Variant report

Variant	nsv608275
Chromosome Location	chr7:118831375-118845608
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:118558340..118559254-chr7:118837696..118838683,4	MCF-7	breast:
2	chr7:118829678..118832309-chr7:118833350..118835537,2	MCF-7	breast:
3	chr7:118829678..118832309-chr7:118833350..118835537,2	MCF-7	breast:

Extended variants
information (count: 186 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:186 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574826858	chr7:118831377-118831378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540851479	chr7:118831388-118831389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145024330	chr7:118831415-118831416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532706990	chr7:118831421-118831422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192915125	chr7:118831465-118831466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184418333	chr7:118831490-118831491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58746646	chr7:118831539-118831540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs61400273	chr7:118831547-118831548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567057890	chr7:118831551-118831552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535943673	chr7:118831567-118831568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546645144	chr7:118831665-118831666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566561935	chr7:118831705-118831706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370808341	chr7:118831819-118831820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111867373	chr7:118831835-118831836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575606325	chr7:118831857-118831858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187474678	chr7:118831880-118831881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61309410	chr7:118831945-118831946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs574749201	chr7:118832006-118832007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540387253	chr7:118832063-118832064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111343112	chr7:118832080-118832081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192278345	chr7:118832089-118832090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144566471	chr7:118832174-118832175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551235197	chr7:118835828-118835829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs58579703	chr7:118835838-118835839	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs191034578	chr7:118835858-118835859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572677448	chr7:118835890-118835891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182601294	chr7:118835957-118835958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558128417	chr7:118836088-118836089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530484585	chr7:118836141-118836142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576911858	chr7:118836171-118836172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79070005	chr7:118836193-118836194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562614079	chr7:118836219-118836220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139018895	chr7:118836279-118836280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541689207	chr7:118836300-118836301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561943093	chr7:118836389-118836390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149238161	chr7:118836444-118836445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547677771	chr7:118836493-118836494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374759170	chr7:118836632-118836633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563990035	chr7:118836638-118836639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550568719	chr7:118836676-118836677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566896298	chr7:118836693-118836694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536170855	chr7:118836707-118836708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552830524	chr7:118836724-118836725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566367862	chr7:118836803-118836804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369055129	chr7:118836837-118836838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187343588	chr7:118836873-118836874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549755115	chr7:118836876-118836877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144451225	chr7:118836909-118836910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535921231	chr7:118836944-118836945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549179882	chr7:118836966-118836967	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Schizophrenia	23813976	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118828200-118832200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:118835800-118836800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:118836600-118837000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:118836600-118838000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:118836600-118838200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:118837200-118838000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:118837200-118838000	Enhancers	HMEC	breast
8	chr7:118837200-118838200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:118837400-118838000	Enhancers	NHEK	skin
10	chr7:118837800-118838200	Enhancers	Dnd41	blood
11	chr7:118838000-118838400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:118838400-118839600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:118839600-118839800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:118839800-118840200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:118840200-118840800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:118840200-118841200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr7:118840400-118841200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:118840600-118841200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:118840600-118841400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr7:118841000-118841400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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