Variant report

Variant	nsv889160
Chromosome Location	chr7:125468407-125543391
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:125503485..125505838-chr7:125510638..125513517,2	K562	blood:
2	chr7:125480828..125483147-chr7:125484662..125486648,3	K562	blood:
3	chr7:125480828..125483147-chr7:125484662..125486648,3	K562	blood:
4	chr7:125466756..125469484-chr9:139938867..139941802,2	MCF-7	breast:
5	chr7:125531353..125533872-chr7:125536141..125538542,2	K562	blood:
6	chr7:125531353..125533872-chr7:125536141..125538542,2	K562	blood:
7	chr7:125503485..125505838-chr7:125510638..125513517,2	K562	blood:
8	chr7:125459178..125461778-chr7:125471242..125473065,2	K562	blood:
9	chr7:125392984..125395323-chr7:125485232..125486912,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000107281	chromatin interactions

Extended variants
information (count: 911 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:911 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10272687	chr7:125468407-125468408	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551176700	chr7:125468425-125468426	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs547678137	chr7:125468442-125468443	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs138899846	chr7:125468450-125468451	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs530065216	chr7:125468451-125468452	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs548261685	chr7:125468464-125468465	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs536776160	chr7:125468471-125468472	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs550635682	chr7:125468509-125468510	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs185328504	chr7:125468511-125468512	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs189827709	chr7:125468512-125468513	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs73446391	chr7:125468568-125468569	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs181091051	chr7:125468642-125468643	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs10243926	chr7:125468675-125468676	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs4728030	chr7:125468681-125468682	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs186623656	chr7:125468695-125468696	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs188044651	chr7:125468753-125468754	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs180947007	chr7:125468776-125468777	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs554618395	chr7:125468796-125468797	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs576176781	chr7:125468826-125468827	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs137963181	chr7:125468897-125468898	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs372304691	chr7:125468901-125468902	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs186196825	chr7:125468925-125468926	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs540964434	chr7:125468931-125468932	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs559634803	chr7:125468936-125468937	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs529954101	chr7:125468937-125468938	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs541794072	chr7:125469058-125469059	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs10244452	chr7:125469062-125469063	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs142457056	chr7:125469106-125469107	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs544418095	chr7:125469108-125469109	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs143888871	chr7:125469139-125469140	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs570956216	chr7:125469160-125469161	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs191059187	chr7:125469167-125469168	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs148607796	chr7:125469193-125469194	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs568734296	chr7:125469249-125469250	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs4521706	chr7:125469254-125469255	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs112241270	chr7:125469265-125469266	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs569678347	chr7:125469279-125469280	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs536738416	chr7:125469303-125469304	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs77990376	chr7:125469307-125469308	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs576946694	chr7:125469318-125469319	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs541186678	chr7:125469330-125469331	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs552771296	chr7:125469345-125469346	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs574346959	chr7:125469363-125469364	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs372388390	chr7:125469369-125469370	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs563335851	chr7:125469372-125469373	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs530983685	chr7:125469378-125469379	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs564968055	chr7:125469385-125469386	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs545962148	chr7:125469433-125469434	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs207468558	chr7:125469450-125469451	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs184661427	chr7:125472612-125472613	Weak transcription	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
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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	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
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20858243	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125472600-125481800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:125474000-125474800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:125481800-125482000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:125486400-125486600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:125486800-125489400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:125487000-125487600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
7	chr7:125487400-125487600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr7:125487400-125487800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr7:125487400-125488400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr7:125487600-125488000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:125487600-125488200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:125487600-125488200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:125487600-125488400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:125487600-125488600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:125487600-125488600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:125487800-125488200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:125488000-125488200	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr7:125488000-125488400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:125488200-125488400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr7:125488200-125488400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:125488200-125488600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr7:125488200-125488800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:125488400-125488600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr7:125488400-125488600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:125488400-125488800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr7:125488400-125488800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr7:125488400-125491400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:125488800-125489000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr7:125488800-125490200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:125490200-125490600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr7:125490400-125490600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr7:125493400-125493600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:125515400-125515800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:125516000-125516600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
35	chr7:125516400-125518400	Enhancers	Hela-S3	cervix
36	chr7:125518400-125518800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:125518400-125518800	Flanking Active TSS	Hela-S3	cervix
38	chr7:125518800-125519200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:125518800-125519200	Active TSS	Hela-S3	cervix
40	chr7:125519200-125519600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:125519200-125519600	Flanking Active TSS	Hela-S3	cervix
42	chr7:125519600-125519800	Enhancers	Hela-S3	cervix
43	chr7:125533200-125534600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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