Variant report

Variant	nsv1017906
Chromosome Location	chr7:111284149-111359000
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:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:111296753..111298671-chr7:111300525..111303326,2	K562	blood:
2	chr7:111299093..111300961-chr7:111312313..111315147,2	K562	blood:
3	chr7:111293955..111295853-chr7:111296098..111298925,2	K562	blood:
4	chr7:111323962..111326043-chr7:111330961..111333909,2	MCF-7	breast:
5	chr7:111284627..111287307-chr7:111300910..111302600,2	K562	blood:
6	chr7:110685337..110687591-chr7:111322599..111325063,2	K562	blood:
7	chr7:111321825..111324162-chr7:111332702..111335171,2	K562	blood:
8	chr7:111348035..111349791-chr7:111351253..111353124,2	MCF-7	breast:
9	chr7:111320859..111323048-chr7:111329201..111331055,2	K562	blood:
10	chr7:111284627..111287307-chr7:111300910..111302600,2	K562	blood:
11	chr7:111348035..111349791-chr7:111351253..111353124,2	MCF-7	breast:
12	chr7:111323962..111326043-chr7:111330961..111333909,2	MCF-7	breast:
13	chr7:111304451..111306356-chr7:111315376..111317800,2	MCF-7	breast:
14	chr7:111343971..111346661-chr7:111349805..111351512,2	K562	blood:
15	chr7:111345161..111348138-chr7:111350012..111351697,2	K562	blood:
16	chr7:111304451..111306356-chr7:111315376..111317800,2	MCF-7	breast:
17	chr7:111310577..111313223-chr7:111316574..111319309,2	K562	blood:
18	chr7:111320859..111323048-chr7:111329201..111331055,2	K562	blood:
19	chr7:111299147..111302092-chr7:111316986..111318533,2	K562	blood:
20	chr7:111328919..111331695-chr7:111335640..111337914,2	MCF-7	breast:
21	chr7:111328919..111331695-chr7:111335640..111337914,2	MCF-7	breast:
22	chr7:111343971..111346661-chr7:111349805..111351512,2	K562	blood:
23	chr7:111299147..111302092-chr7:111316986..111318533,2	K562	blood:
24	chr7:111321825..111324162-chr7:111332702..111335171,2	K562	blood:
25	chr7:111345161..111348138-chr7:111350012..111351697,2	K562	blood:
26	chr7:111299093..111300961-chr7:111312313..111315147,2	K562	blood:
27	chr7:111309388..111312560-chr7:111313840..111315927,3	K562	blood:
28	chr7:111310577..111313223-chr7:111316574..111319309,2	K562	blood:
29	chr7:111296753..111298671-chr7:111300525..111303326,2	K562	blood:
30	chr7:111198400..111201071-chr7:111297443..111299093,2	K562	blood:
31	chr7:111201366..111203605-chr7:111282980..111284913,2	K562	blood:
32	chr7:111309388..111312560-chr7:111313840..111315927,3	K562	blood:
33	chr7:111293955..111295853-chr7:111296098..111298925,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184903	chromatin interactions

Extended variants
information (count: 1954 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1954 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184745348	chr7:111284160-111284161	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs538087126	chr7:111284214-111284215	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs189202588	chr7:111284215-111284216	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs574130217	chr7:111284244-111284245	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541644225	chr7:111284287-111284288	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs553690842	chr7:111284321-111284322	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs534365873	chr7:111284372-111284373	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs544892737	chr7:111284397-111284398	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs545717572	chr7:111284400-111284401	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs180931503	chr7:111284419-111284420	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs575046841	chr7:111284431-111284432	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs185195069	chr7:111284432-111284433	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs560382804	chr7:111284438-111284439	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs146605450	chr7:111284443-111284444	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529063241	chr7:111284453-111284454	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs117280887	chr7:111284466-111284467	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs117280235	chr7:111284485-111284486	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs533013360	chr7:111284490-111284491	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs375994529	chr7:111284496-111284497	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs370667915	chr7:111284541-111284542	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs374122945	chr7:111284542-111284543	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs551276965	chr7:111284555-111284556	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs376953120	chr7:111284556-111284557	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs2613605	chr7:111284558-111284559	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs531515484	chr7:111284573-111284574	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs73203057	chr7:111284607-111284608	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs181559594	chr7:111284624-111284625	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs539545584	chr7:111284669-111284670	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs369575715	chr7:111284678-111284679	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs535225365	chr7:111284698-111284699	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs186326766	chr7:111284699-111284700	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs578223145	chr7:111284725-111284726	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs150208310	chr7:111284735-111284736	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs557711769	chr7:111284757-111284758	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369185678	chr7:111284759-111284760	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs575929436	chr7:111284779-111284780	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs372495321	chr7:111284825-111284826	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs145762840	chr7:111284832-111284833	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs535266354	chr7:111284835-111284836	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs373733860	chr7:111284842-111284843	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs111304676	chr7:111284860-111284861	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs148921623	chr7:111284861-111284862	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs540731848	chr7:111284866-111284867	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs575988609	chr7:111284878-111284879	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs143647494	chr7:111284880-111284881	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs532981415	chr7:111284889-111284890	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs551238335	chr7:111284890-111284891	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs535485652	chr7:111284896-111284897	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs536640933	chr7:111284908-111284909	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs80265050	chr7:111287805-111287806	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Autism	20841430	CNVD
Cancer	20164919	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111287800-111288400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:111288000-111288200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:111288000-111288200	Enhancers	A549	lung
4	chr7:111288000-111288400	Enhancers	NHDF-Ad	bronchial
5	chr7:111288400-111289600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:111288400-111290400	Weak transcription	NHDF-Ad	bronchial
7	chr7:111288600-111289800	Weak transcription	A549	lung
8	chr7:111289600-111289800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:111289600-111290400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:111289800-111290200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:111289800-111290400	Enhancers	A549	lung
12	chr7:111290200-111291600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:111290400-111290800	Enhancers	Fetal Stomach	stomach
14	chr7:111290400-111290800	Enhancers	NHDF-Ad	bronchial
15	chr7:111290400-111291000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:111290400-111291000	Enhancers	Colon Smooth Muscle	Colon
17	chr7:111290400-111291000	Enhancers	Fetal Lung	lung
18	chr7:111290400-111291000	Enhancers	Stomach Mucosa	stomach
19	chr7:111290400-111291000	Enhancers	HepG2	liver
20	chr7:111290400-111291400	Flanking Active TSS	A549	lung
21	chr7:111290600-111291000	Enhancers	Fetal Muscle Leg	muscle
22	chr7:111290600-111291000	Enhancers	Dnd41	blood
23	chr7:111290600-111291400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:111290800-111294200	Weak transcription	NHDF-Ad	bronchial
25	chr7:111291000-111291600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:111291000-111303400	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:111291400-111292200	Enhancers	A549	lung
28	chr7:111291400-111294200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:111291600-111291800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:111291600-111294000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:111294000-111295400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:111294200-111294600	Enhancers	NHDF-Ad	bronchial
33	chr7:111294200-111295200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:111296400-111296800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr7:111299000-111299800	Enhancers	Stomach Mucosa	stomach
36	chr7:111302000-111303000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:111302400-111302600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr7:111302400-111302800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr7:111302800-111304400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:111303000-111310400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:111303400-111303600	Enhancers	Colon Smooth Muscle	Colon
42	chr7:111303600-111304000	Weak transcription	Colon Smooth Muscle	Colon
43	chr7:111304000-111304800	Enhancers	Colon Smooth Muscle	Colon
44	chr7:111304000-111305400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:111304200-111305000	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr7:111304400-111305000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr7:111304400-111305000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr7:111304400-111305200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:111304600-111305000	Enhancers	H9 Cell Line	embryonic stem cell
50	chr7:111304600-111306800	Enhancers	Fetal Brain Male	brain

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