Variant report

Variant	nsv888964
Chromosome Location	chr7:109871406-109939167
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:109860312..109862571-chr7:109908993..109910664,2	K562	blood:
2	chr7:109882190..109884405-chr7:109886123..109887899,2	K562	blood:
3	chr7:109912170..109914601-chr7:109915373..109917923,3	MCF-7	breast:
4	chr7:109882190..109884405-chr7:109886123..109887899,2	K562	blood:
5	chr7:109921191..109922083-chr7:110022949..110023504,3	MCF-7	breast:
6	chr7:109921534..109922083-chr7:110022993..110023504,2	MCF-7	breast:
7	chr7:109912170..109914601-chr7:109915373..109917923,3	MCF-7	breast:

Extended variants
information (count: 1156 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1156 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148497468	chr7:109891017-109891018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs10487316	chr7:109891052-109891053	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs181799655	chr7:109891079-109891080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527246189	chr7:109891102-109891103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542827540	chr7:109891141-109891142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561208383	chr7:109891143-109891144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528614552	chr7:109891195-109891196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141895116	chr7:109891196-109891197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565242790	chr7:109891201-109891202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532555808	chr7:109891212-109891213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529453785	chr7:109891234-109891235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186343332	chr7:109891342-109891343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189653944	chr7:109891364-109891365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182294142	chr7:109891383-109891384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551784789	chr7:109891389-109891390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571564492	chr7:109891413-109891414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150634365	chr7:109891446-109891447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550866341	chr7:109891452-109891453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71529497	chr7:109891462-109891463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11769877	chr7:109891464-109891465	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs34614240	chr7:109891502-109891503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139323626	chr7:109891503-109891504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34454582	chr7:109891543-109891544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377698980	chr7:109891545-109891546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111299514	chr7:109891554-109891555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188256266	chr7:109891562-109891563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544991103	chr7:109891587-109891588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565160141	chr7:109891619-109891620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146524783	chr7:109891650-109891651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191013331	chr7:109891656-109891657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533925567	chr7:109891693-109891694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529735824	chr7:109891697-109891698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549191556	chr7:109891698-109891699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183283551	chr7:109891704-109891705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536237532	chr7:109891722-109891723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531895970	chr7:109891776-109891777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529877502	chr7:109891787-109891788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551806041	chr7:109891794-109891795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34547409	chr7:109891854-109891855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571872205	chr7:109891858-109891859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188261711	chr7:109891880-109891881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371352806	chr7:109891894-109891895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139969234	chr7:109891923-109891924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs57902311	chr7:109891940-109891941	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs145465733	chr7:109891952-109891953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs13247304	chr7:109892021-109892022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375247611	chr7:109892034-109892035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148811369	chr7:109892075-109892076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112831659	chr7:109892102-109892103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538779333	chr7:109892107-109892108	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109891000-109894000	Enhancers	Fetal Lung	lung
2	chr7:109892800-109893000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:109892800-109893200	Enhancers	Colon Smooth Muscle	Colon
4	chr7:109892800-109893200	Enhancers	Fetal Stomach	stomach
5	chr7:109893000-109893400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:109893000-109893400	Enhancers	Rectal Smooth Muscle	rectum
7	chr7:109893400-109893800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:109893600-109894400	Enhancers	Fetal Thymus	thymus
9	chr7:109910000-109910400	ZNF genes & repeats	Dnd41	blood
10	chr7:109910400-109911200	Weak transcription	Dnd41	blood
11	chr7:109911200-109911600	Enhancers	Dnd41	blood
12	chr7:109911600-109930600	Weak transcription	Dnd41	blood
13	chr7:109920800-109922000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:109921400-109922000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:109921400-109922400	Enhancers	Fetal Intestine Small	intestine
16	chr7:109921600-109921800	Enhancers	A549	lung
17	chr7:109921600-109922400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:109921600-109923200	Enhancers	Fetal Intestine Large	intestine
19	chr7:109921800-109922400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr7:109921800-109922600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr7:109921800-109923200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:109922000-109922400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:109922000-109923200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:109922000-109923400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr7:109922400-109924000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:109922600-109923200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:109923000-109923600	Enhancers	Stomach Mucosa	stomach
28	chr7:109923200-109923400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr7:109924000-109925600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:109925600-109926000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:109926000-109928000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:109928000-109928400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:109934000-109934200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:109934200-109934800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:109934800-109935000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:109934800-109936400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:109935000-109939000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:109936400-109936800	Enhancers	HUVEC	blood vessel
39	chr7:109936400-109937000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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