Variant report

Variant	nsv889387
Chromosome Location	chr7:145903862-146239545
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:30)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:146218663..146220182-chr7:146222082..146223804,2	K562	blood:
2	chr7:146077123..146080368-chr7:146083154..146084711,3	K562	blood:
3	chr7:145993936..145995557-chr7:145997586..145999222,2	K562	blood:
4	chr7:146185198..146188114-chr7:146194009..146195927,2	K562	blood:
5	chr7:145993957..145995557-chr7:145997071..145999086,2	K562	blood:
6	chr7:146233829..146237981-chr7:146239048..146242381,3	K562	blood:
7	chr7:146161322..146163893-chr7:146165788..146167322,2	K562	blood:
8	chr7:146143168..146145467-chr7:146146129..146147911,2	MCF-7	breast:
9	chr7:146185198..146188114-chr7:146194009..146195927,2	K562	blood:
10	chr7:146074528..146076132-chr7:146081076..146083881,2	K562	blood:
11	chr7:145993936..145995557-chr7:145997586..145999222,2	K562	blood:
12	chr7:145988038..145989736-chr7:145992431..145994390,2	MCF-7	breast:
13	chr7:146074528..146076132-chr7:146081076..146083881,2	K562	blood:
14	chr7:146077363..146079072-chr7:146098860..146101793,2	K562	blood:
15	chr7:145993957..145995557-chr7:145997071..145999086,2	K562	blood:
16	chr7:146143168..146145467-chr7:146146129..146147911,2	MCF-7	breast:
17	chr7:146218663..146220182-chr7:146222082..146223804,2	K562	blood:
18	chr7:145950902..145953007-chr7:145958921..145960745,2	K562	blood:
19	chr7:145931221..145934684-chr7:145937680..145940356,3	K562	blood:
20	chr7:145950902..145953007-chr7:145958921..145960745,2	K562	blood:
21	chr7:146077123..146080368-chr7:146083154..146084711,3	K562	blood:
22	chr7:146161322..146163893-chr7:146165788..146167322,2	K562	blood:
23	chr5:40835299..40835996-chr7:145980649..145981149,2	Hela-S3	cervix:
24	chr7:146210624..146213403-chr7:146216650..146219300,2	MCF-7	breast:
25	chr7:145931221..145934684-chr7:145937680..145940356,3	K562	blood:
26	chr7:146077363..146079072-chr7:146098860..146101793,2	K562	blood:
27	chr7:146210624..146213403-chr7:146216650..146219300,2	MCF-7	breast:
28	chr7:146233829..146237981-chr7:146239048..146242381,3	K562	blood:
29	chr7:146235172..146238852-chr7:146239684..146242381,3	K562	blood:
30	chr7:145988038..145989736-chr7:145992431..145994390,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TPK1-4	chr7:146113435-146113645	NONHSAT123948

No data

Variant related genes	Relation type
ENSG00000145592	chromatin interactions

Extended variants
information (count: 6260 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:6260 , 50 per page) page: 1 2 3 4 5 6 7 ... 126

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7778508	chr7:145903862-145903863	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554312273	chr7:145903864-145903865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187701204	chr7:145903865-145903866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541776373	chr7:145903880-145903881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560109484	chr7:145903899-145903900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545176146	chr7:145903902-145903903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568395116	chr7:145903912-145903913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112058162	chr7:145903946-145903947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs578240877	chr7:145903948-145903949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114170128	chr7:145903968-145903969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563855438	chr7:145903978-145903979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139966119	chr7:145904042-145904043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144962943	chr7:145904095-145904096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561159044	chr7:145904115-145904116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528445834	chr7:145904122-145904123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73739548	chr7:145904127-145904128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs571218070	chr7:145904179-145904180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147928376	chr7:145904181-145904182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550551357	chr7:145904220-145904221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569027474	chr7:145904228-145904229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535999975	chr7:145904229-145904230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554630014	chr7:145904237-145904238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141803737	chr7:145904247-145904248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10268545	chr7:145904251-145904252	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs541619518	chr7:145904265-145904266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147088340	chr7:145904281-145904282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192356519	chr7:145904285-145904286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545711849	chr7:145904295-145904296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559690319	chr7:145904313-145904314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73162122	chr7:145904323-145904324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185768639	chr7:145904326-145904327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188218770	chr7:145904350-145904351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371902439	chr7:145904351-145904352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145489828	chr7:145904360-145904361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561631997	chr7:145904381-145904382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528526325	chr7:145904459-145904460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530460380	chr7:145904461-145904462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564934438	chr7:145904481-145904482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148854092	chr7:145904504-145904505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550839899	chr7:145904542-145904543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143429767	chr7:145904558-145904559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536471617	chr7:145904616-145904617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548044797	chr7:145904623-145904624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147988476	chr7:145904628-145904629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73453803	chr7:145904662-145904663	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs558630258	chr7:145904724-145904725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7787146	chr7:145904726-145904727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs57881187	chr7:145904730-145904731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7787255	chr7:145904734-145904735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71175642	chr7:145904744-145904745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Wilms tumour	21544195	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Cancer	20164919	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Epilepsy	20502679	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD

Chromatin state (count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145891600-145924800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:145896600-145912200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:145905800-145907200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr7:145911200-145925000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:145911200-145932000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:145911400-145932000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:145911600-145932000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:145912000-145924600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:145912200-145914600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:145912400-145912600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr7:145912600-145945200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr7:145914600-145916600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:145915800-145918000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:145916600-145917800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:145917800-145919400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:145918000-145918400	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:145918400-145925000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:145918800-145942600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:145919400-145920400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:145920200-145920600	Enhancers	Fetal Muscle Leg	muscle
21	chr7:145920400-145922200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:145921800-145924800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:145922200-145923800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:145922600-145922800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:145922800-145943600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:145923800-145925000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:145924600-145925600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr7:145924800-145925400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr7:145924800-145925600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr7:145924800-145925800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr7:145924800-145927400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr7:145925000-145925400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:145925000-145925400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr7:145925000-145925400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr7:145925400-145926200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr7:145925400-145928600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:145925400-145931800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr7:145925400-145935200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr7:145925600-145926600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr7:145925600-145932800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr7:145925800-145931800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr7:145926200-145927000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr7:145926600-145927200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr7:145927000-145931800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr7:145927200-145932400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr7:145927400-145931800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr7:145928600-145930200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:145930200-145931800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:145931800-145932800	Enhancers	Brain Cingulate Gyrus	brain
50	chr7:145931800-145935000	Strong transcription	HUES48 Cell Line	embryonic stem cell

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