:111290600-111291400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:111290800-111294200	Weak transcription	NHDF-Ad	bronchial
42	chr7:111291000-111291600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:111291000-111303400	Weak transcription	Colon Smooth Muscle	Colon
44	chr7:111291400-111292200	Enhancers	A549	lung
45	chr7:111291400-111294200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:111291600-111291800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:111291600-111294000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:111294000-111295400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:111294200-111294600	Enhancers	NHDF-Ad	bronchial
50	chr7:111294200-111295200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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