Variant report

Variant	nsv831109
Chromosome Location	chr7:118300593-118501778
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:118492020..118493688-chr7:118503141..118506054,2	K562	blood:
2	chr7:118445682..118447696-chr7:118455521..118457653,2	K562	blood:
3	chr7:118326896..118329034-chr7:118330450..118332850,2	K562	blood:
4	chr7:118314873..118317906-chr7:118321147..118324139,3	K562	blood:
5	chr7:118383910..118385815-chr7:118436694..118438479,2	MCF-7	breast:
6	chr7:118332371..118334737-chr7:118361575..118363524,2	K562	blood:
7	chr7:118126613..118129053-chr7:118300054..118302327,2	K562	blood:
8	chr7:118419611..118422277-chr7:118423656..118426627,3	K562	blood:
9	chr7:118457044..118459465-chr7:118462059..118464961,2	MCF-7	breast:
10	chr3:101159902..101160421-chr7:118320466..118320966,2	MCF-7	breast:
11	chr7:118325830..118329034-chr7:118330812..118333128,3	K562	blood:
12	chr7:118332371..118334737-chr7:118361575..118363524,2	K562	blood:
13	chr7:118343314..118345898-chr7:118349498..118351175,2	K562	blood:
14	chr7:118382699..118385545-chr7:118387383..118389679,2	K562	blood:
15	chr7:118427690..118429763-chr7:118433666..118436631,2	MCF-7	breast:
16	chr7:118294565..118296440-chr7:118304514..118306764,2	K562	blood:
17	chr7:118289392..118292258-chr7:118304193..118306771,2	MCF-7	breast:
18	chr7:118448241..118450701-chr7:118452751..118455343,2	K562	blood:
19	chr7:118343314..118345898-chr7:118349498..118351175,2	K562	blood:
20	chr7:118115547..118117412-chr7:118338324..118340087,2	K562	blood:
21	chr7:118326896..118329034-chr7:118330450..118332850,2	K562	blood:
22	chr19:14247978..14248624-chr7:118355435..118356054,2	MCF-7	breast:
23	chr7:118457044..118459465-chr7:118462059..118464961,2	MCF-7	breast:
24	chr7:118476181..118478052-chr7:118487208..118490190,2	K562	blood:
25	chr7:118314873..118317906-chr7:118321147..118324139,3	K562	blood:
26	chr7:118297078..118299425-chr7:118301659..118304024,3	K562	blood:
27	chr7:118325830..118329034-chr7:118330812..118333128,3	K562	blood:
28	chr7:118476181..118478052-chr7:118487208..118490190,2	K562	blood:
29	chr7:118448241..118450701-chr7:118452751..118455343,2	K562	blood:
30	chr7:118383910..118385815-chr7:118436694..118438479,2	MCF-7	breast:
31	chr7:117825257..117827852-chr7:118309009..118311377,2	K562	blood:
32	chr7:118427690..118429763-chr7:118433666..118436631,2	MCF-7	breast:
33	chr7:118222091..118224813-chr7:118367920..118370532,2	K562	blood:
34	chr7:118419611..118422277-chr7:118423656..118426627,3	K562	blood:
35	chr7:118382699..118385545-chr7:118387383..118389679,2	K562	blood:
36	chr7:118445682..118447696-chr7:118455521..118457653,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267169	chromatin interactions

Extended variants
information (count: 2272 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:2272 , 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	rs555767223	chr7:118304239-118304240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs36125020	chr7:118304246-118304247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10262685	chr7:118304290-118304291	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs535051508	chr7:118304322-118304323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558264234	chr7:118304388-118304389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13232398	chr7:118304393-118304394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543647380	chr7:118304406-118304407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11763035	chr7:118304413-118304414	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs13438439	chr7:118304452-118304453	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs542937806	chr7:118304453-118304454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561314924	chr7:118304471-118304472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527271181	chr7:118304509-118304510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181744866	chr7:118304514-118304515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113383116	chr7:118304522-118304523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs778836	chr7:118304572-118304573	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs533055395	chr7:118304578-118304579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549661548	chr7:118304582-118304583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184872552	chr7:118304606-118304607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529165656	chr7:118304619-118304620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143555708	chr7:118304635-118304636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190518731	chr7:118304663-118304664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs180797298	chr7:118304679-118304680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10500064	chr7:118304715-118304716	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs186039621	chr7:118304722-118304723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537555811	chr7:118304767-118304768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557245463	chr7:118304770-118304771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201860704	chr7:118304773-118304774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370276492	chr7:118304776-118304777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532774673	chr7:118312237-118312238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs62467289	chr7:118312279-118312280	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs575082685	chr7:118312348-118312349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs62467290	chr7:118312352-118312353	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs537034904	chr7:118312366-118312367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2462119	chr7:118312367-118312368	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs567326230	chr7:118312371-118312372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545440353	chr7:118312383-118312384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535988093	chr7:118312385-118312386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76549271	chr7:118312409-118312410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553819548	chr7:118312443-118312444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369733615	chr7:118312458-118312459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139476334	chr7:118312476-118312477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144212631	chr7:118312484-118312485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs59338220	chr7:118312495-118312496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562336355	chr7:118312502-118312503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558417432	chr7:118312574-118312575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575182538	chr7:118312645-118312646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544150234	chr7:118312680-118312681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370662464	chr7:118312731-118312732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376774670	chr7:118312772-118312773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560968056	chr7:118312782-118312783	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	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
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118304200-118304800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:118312200-118313200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:118320000-118320200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:118320200-118320800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:118336400-118337600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:118348800-118349200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:118384800-118386800	Enhancers	Dnd41	blood
8	chr7:118385600-118387000	Enhancers	Fetal Lung	lung
9	chr7:118386000-118386200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:118386400-118387000	Enhancers	Fetal Stomach	stomach
11	chr7:118386800-118387000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:118391400-118392000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:118394400-118394800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:118394400-118395800	Enhancers	HMEC	breast
15	chr7:118394400-118396000	Enhancers	NHEK	skin
16	chr7:118394600-118395800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr7:118394600-118395800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:118394600-118396000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:118398600-118398800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:118398800-118399000	Enhancers	Adipose Nuclei	Adipose
21	chr7:118399000-118400000	Weak transcription	Adipose Nuclei	Adipose
22	chr7:118400000-118401600	Enhancers	Adipose Nuclei	Adipose
23	chr7:118401000-118401400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:118401000-118401400	ZNF genes & repeats	Gastric	stomach
25	chr7:118401400-118404000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:118403000-118403200	Bivalent Enhancer	Fetal Brain Male	brain
27	chr7:118404000-118404200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:118404000-118405000	Enhancers	Fetal Brain Female	brain
29	chr7:118407200-118407400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:118407400-118414200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr7:118407800-118409600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:118408000-118409600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:118409600-118411800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:118409600-118414000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:118411400-118411800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr7:118411400-118412600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr7:118411600-118412200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr7:118411600-118413200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr7:118411800-118412800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:118411800-118414200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr7:118412200-118414400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr7:118412600-118412800	Enhancers	H9 Cell Line	embryonic stem cell
43	chr7:118412600-118413200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:118412600-118414200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr7:118412800-118414000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:118413000-118414000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr7:118413200-118414200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:118413200-118414400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr7:118414000-118414600	Enhancers	H9 Cell Line	embryonic stem cell
50	chr7:118414000-118415000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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