Variant report

Variant	nsv608263
Chromosome Location	chr7:117973445-118058927
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000222226	chromatin interactions

Extended variants
information (count: 1133 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1133 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs41958	chr7:117973445-117973446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs13246582	chr7:117973446-117973447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146938160	chr7:117973500-117973501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13246705	chr7:117973530-117973531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13246706	chr7:117973532-117973533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13246708	chr7:117973538-117973539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562951324	chr7:117973549-117973550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184221565	chr7:117973552-117973553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142837372	chr7:117973557-117973558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575221466	chr7:117973573-117973574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370793718	chr7:117973580-117973581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566704239	chr7:117973603-117973604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540894208	chr7:117973620-117973621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78609977	chr7:117973635-117973636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560690499	chr7:117973681-117973682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532623072	chr7:117973689-117973690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552041421	chr7:117973692-117973693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553759305	chr7:117973698-117973699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572059732	chr7:117973704-117973705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570408514	chr7:117973751-117973752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537627732	chr7:117973756-117973757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368589188	chr7:117973789-117973790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs41959	chr7:117973795-117973796	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs189669279	chr7:117973864-117973865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535160708	chr7:117973907-117973908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553733521	chr7:117973965-117973966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28510835	chr7:117973976-117973977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28595692	chr7:117974000-117974001	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs114215555	chr7:117974009-117974010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35580135	chr7:117974027-117974028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs577544865	chr7:117974047-117974048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544844456	chr7:117974079-117974080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530625821	chr7:117974093-117974094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184493403	chr7:117974152-117974153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530224058	chr7:117974253-117974254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541952908	chr7:117974288-117974289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560572798	chr7:117974338-117974339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77957151	chr7:117974386-117974387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147428406	chr7:117974433-117974434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552078433	chr7:117974447-117974448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139799782	chr7:117974454-117974455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142973479	chr7:117974529-117974530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144662053	chr7:117974531-117974532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189427438	chr7:117974612-117974613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34119494	chr7:117974623-117974624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566879946	chr7:117974635-117974636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371823603	chr7:117974659-117974660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536154312	chr7:117974690-117974691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148511534	chr7:117974759-117974760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547167965	chr7:117974773-117974774	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:49 , 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	chr7:117970800-117975800	Weak transcription	Dnd41	blood
3	chr7:117975800-117977400	Enhancers	Dnd41	blood
4	chr7:117976200-117976800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:117984200-117984600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:117984600-117986200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:117986000-117987800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr7:117986200-117987200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:117986200-117987200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:117986200-117987800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:117986600-117987200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:117986800-117987000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:117987000-117987800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr7:117987200-117988000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:117987800-117993400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:117988000-117988200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:117988200-117990000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:117989400-117992000	Enhancers	Dnd41	blood
19	chr7:117992000-117993200	Weak transcription	Dnd41	blood
20	chr7:117993200-117993400	Enhancers	Dnd41	blood
21	chr7:117993400-117994200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr7:117994400-117994800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:118003600-118003800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:118003600-118004600	Enhancers	HepG2	liver
25	chr7:118003600-118004600	Active TSS	K562	blood
26	chr7:118003800-118004000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:118003800-118004200	Active TSS	A549	lung
28	chr7:118004000-118006400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:118004600-118005600	Weak transcription	K562	blood
30	chr7:118005600-118006200	Active TSS	K562	blood
31	chr7:118006400-118007000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:118008600-118009000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:118011600-118013800	Enhancers	Dnd41	blood
34	chr7:118012400-118012800	Enhancers	Fetal Lung	lung
35	chr7:118012400-118013400	Enhancers	Primary hematopoietic stem cells	blood
36	chr7:118012400-118013400	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr7:118012400-118013400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:118012600-118013000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr7:118012600-118013200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:118018400-118018800	Enhancers	Fetal Stomach	stomach
41	chr7:118025600-118026000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr7:118025600-118026000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:118026000-118027400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr7:118026000-118027800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr7:118027000-118027800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr7:118027400-118028000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr7:118043000-118043200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:118043000-118043200	Enhancers	Pancreas	Pancrea
49	chr7:118043000-118043200	Enhancers	Right Ventricle	heart

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