Variant report

Variant	nsv888975
Chromosome Location	chr7:110613685-110677656
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:110650313..110653197-chr7:110655896..110658694,2	K562	blood:
2	chr7:110635157..110638146-chr7:111201987..111204497,2	K562	blood:
3	chr7:110650313..110653197-chr7:110655896..110658694,2	K562	blood:
4	chr7:110641915..110646048-chr7:110658516..110661977,3	K562	blood:
5	chr7:110644466..110647207-chr7:110661227..110663752,2	MCF-7	breast:
6	chr7:110630007..110632205-chr7:110633801..110636131,2	K562	blood:
7	chr7:110634034..110636972-chr7:110638479..110640199,3	K562	blood:
8	chr7:110645729..110647636-chr7:110649973..110652991,3	K562	blood:
9	chr7:110654683..110656937-chr7:110658000..110660146,2	K562	blood:
10	chr7:110642788..110644757-chr7:111200772..111203526,2	K562	blood:
11	chr7:110645729..110647636-chr7:110649973..110652991,3	K562	blood:
12	chr7:110641915..110646048-chr7:110658516..110661977,3	K562	blood:
13	chr7:110641707..110643850-chr7:110679248..110680877,2	K562	blood:
14	chr7:110601538..110603235-chr7:110611982..110613966,2	K562	blood:
15	chr7:110667611..110669471-chr7:110672812..110675111,2	K562	blood:
16	chr7:110667611..110669471-chr7:110672812..110675111,2	K562	blood:
17	chr7:110654683..110656937-chr7:110658000..110660146,2	K562	blood:
18	chr7:110644466..110647207-chr7:110661227..110663752,2	MCF-7	breast:
19	chr7:110630007..110632205-chr7:110633801..110636131,2	K562	blood:
20	chr7:110634034..110636972-chr7:110638479..110640199,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184903	chromatin interactions

Extended variants
information (count: 2366 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2366 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs758953	chr7:110613685-110613686	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs547769032	chr7:110613730-110613731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs56896134	chr7:110613731-110613732	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs758954	chr7:110613762-110613763	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs181789220	chr7:110613855-110613856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148067810	chr7:110613860-110613861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539141222	chr7:110613866-110613867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs117395610	chr7:110613887-110613888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75775155	chr7:110613935-110613936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376519336	chr7:110613937-110613938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114816527	chr7:110613952-110613953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75599961	chr7:110613996-110613997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574832338	chr7:110614004-110614005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187409604	chr7:110614011-110614012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141720654	chr7:110614025-110614026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34521331	chr7:110614048-110614049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576926349	chr7:110614049-110614050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545957200	chr7:110614089-110614090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552045441	chr7:110614132-110614133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78958777	chr7:110614152-110614153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566733430	chr7:110614197-110614198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536251741	chr7:110614207-110614208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374418448	chr7:110614210-110614211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35622450	chr7:110614211-110614212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541471890	chr7:110614251-110614252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561302986	chr7:110614255-110614256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117271000	chr7:110614303-110614304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192195940	chr7:110614318-110614319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74337473	chr7:110614332-110614333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532621120	chr7:110614380-110614381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570773105	chr7:110614447-110614448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146002841	chr7:110614451-110614452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528590231	chr7:110614476-110614477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373064368	chr7:110614485-110614486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548605377	chr7:110614509-110614510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182697144	chr7:110614513-110614514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537365663	chr7:110614550-110614551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139841011	chr7:110614606-110614607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185163630	chr7:110614628-110614629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552662657	chr7:110614662-110614663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539297458	chr7:110614675-110614676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552746548	chr7:110614700-110614701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572607707	chr7:110614731-110614732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573584483	chr7:110614765-110614766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190324350	chr7:110614806-110614807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4338033	chr7:110614829-110614830	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs539316344	chr7:110614859-110614860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538634544	chr7:110614932-110614933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575105397	chr7:110614944-110614945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372291356	chr7:110614949-110614950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Pancreatic cancer	17952125	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

Chromatin state (count:594 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110567600-110614400	Weak transcription	Psoas Muscle	Psoas
2	chr7:110613200-110614800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:110613200-110615200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:110613400-110614000	Enhancers	Fetal Heart	heart
5	chr7:110614800-110616000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:110615400-110615800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr7:110615600-110615800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:110615600-110616800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr7:110615600-110617400	Enhancers	Primary T cells from cord blood	blood
10	chr7:110615600-110617400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr7:110615800-110617000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr7:110615800-110618800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:110616600-110617600	Enhancers	Dnd41	blood
14	chr7:110616600-110618600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:110616600-110618600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr7:110616600-110618800	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr7:110616800-110618000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr7:110616800-110619400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr7:110617000-110617600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:110617000-110618000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr7:110617000-110618600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr7:110617200-110618000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:110617400-110617800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr7:110617400-110618000	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr7:110617600-110618000	Enhancers	Thymus	Thymus
26	chr7:110617600-110618000	Flanking Active TSS	Dnd41	blood
27	chr7:110617600-110618200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr7:110617800-110618600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr7:110618000-110618600	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr7:110618000-110620200	Enhancers	Primary T cells from cord blood	blood
31	chr7:110618000-110620200	Enhancers	Dnd41	blood
32	chr7:110618200-110618800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:110618600-110621800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr7:110618600-110621800	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr7:110618600-110632800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr7:110618800-110622200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr7:110620200-110628200	Weak transcription	Primary T cells from cord blood	blood
38	chr7:110621800-110622000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr7:110621800-110622400	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr7:110622000-110628200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr7:110622200-110622400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:110622400-110622600	Enhancers	Fetal Heart	heart
43	chr7:110622400-110626200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr7:110622600-110623600	Weak transcription	Fetal Heart	heart
45	chr7:110623000-110636200	Weak transcription	Left Ventricle	heart
46	chr7:110623600-110624000	Enhancers	Placenta Amnion	Placenta Amnion
47	chr7:110623600-110624400	Enhancers	Fetal Heart	heart
48	chr7:110624400-110626200	Weak transcription	Fetal Heart	heart
49	chr7:110625200-110625600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr7:110626200-110628600	Enhancers	Fetal Heart	heart

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