Variant report

Variant	nsv608218
Chromosome Location	chr7:111209492-111358271
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:61)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:111222849..111225723-chr7:111230601..111232352,2	K562	blood:
2	chr7:111345161..111348138-chr7:111350012..111351697,2	K562	blood:
3	chr7:111309388..111312560-chr7:111313840..111315927,3	K562	blood:
4	chr7:111328919..111331695-chr7:111335640..111337914,2	MCF-7	breast:
5	chr7:111252421..111255385-chr7:111257912..111259805,2	MCF-7	breast:
6	chr7:111304451..111306356-chr7:111315376..111317800,2	MCF-7	breast:
7	chr7:111226016..111229076-chr7:111232229..111235664,3	K562	blood:
8	chr7:111222849..111225723-chr7:111230601..111232352,2	K562	blood:
9	chr7:111226200..111228452-chr7:111228554..111231372,2	K562	blood:
10	chr7:111138086..111139591-chr7:111219192..111221961,2	MCF-7	breast:
11	chr7:111204432..111206292-chr7:111209030..111211645,2	K562	blood:
12	chr7:111254948..111257286-chr7:111263356..111265549,2	K562	blood:
13	chr7:111227327..111229119-chr7:111232502..111234968,2	K562	blood:
14	chr7:111257306..111261237-chr7:111261907..111264448,3	K562	blood:
15	chr7:111299147..111302092-chr7:111316986..111318533,2	K562	blood:
16	chr7:110685337..110687591-chr7:111322599..111325063,2	K562	blood:
17	chr7:111265016..111267943-chr7:111268536..111270636,2	MCF-7	breast:
18	chr7:111299093..111300961-chr7:111312313..111315147,2	K562	blood:
19	chr7:111201366..111203605-chr7:111282980..111284913,2	K562	blood:
20	chr7:111296753..111298671-chr7:111300525..111303326,2	K562	blood:
21	chr7:111198400..111201071-chr7:111297443..111299093,2	K562	blood:
22	chr7:111252421..111255385-chr7:111257912..111259805,2	MCF-7	breast:
23	chr7:111227327..111229119-chr7:111232502..111234968,2	K562	blood:
24	chr7:111293955..111295853-chr7:111296098..111298925,2	K562	blood:
25	chr7:111343971..111346661-chr7:111349805..111351512,2	K562	blood:
26	chr7:111320859..111323048-chr7:111329201..111331055,2	K562	blood:
27	chr7:111304451..111306356-chr7:111315376..111317800,2	MCF-7	breast:
28	chr7:111226200..111228452-chr7:111228554..111231372,2	K562	blood:
29	chr7:111310577..111313223-chr7:111316574..111319309,2	K562	blood:
30	chr7:111309388..111312560-chr7:111313840..111315927,3	K562	blood:
31	chr7:111343971..111346661-chr7:111349805..111351512,2	K562	blood:
32	chr7:111284627..111287307-chr7:111300910..111302600,2	K562	blood:
33	chr7:111320859..111323048-chr7:111329201..111331055,2	K562	blood:
34	chr7:111284627..111287307-chr7:111300910..111302600,2	K562	blood:
35	chr7:111201167..111202749-chr7:111247769..111250524,2	MCF-7	breast:
36	chr7:111198013..111199792-chr7:111239009..111241221,2	K562	blood:
37	chr7:111328919..111331695-chr7:111335640..111337914,2	MCF-7	breast:
38	chr7:111183053..111185306-chr7:111210487..111212870,2	K562	blood:
39	chr7:111323962..111326043-chr7:111330961..111333909,2	MCF-7	breast:
40	chr7:111310577..111313223-chr7:111316574..111319309,2	K562	blood:
41	chr7:111299147..111302092-chr7:111316986..111318533,2	K562	blood:
42	chr7:111348035..111349791-chr7:111351253..111353124,2	MCF-7	breast:
43	chr7:111199186..111200731-chr7:111244724..111246694,2	K562	blood:
44	chr7:111345161..111348138-chr7:111350012..111351697,2	K562	blood:
45	chr7:111348035..111349791-chr7:111351253..111353124,2	MCF-7	breast:
46	chr7:111252721..111255749-chr7:111259045..111261451,3	K562	blood:
47	chr7:111238331..111240393-chr7:111247235..111250162,2	K562	blood:
48	chr7:111299093..111300961-chr7:111312313..111315147,2	K562	blood:
49	chr7:111257306..111261237-chr7:111261907..111264448,3	K562	blood:
50	chr7:111252721..111255749-chr7:111259045..111261451,3	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
ENSG00000184903	chromatin interactions

Extended variants
information (count: 2984 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2984 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1077030	chr7:111209492-111209493	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530314726	chr7:111209521-111209522	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562359118	chr7:111209564-111209565	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs140640560	chr7:111209566-111209567	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs145822552	chr7:111209606-111209607	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs576021257	chr7:111209648-111209649	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs567156139	chr7:111209656-111209657	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534688520	chr7:111209700-111209701	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs9986835	chr7:111209730-111209731	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs553122223	chr7:111209750-111209751	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs577900385	chr7:111209771-111209772	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs192436261	chr7:111209784-111209785	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs112302210	chr7:111209814-111209815	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs535480181	chr7:111209883-111209884	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs542568847	chr7:111209897-111209898	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs561288276	chr7:111209938-111209939	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs184833181	chr7:111209957-111209958	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs534368188	chr7:111209966-111209967	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs540687096	chr7:111209967-111209968	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs559103605	chr7:111209997-111209998	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs75161842	chr7:111210050-111210051	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs77857629	chr7:111210051-111210052	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs565071628	chr7:111210126-111210127	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs2001224	chr7:111210156-111210157	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs78838061	chr7:111210182-111210183	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs188429361	chr7:111210235-111210236	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs149160741	chr7:111210247-111210248	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs143304837	chr7:111210248-111210249	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs550379814	chr7:111210251-111210252	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs567221279	chr7:111210259-111210260	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs528110871	chr7:111210266-111210267	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs546699408	chr7:111210288-111210289	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs571414023	chr7:111210293-111210294	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs561609946	chr7:111210296-111210297	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs372177564	chr7:111210338-111210339	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs191400402	chr7:111210373-111210374	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs184964146	chr7:111210385-111210386	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs148298395	chr7:111210425-111210426	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs568960388	chr7:111210455-111210456	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs111364770	chr7:111210463-111210464	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs536518215	chr7:111210494-111210495	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs77531788	chr7:111210495-111210496	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs573174948	chr7:111210506-111210507	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs374955200	chr7:111210517-111210518	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs540256316	chr7:111210538-111210539	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs141437485	chr7:111210541-111210542	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs115539041	chr7:111210576-111210577	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs6964424	chr7:111210636-111210637	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs562717039	chr7:111210652-111210653	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs530250111	chr7:111210679-111210680	ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111208600-111210000	Enhancers	GM12878-XiMat	blood
2	chr7:111210600-111210800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:111226800-111227800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr7:111227000-111228400	Enhancers	Brain Germinal Matrix	brain
5	chr7:111227000-111228600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:111227000-111228800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:111227800-111228600	Enhancers	A549	lung
8	chr7:111237800-111238400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:111238000-111239000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:111238200-111238600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr7:111238400-111251000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:111249600-111250200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr7:111274400-111275000	Enhancers	Fetal Kidney	kidney
14	chr7:111278000-111279000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:111278200-111278400	Enhancers	Fetal Stomach	stomach
16	chr7:111278400-111278800	Enhancers	Fetal Lung	lung
17	chr7:111278800-111280200	Weak transcription	Fetal Lung	lung
18	chr7:111279000-111279400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:111279400-111280800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:111280000-111280600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:111280200-111280400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:111280200-111280400	Enhancers	Fetal Lung	lung
23	chr7:111280400-111281200	Enhancers	Fetal Stomach	stomach
24	chr7:111282400-111282800	Enhancers	Spleen	Spleen
25	chr7:111287800-111288400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:111288000-111288200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:111288000-111288200	Enhancers	A549	lung
28	chr7:111288000-111288400	Enhancers	NHDF-Ad	bronchial
29	chr7:111288400-111289600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:111288400-111290400	Weak transcription	NHDF-Ad	bronchial
31	chr7:111288600-111289800	Weak transcription	A549	lung
32	chr7:111289600-111289800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:111289600-111290400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:111289800-111290200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:111289800-111290400	Enhancers	A549	lung
36	chr7:111290200-111291600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:111290400-111290800	Enhancers	Fetal Stomach	stomach
38	chr7:111290400-111290800	Enhancers	NHDF-Ad	bronchial
39	chr7:111290400-111291000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:111290400-111291000	Enhancers	Colon Smooth Muscle	Colon
41	chr7:111290400-111291000	Enhancers	Fetal Lung	lung
42	chr7:111290400-111291000	Enhancers	Stomach Mucosa	stomach
43	chr7:111290400-111291000	Enhancers	HepG2	liver
44	chr7:111290400-111291400	Flanking Active TSS	A549	lung
45	chr7:111290600-111291000	Enhancers	Fetal Muscle Leg	muscle
46	chr7:111290600-111291000	Enhancers	Dnd41	blood
47	chr7:111290600-111291400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:111290800-111294200	Weak transcription	NHDF-Ad	bronchial
49	chr7:111291000-111291600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:111291000-111303400	Weak transcription	Colon Smooth Muscle	Colon

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