Variant report

Variant	nsv888609
Chromosome Location	chr7:83307600-83403157
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:83286638..83289416-chr7:83307592..83310241,2	MCF-7	breast:
2	chr7:83315115..83317340-chr7:83318179..83320541,2	MCF-7	breast:
3	chr7:83315115..83317340-chr7:83318179..83320541,2	MCF-7	breast:

Extended variants
information (count: 1657 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1657 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540157	chr7:83307600-83307601	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550774801	chr7:83307713-83307714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187162241	chr7:83307749-83307750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539512053	chr7:83307773-83307774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546338211	chr7:83307777-83307778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574030173	chr7:83307788-83307789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536640770	chr7:83307838-83307839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149585768	chr7:83307892-83307893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191265836	chr7:83307900-83307901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182211672	chr7:83307950-83307951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187567064	chr7:83307965-83307966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77418754	chr7:83307998-83307999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs193111720	chr7:83308042-83308043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs646099	chr7:83308168-83308169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577304762	chr7:83308208-83308209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546285391	chr7:83308232-83308233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553166734	chr7:83308267-83308268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs645612	chr7:83308290-83308291	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs73708539	chr7:83308294-83308295	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs561992694	chr7:83308378-83308379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201162547	chr7:83308476-83308477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs199547591	chr7:83308481-83308482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544460687	chr7:83308482-83308483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564282648	chr7:83308530-83308531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532936854	chr7:83308533-83308534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs509148	chr7:83308667-83308668	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs185159944	chr7:83308777-83308778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528916243	chr7:83308783-83308784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78362436	chr7:83308801-83308802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568460655	chr7:83308805-83308806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138814948	chr7:83308877-83308878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532311605	chr7:83309010-83309011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142814785	chr7:83309034-83309035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557189104	chr7:83309068-83309069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565397227	chr7:83309086-83309087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113016842	chr7:83309095-83309096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571025950	chr7:83309097-83309098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527659111	chr7:83309144-83309145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547184053	chr7:83309162-83309163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189895801	chr7:83309179-83309180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573235891	chr7:83309203-83309204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17157964	chr7:83309227-83309228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs36069110	chr7:83309297-83309298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370119668	chr7:83309317-83309318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555789676	chr7:83309338-83309339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575669757	chr7:83309347-83309348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544521857	chr7:83309361-83309362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564345717	chr7:83309368-83309369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs193190509	chr7:83309390-83309391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540037889	chr7:83309444-83309445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83301600-83313400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:83305400-83307800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:83306000-83308200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:83306200-83307600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:83306200-83308400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:83306200-83308600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:83306400-83307600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:83306400-83307600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:83306400-83307800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr7:83306400-83308400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:83307000-83307600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:83307000-83307800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:83307400-83307800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:83307400-83307800	Enhancers	NHDF-Ad	bronchial
15	chr7:83307400-83308000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:83307600-83307800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:83307600-83310800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:83307800-83311800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:83307800-83312400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:83308200-83313200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:83308600-83309000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:83309000-83309800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:83309800-83312600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:83310800-83311000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr7:83311600-83311800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr7:83311600-83312600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
27	chr7:83311800-83312400	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr7:83312200-83312400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
29	chr7:83312400-83312800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
30	chr7:83312400-83314200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr7:83312400-83315400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:83312600-83312800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:83312600-83314000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:83312600-83314000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr7:83312800-83314200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:83313000-83315000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr7:83313200-83314000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr7:83313200-83314200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr7:83313400-83313600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
40	chr7:83313400-83314200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr7:83313400-83314800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr7:83313600-83313800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
43	chr7:83313800-83314400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr7:83314000-83314400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr7:83314000-83314400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr7:83314000-83314600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr7:83314000-83314600	Weak transcription	Fetal Lung	lung
48	chr7:83314000-83314800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:83314200-83314400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr7:83314200-83314400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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