Variant report

Variant	nsv889092
Chromosome Location	chr7:117977091-118067460
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:117992579..117993168-chr7:118815740..118816656,2	K562	blood:
2	chr7:118001976..118004241-chr7:118007255..118009267,2	K562	blood:
3	chr1:217680158..217680969-chr7:117992533..117993276,2	MCF-7	breast:
4	chr7:117976765..117979228-chr7:117979342..117982033,2	MCF-7	breast:
5	chr7:117989526..117991618-chr7:118013013..118014775,2	K562	blood:
6	chr7:117989526..117991618-chr7:118013013..118014775,2	K562	blood:
7	chr7:117994177..117997153-chr7:117999997..118002476,2	K562	blood:
8	chr7:117990137..117992600-chr7:117994804..117996566,2	K562	blood:
9	chr7:117992651..117993374-chr7:118815864..118816654,2	MCF-7	breast:
10	chr7:117992682..117993833-chr7:118815599..118816513,3	MCF-7	breast:
11	chr7:118002902..118005876-chr7:118043767..118045585,2	K562	blood:
12	chr7:118024235..118026540-chr7:118029171..118031730,2	K562	blood:
13	chr7:118055217..118057718-chr7:118101905..118103511,2	K562	blood:
14	chr7:118057355..118058880-chr7:118063444..118065821,2	MCF-7	breast:
15	chr7:118064259..118066722-chr7:118067170..118069262,2	K562	blood:
16	chr7:117976765..117979228-chr7:117979342..117982033,2	MCF-7	breast:
17	chr7:117994177..117997153-chr7:117999997..118002476,2	K562	blood:
18	chr7:118002902..118005876-chr7:118043767..118045585,2	K562	blood:
19	chr7:118024235..118026540-chr7:118029171..118031730,2	K562	blood:
20	chr7:117990137..117992600-chr7:117994804..117996566,2	K562	blood:
21	chr7:118001976..118004241-chr7:118007255..118009267,2	K562	blood:
22	chr7:118064259..118066722-chr7:118067170..118069262,2	K562	blood:
23	chr7:118055742..118058458-chr7:118058917..118061790,2	K562	blood:
24	chr7:118055742..118058458-chr7:118058917..118061790,2	K562	blood:
25	chr7:118057355..118058880-chr7:118063444..118065821,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000222226	chromatin interactions

Extended variants
information (count: 1010 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1010 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6959973	chr7:117977091-117977092	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6959717	chr7:117977099-117977100	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs567206760	chr7:117977100-117977101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529604480	chr7:117977132-117977133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35156434	chr7:117977133-117977134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548059206	chr7:117977174-117977175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563049919	chr7:117977197-117977198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530529125	chr7:117977242-117977243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571068207	chr7:117977279-117977280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28693561	chr7:117977284-117977285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539623714	chr7:117977285-117977286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192388334	chr7:117977307-117977308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550223525	chr7:117977322-117977323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537514636	chr7:117977328-117977329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560570161	chr7:117977341-117977342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184436941	chr7:117977353-117977354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573976348	chr7:117977406-117977407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146990568	chr7:117977414-117977415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188604897	chr7:117977437-117977438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79552564	chr7:117977521-117977522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545236991	chr7:117977575-117977576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192787480	chr7:117977612-117977613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13235248	chr7:117977715-117977716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6964536	chr7:117977717-117977718	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs566702056	chr7:117977727-117977728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62468224	chr7:117977771-117977772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs138132365	chr7:117977831-117977832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184879747	chr7:117977870-117977871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141767740	chr7:117977889-117977890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150590452	chr7:117977908-117977909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13235462	chr7:117977910-117977911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs41963	chr7:117977935-117977936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs551570021	chr7:117977940-117977941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10253367	chr7:117977946-117977947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6964892	chr7:117977955-117977956	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs140092567	chr7:117977985-117977986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567579854	chr7:117978013-117978014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201282665	chr7:117978029-117978030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377760149	chr7:117978035-117978036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs41964	chr7:117978096-117978097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs146352290	chr7:117978206-117978207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs139706367	chr7:117978212-117978213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112949558	chr7:117978228-117978229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373246176	chr7:117978232-117978233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113227188	chr7:117978240-117978241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386717153	chr7:117978246-117978247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538889093	chr7:117978261-117978262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557240604	chr7:117978262-117978263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546680643	chr7:117978264-117978265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575385478	chr7:117978305-117978306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117964400-117986800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:117975800-117977400	Enhancers	Dnd41	blood
3	chr7:117984200-117984600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:117984600-117986200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:117986000-117987800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:117986200-117987200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:117986200-117987200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:117986200-117987800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:117986600-117987200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:117986800-117987000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:117987000-117987800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr7:117987200-117988000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:117987800-117993400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:117988000-117988200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:117988200-117990000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:117989400-117992000	Enhancers	Dnd41	blood
17	chr7:117992000-117993200	Weak transcription	Dnd41	blood
18	chr7:117993200-117993400	Enhancers	Dnd41	blood
19	chr7:117993400-117994200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr7:117994400-117994800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:118003600-118003800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:118003600-118004600	Enhancers	HepG2	liver
23	chr7:118003600-118004600	Active TSS	K562	blood
24	chr7:118003800-118004000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:118003800-118004200	Active TSS	A549	lung
26	chr7:118004000-118006400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:118004600-118005600	Weak transcription	K562	blood
28	chr7:118005600-118006200	Active TSS	K562	blood
29	chr7:118006400-118007000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:118008600-118009000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:118011600-118013800	Enhancers	Dnd41	blood
32	chr7:118012400-118012800	Enhancers	Fetal Lung	lung
33	chr7:118012400-118013400	Enhancers	Primary hematopoietic stem cells	blood
34	chr7:118012400-118013400	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr7:118012400-118013400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:118012600-118013000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr7:118012600-118013200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:118018400-118018800	Enhancers	Fetal Stomach	stomach
39	chr7:118025600-118026000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr7:118025600-118026000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:118026000-118027400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr7:118026000-118027800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr7:118027000-118027800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr7:118027400-118028000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr7:118043000-118043200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:118043000-118043200	Enhancers	Pancreas	Pancrea
47	chr7:118043000-118043200	Enhancers	Right Ventricle	heart

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