Variant report

Variant	nsv887789
Chromosome Location	chr7:17226439-17296072
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:19)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:17262945..17265608-chr7:17268479..17271188,2	K562	blood:
2	chr7:17235301..17237244-chr7:17237462..17240094,2	K562	blood:
3	chr10:44864594..44865384-chr7:17269216..17270034,2	MCF-7	breast:
4	chr7:17240479..17243464-chr7:17244945..17247792,2	MCF-7	breast:
5	chr7:17262945..17265608-chr7:17268479..17271188,2	K562	blood:
6	chr7:17267082..17269665-chr7:17336978..17339459,3	MCF-7	breast:
7	chr7:17275720..17278585-chr7:17280393..17282954,2	MCF-7	breast:
8	chr7:17216327..17218821-chr7:17225312..17228115,2	MCF-7	breast:
9	chr7:17245836..17248500-chr7:18215738..18217248,2	K562	blood:
10	chr7:17240479..17243464-chr7:17244945..17247792,2	MCF-7	breast:
11	chr7:17287726..17289941-chr7:17336859..17339589,3	MCF-7	breast:
12	chr6:30773000..30773657-chr7:17286245..17286746,2	HCT-116	colon:
13	chr14:74292932..74293552-chr7:17269167..17269893,2	MCF-7	breast:
14	chr7:17275720..17278585-chr7:17280393..17282954,2	MCF-7	breast:
15	chr7:17277273..17278780-chr7:17330530..17332763,2	MCF-7	breast:
16	chr7:17235301..17237244-chr7:17237462..17240094,2	K562	blood:
17	chr7:17276315..17278756-chr7:17336238..17338418,2	MCF-7	breast:
18	chr7:17294323..17297103-chr7:17297529..17300230,2	K562	blood:
19	chr7:17252549..17254463-chr7:17337327..17339002,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AGR3-5	chr7:17292392-17292672	l_3366_chr7:17218321-17304614_testes
2	lnc-AGR3-5	chr7:17285971-17286261	l_3366_chr7:17218321-17304614_testes
3	lnc-AGR3-5	chr7:17265401-17265477	l_3366_chr7:17218321-17304614_testes
4	lnc-AGR3-5	chr7:17287390-17287462	l_3366_chr7:17218321-17304614_testes

No data

Variant related genes	Relation type
ENSG00000106546	chromatin interactions
ENSG00000237773	chromatin interactions

Extended variants
information (count: 2158 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:2158 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11971406	chr7:17226439-17226440	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79060196	chr7:17226461-17226462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10950650	chr7:17226484-17226485	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs116918725	chr7:17226499-17226500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551640966	chr7:17226520-17226521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183472774	chr7:17226567-17226568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527587256	chr7:17226647-17226648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545773792	chr7:17226648-17226649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552471835	chr7:17226703-17226704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567270143	chr7:17226748-17226749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188890278	chr7:17226768-17226769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145683896	chr7:17226806-17226807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78494225	chr7:17226815-17226816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs193238134	chr7:17226872-17226873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372408233	chr7:17226903-17226904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553947336	chr7:17226915-17226916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566098127	chr7:17226918-17226919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537426844	chr7:17226942-17226943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147319720	chr7:17226948-17226949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148411579	chr7:17226983-17226984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184511043	chr7:17227017-17227018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187851420	chr7:17227041-17227042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1880640	chr7:17227043-17227044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs577458773	chr7:17227072-17227073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142509575	chr7:17227083-17227084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560398999	chr7:17227096-17227097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533845213	chr7:17227108-17227109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191689878	chr7:17227157-17227158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542930294	chr7:17227201-17227202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183828562	chr7:17227217-17227218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150919250	chr7:17227265-17227266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531622195	chr7:17227299-17227300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549409555	chr7:17227361-17227362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140782466	chr7:17227377-17227378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553949500	chr7:17227393-17227394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111823863	chr7:17227442-17227443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188990690	chr7:17227448-17227449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532084987	chr7:17227467-17227468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181434212	chr7:17227474-17227475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143233877	chr7:17227483-17227484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368111282	chr7:17227535-17227536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536470863	chr7:17227540-17227541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1880639	chr7:17227564-17227565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs185184994	chr7:17227639-17227640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537736178	chr7:17227650-17227651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12699832	chr7:17227654-17227655	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs77269930	chr7:17227693-17227694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541553392	chr7:17227702-17227703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553475463	chr7:17227724-17227725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146733834	chr7:17227735-17227736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	22495309	CNVD
Depressive disorder	21152026	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17222800-17226600	Enhancers	HepG2	liver
2	chr7:17223800-17227000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:17225400-17230200	Weak transcription	Brain Hippocampus Middle	brain
4	chr7:17226000-17235000	Weak transcription	Stomach Mucosa	stomach
5	chr7:17226400-17229200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:17226400-17234600	Weak transcription	GM12878-XiMat	blood
7	chr7:17227000-17229000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:17229000-17229800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:17229200-17229600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:17231000-17231400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:17234400-17235000	Enhancers	Primary hematopoietic stem cells	blood
12	chr7:17234400-17235000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:17234400-17235000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:17234400-17235200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr7:17234400-17235400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr7:17234400-17235600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:17234600-17235200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr7:17234600-17235600	Enhancers	GM12878-XiMat	blood
19	chr7:17234800-17235200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:17234800-17235400	Enhancers	Primary B cells from peripheral blood	blood
21	chr7:17238200-17238400	Enhancers	Fetal Intestine Large	intestine
22	chr7:17238600-17241600	Weak transcription	Fetal Intestine Large	intestine
23	chr7:17241600-17241800	Enhancers	Fetal Intestine Large	intestine
24	chr7:17241800-17245400	Weak transcription	Fetal Intestine Large	intestine
25	chr7:17242000-17242400	Enhancers	Fetal Intestine Small	intestine
26	chr7:17244400-17245200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:17244600-17247800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:17244600-17247800	Enhancers	HepG2	liver
29	chr7:17244600-17248200	Enhancers	Primary hematopoietic stem cells	blood
30	chr7:17244800-17245600	Enhancers	A549	lung
31	chr7:17245200-17246200	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr7:17245200-17247400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:17245200-17248000	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr7:17245400-17246200	Enhancers	K562	blood
35	chr7:17245400-17247200	Enhancers	Dnd41	blood
36	chr7:17245400-17247400	Enhancers	Fetal Intestine Large	intestine
37	chr7:17245400-17247400	Enhancers	Fetal Intestine Small	intestine
38	chr7:17245400-17247600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:17245400-17247600	Enhancers	Hela-S3	cervix
40	chr7:17245600-17246600	Flanking Active TSS	A549	lung
41	chr7:17245800-17246600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr7:17245800-17246600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr7:17245800-17247400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:17246000-17246400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr7:17246000-17247400	Enhancers	HMEC	breast
46	chr7:17246000-17247400	Enhancers	NHEK	skin
47	chr7:17246000-17247600	Enhancers	HUVEC	blood vessel
48	chr7:17246200-17246600	Enhancers	Duodenum Mucosa	Duodenum
49	chr7:17246200-17246800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr7:17246200-17247000	Weak transcription	K562	blood

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