Variant report

Variant	nsv608262
Chromosome Location	chr7:117926753-118036133
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:117976765..117979228-chr7:117979342..117982033,2	MCF-7	breast:
2	chr7:117990137..117992600-chr7:117994804..117996566,2	K562	blood:
3	chr7:117994177..117997153-chr7:117999997..118002476,2	K562	blood:
4	chr7:117992682..117993833-chr7:118815599..118816513,3	MCF-7	breast:
5	chr7:117992579..117993168-chr7:118815740..118816656,2	K562	blood:
6	chr7:118001976..118004241-chr7:118007255..118009267,2	K562	blood:
7	chr7:118024235..118026540-chr7:118029171..118031730,2	K562	blood:
8	chr7:117951615..117953994-chr7:117957679..117960636,2	MCF-7	breast:
9	chr7:117934474..117936581-chr7:117939544..117942392,2	MCF-7	breast:
10	chr7:117926569..117928366-chr7:117931162..117932666,2	K562	blood:
11	chr7:117914543..117916311-chr7:117931955..117934025,2	K562	blood:
12	chr7:117989526..117991618-chr7:118013013..118014775,2	K562	blood:
13	chr7:117989526..117991618-chr7:118013013..118014775,2	K562	blood:
14	chr7:117990137..117992600-chr7:117994804..117996566,2	K562	blood:
15	chr7:117934474..117936581-chr7:117939544..117942392,2	MCF-7	breast:
16	chr7:117926569..117928366-chr7:117931162..117932666,2	K562	blood:
17	chr7:117992651..117993374-chr7:118815864..118816654,2	MCF-7	breast:
18	chr7:117965704..117967563-chr7:117967584..117969629,2	K562	blood:
19	chr7:118024235..118026540-chr7:118029171..118031730,2	K562	blood:
20	chr7:117951615..117953994-chr7:117957679..117960636,2	MCF-7	breast:
21	chr1:217680158..217680969-chr7:117992533..117993276,2	MCF-7	breast:
22	chr7:118001976..118004241-chr7:118007255..118009267,2	K562	blood:
23	chr7:117976765..117979228-chr7:117979342..117982033,2	MCF-7	breast:
24	chr7:117965704..117967563-chr7:117967584..117969629,2	K562	blood:
25	chr7:118002902..118005876-chr7:118043767..118045585,2	K562	blood:
26	chr7:117994177..117997153-chr7:117999997..118002476,2	K562	blood:

No data

Extended variants
information (count: 2305 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:2305 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566370919	chr7:117926776-117926777	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs111631220	chr7:117926852-117926853	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs4730847	chr7:117926864-117926865	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs557919675	chr7:117926929-117926930	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs558339742	chr7:117926936-117926937	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs10580682	chr7:117926939-117926940	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs370572876	chr7:117926940-117926941	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs540743248	chr7:117926986-117926987	Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs187210994	chr7:117927047-117927048	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs553941774	chr7:117927057-117927058	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs555556144	chr7:117927118-117927119	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs143726315	chr7:117927141-117927142	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs566954761	chr7:117927144-117927145	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs552896521	chr7:117927171-117927172	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs577469751	chr7:117927345-117927346	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs62468177	chr7:117927370-117927371	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs148136710	chr7:117927390-117927391	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs34945668	chr7:117927405-117927406	Bivalent Enhancer ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141067005	chr7:117927415-117927416	Bivalent Enhancer ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542738173	chr7:117927423-117927424	Bivalent Enhancer ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150258134	chr7:117927432-117927433	Bivalent Enhancer ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62468178	chr7:117927451-117927452	Bivalent Enhancer ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs546570649	chr7:117927495-117927496	Bivalent Enhancer ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532086438	chr7:117927501-117927502	Bivalent Enhancer ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560095553	chr7:117927584-117927585	Bivalent Enhancer ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533630615	chr7:117927586-117927587	Bivalent Enhancer ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139019738	chr7:117927621-117927622	Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs191667780	chr7:117927629-117927630	Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs73716950	chr7:117927643-117927644	Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs141491147	chr7:117927667-117927668	Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs567652265	chr7:117927703-117927704	Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs534701057	chr7:117927729-117927730	Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs73483465	chr7:117927744-117927745	Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs377000874	chr7:117928002-117928003	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs373115265	chr7:117928040-117928041	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs542108325	chr7:117928066-117928067	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs183870069	chr7:117928096-117928097	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs79258936	chr7:117928101-117928102	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs556955811	chr7:117928116-117928117	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs146188537	chr7:117928124-117928125	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs556552787	chr7:117928125-117928126	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs547953267	chr7:117928136-117928137	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs566257940	chr7:117928150-117928151	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs137897144	chr7:117928151-117928152	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs561038990	chr7:117928170-117928171	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs142439850	chr7:117928240-117928241	Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs540246263	chr7:117928254-117928255	Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs369586397	chr7:117928303-117928304	Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs532122490	chr7:117928356-117928357	Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs552084524	chr7:117928472-117928473	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Schizophrenia	23813976	CNVD
Chordoma	21215367	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:190 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117926000-117926800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:117926000-117927200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr7:117926200-117927000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
4	chr7:117926400-117927200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
5	chr7:117926600-117926800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
6	chr7:117926600-117927000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr7:117926600-117927000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
8	chr7:117926600-117927000	Flanking Active TSS	Dnd41	blood
9	chr7:117926600-117929000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:117926800-117927000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr7:117926800-117927600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
12	chr7:117926800-117928600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr7:117927000-117928000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr7:117927000-117928000	Enhancers	Dnd41	blood
15	chr7:117927000-117928600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr7:117927000-117929000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr7:117927200-117928600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr7:117927200-117929000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr7:117927400-117927600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
20	chr7:117927400-117927800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
21	chr7:117927400-117927800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:117927400-117928000	Bivalent Enhancer	Primary T cells from cord blood	blood
23	chr7:117927400-117928200	Bivalent Enhancer	Primary B cells from cord blood	blood
24	chr7:117927400-117928400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr7:117927400-117928600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr7:117927400-117928800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:117927400-117929000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr7:117927400-117931400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
29	chr7:117927600-117927800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:117927600-117928000	Enhancers	GM12878-XiMat	blood
31	chr7:117927600-117928000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
32	chr7:117927600-117928400	Enhancers	HMEC	breast
33	chr7:117927600-117928600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
34	chr7:117927600-117928600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr7:117927600-117929000	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr7:117927800-117928200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:117927800-117928600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:117927800-117929000	Enhancers	Primary hematopoietic stem cells	blood
39	chr7:117928000-117928400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
40	chr7:117928000-117928400	Flanking Active TSS	GM12878-XiMat	blood
41	chr7:117928000-117928600	Flanking Active TSS	Dnd41	blood
42	chr7:117928000-117928600	Enhancers	HUVEC	blood vessel
43	chr7:117928000-117928600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
44	chr7:117928200-117928400	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr7:117928200-117928400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:117928200-117928600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:117928400-117928600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
48	chr7:117928400-117928600	Enhancers	GM12878-XiMat	blood
49	chr7:117928400-117929000	Bivalent Enhancer	Primary T cells from cord blood	blood
50	chr7:117928400-117929200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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