Variant report

Variant	nsv464674
Chromosome Location	chr7:110776037-110861883
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:56)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:110850499..110852525-chr7:110861582..110863250,2	K562	blood:
2	chr7:110860948..110867491-chr7:110867576..110875570,9	K562	blood:
3	chr7:110838168..110840806-chr7:110845021..110846527,2	K562	blood:
4	chr7:110843078..110846205-chr7:110849161..110854141,4	K562	blood:
5	chr7:110838767..110841477-chr7:110867993..110870087,3	K562	blood:
6	chr7:110858722..110860508-chr7:110869419..110871427,2	K562	blood:
7	chr7:110784339..110787250-chr7:110788420..110790472,2	K562	blood:
8	chr7:110807402..110810065-chr7:110811637..110813724,2	K562	blood:
9	chr7:110827684..110829363-chr7:110849997..110851639,2	K562	blood:
10	chr7:110846405..110848807-chr7:110859320..110861910,2	K562	blood:
11	chr7:110836787..110838968-chr7:110842164..110843669,2	K562	blood:
12	chr7:110846499..110848352-chr7:110867218..110869031,2	MCF-7	breast:
13	chr7:110794617..110796472-chr7:110809802..110811971,2	K562	blood:
14	chr7:110828459..110830042-chr7:110834757..110837365,2	K562	blood:
15	chr7:110812015..110813631-chr7:110817074..110819107,2	K562	blood:
16	chr7:110787029..110788702-chr7:110791625..110793971,2	K562	blood:
17	chr7:110784339..110787250-chr7:110788420..110790472,2	K562	blood:
18	chr7:110790879..110793527-chr7:110798511..110801255,3	K562	blood:
19	chr7:110792860..110795164-chr7:110801067..110803231,2	MCF-7	breast:
20	chr7:110780555..110783082-chr7:110783527..110786521,2	K562	blood:
21	chr7:110846458..110850024-chr7:110851219..110853852,3	MCF-7	breast:
22	chr7:110843078..110844596-chr7:110851457..110854141,2	K562	blood:
23	chr7:110772454..110774520-chr7:110775705..110777791,2	K562	blood:
24	chr7:110831361..110833166-chr7:110833300..110836060,2	K562	blood:
25	chr7:110787029..110788702-chr7:110791625..110793971,2	K562	blood:
26	chr7:110812015..110813631-chr7:110817074..110819107,2	K562	blood:
27	chr7:110846405..110848807-chr7:110859320..110861910,2	K562	blood:
28	chr7:110822071..110825302-chr7:110827142..110830150,3	K562	blood:
29	chr7:110829508..110831617-chr7:110846112..110848748,2	K562	blood:
30	chr7:110791972..110793619-chr7:110796651..110798355,2	K562	blood:
31	chr7:110766284..110768061-chr7:110775175..110776979,2	K562	blood:
32	chr7:110780555..110783082-chr7:110783527..110786521,2	K562	blood:
33	chr7:110827684..110829363-chr7:110849997..110851639,2	K562	blood:
34	chr7:110790879..110793527-chr7:110798511..110801255,3	K562	blood:
35	chr7:110843078..110846205-chr7:110849161..110854141,4	K562	blood:
36	chr7:110792860..110795164-chr7:110801067..110803231,2	MCF-7	breast:
37	chr7:110843665..110845702-chr7:110845783..110848771,2	K562	blood:
38	chr7:110846458..110850024-chr7:110851219..110853852,3	MCF-7	breast:
39	chr7:110807402..110810065-chr7:110811637..110813724,2	K562	blood:
40	chr7:110845330..110847607-chr7:110862386..110864699,2	K562	blood:
41	chr7:110843078..110844596-chr7:110851457..110854141,2	K562	blood:
42	chr7:110828459..110830042-chr7:110834757..110837365,2	K562	blood:
43	chr7:110850499..110852525-chr7:110861582..110863250,2	K562	blood:
44	chr7:110836787..110838968-chr7:110842164..110843669,2	K562	blood:
45	chr7:110858379..110861216-chr7:110867269..110869936,2	MCF-7	breast:
46	chr7:110794617..110796472-chr7:110809802..110811971,2	K562	blood:
47	chr7:110829508..110831617-chr7:110846112..110848748,2	K562	blood:
48	chr7:110843665..110845702-chr7:110845783..110848771,2	K562	blood:
49	chr7:110838168..110840806-chr7:110845021..110846527,2	K562	blood:
50	chr7:110822071..110825302-chr7:110827142..110830150,3	K562	blood:

No data

Extended variants
information (count: 2804 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:2804 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12705757	chr7:110776037-110776038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114683073	chr7:110776046-110776047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548364340	chr7:110776048-110776049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577770158	chr7:110776088-110776089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545975140	chr7:110776089-110776090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535906479	chr7:110776143-110776144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555509238	chr7:110776169-110776170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187304481	chr7:110776185-110776186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368235204	chr7:110776232-110776233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538189274	chr7:110776284-110776285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558072495	chr7:110776286-110776287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577968195	chr7:110776300-110776301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540456000	chr7:110776302-110776303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566452111	chr7:110776319-110776320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560261340	chr7:110776325-110776326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573689346	chr7:110776328-110776329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192100999	chr7:110776354-110776355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7811143	chr7:110776361-110776362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs113833848	chr7:110776362-110776363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544565541	chr7:110776363-110776364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564445760	chr7:110776374-110776375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533416350	chr7:110776388-110776389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139750069	chr7:110776488-110776489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546804570	chr7:110776533-110776534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373030546	chr7:110776542-110776543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557396791	chr7:110776574-110776575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371706832	chr7:110776602-110776603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140817327	chr7:110776646-110776647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529393942	chr7:110776661-110776662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114470995	chr7:110776682-110776683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560879795	chr7:110776750-110776751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs56247252	chr7:110776751-110776752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527285636	chr7:110776771-110776772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536485059	chr7:110776772-110776773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538250806	chr7:110776851-110776852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558157861	chr7:110776864-110776865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75102385	chr7:110776917-110776918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571582427	chr7:110776961-110776962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147873387	chr7:110776979-110776980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549027406	chr7:110776997-110776998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553713709	chr7:110777029-110777030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573778583	chr7:110777030-110777031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542401090	chr7:110777046-110777047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370299843	chr7:110777110-110777111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556235280	chr7:110777123-110777124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575687456	chr7:110777151-110777152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544624699	chr7:110777152-110777153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555105547	chr7:110777160-110777161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377401196	chr7:110777164-110777165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564503904	chr7:110777167-110777168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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
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
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell lymphomas	22341440	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Dyslexia	22102821	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Schizophrenia	23813976	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	21509527	CNVD
Glioma	20126413	CNVD

Chromatin state (count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110753000-110778000	Weak transcription	Ovary	ovary
2	chr7:110764800-110777800	Weak transcription	Primary T cells from cord blood	blood
3	chr7:110771400-110777800	Weak transcription	Aorta	Aorta
4	chr7:110773200-110776600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:110773200-110777400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:110773400-110777600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:110773400-110777600	Weak transcription	HUVEC	blood vessel
8	chr7:110773400-110777800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:110773400-110778000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:110773400-110778000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:110773600-110776800	Weak transcription	Hela-S3	cervix
12	chr7:110773600-110778000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:110773800-110778000	Weak transcription	A549	lung
14	chr7:110776600-110779800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:110776800-110777800	Enhancers	Hela-S3	cervix
16	chr7:110776800-110780000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr7:110777000-110777800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:110777000-110778000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:110777000-110778400	Enhancers	Small Intestine	intestine
20	chr7:110777200-110779000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr7:110777400-110777600	Active TSS	GM12878-XiMat	blood
22	chr7:110777400-110778200	Enhancers	Dnd41	blood
23	chr7:110777400-110779200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:110777400-110780600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:110777600-110778600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:110777600-110778600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:110777600-110778800	Flanking Active TSS	GM12878-XiMat	blood
28	chr7:110777600-110779000	Enhancers	Primary hematopoietic stem cells	blood
29	chr7:110777600-110779400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:110777600-110779400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr7:110777600-110779400	Enhancers	HUVEC	blood vessel
32	chr7:110777600-110779400	Enhancers	NHDF-Ad	bronchial
33	chr7:110777600-110780200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr7:110777600-110780600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:110777800-110778000	Enhancers	Primary T cells from cord blood	blood
36	chr7:110777800-110778000	Enhancers	Aorta	Aorta
37	chr7:110777800-110778400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:110777800-110778400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:110777800-110778400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr7:110777800-110778400	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr7:110777800-110778400	Flanking Active TSS	Hela-S3	cervix
42	chr7:110777800-110778600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr7:110777800-110778600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:110777800-110778600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr7:110777800-110778600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:110777800-110778600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr7:110777800-110778600	Enhancers	NHEK	skin
48	chr7:110777800-110778800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr7:110777800-110779000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:110777800-110779000	Enhancers	Primary monocytes fromperipheralblood	blood

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