Variant report

Variant	nsv887779
Chromosome Location	chr7:17160612-17219888
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:38)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:17170011..17170749-chr7:17197590..17198136,2	MCF-7	breast:
2	chr7:17170396..17172452-chr7:17178036..17180401,2	MCF-7	breast:
3	chr7:17187103..17188839-chr7:17190242..17191952,2	K562	blood:
4	chr7:17172585..17174356-chr7:17177183..17179182,2	K562	blood:
5	chr7:17167106..17169974-chr7:17169977..17172043,2	K562	blood:
6	chr7:17172304..17174827-chr7:17192186..17193688,2	MCF-7	breast:
7	chr7:17177869..17180663-chr7:17182407..17185712,4	MCF-7	breast:
8	chr7:17048460..17049301-chr7:17197592..17198341,2	MCF-7	breast:
9	chr7:17174176..17175703-chr7:17181460..17183811,2	MCF-7	breast:
10	chr7:17174176..17175703-chr7:17181460..17183811,2	MCF-7	breast:
11	chr7:17212673..17214614-chr7:17217204..17219643,2	MCF-7	breast:
12	chr7:17167106..17169974-chr7:17169977..17172043,2	K562	blood:
13	chr7:17022004..17022890-chr7:17197303..17198260,4	MCF-7	breast:
14	chr7:17209053..17211807-chr7:17213583..17216360,2	K562	blood:
15	chr7:17172585..17174356-chr7:17177183..17179182,2	K562	blood:
16	chr7:17170396..17172452-chr7:17178036..17180401,2	MCF-7	breast:
17	chr7:17187339..17189140-chr7:17189260..17191952,2	K562	blood:
18	chr7:17172856..17174534-chr7:17177183..17178818,2	K562	blood:
19	chr7:17213957..17216585-chr7:17218859..17220590,2	K562	blood:
20	chr7:17212673..17214614-chr7:17217204..17219643,2	MCF-7	breast:
21	chr7:17213957..17216585-chr7:17218859..17220590,2	K562	blood:
22	chr7:17166582..17168256-chr7:17172777..17175258,2	K562	blood:
23	chr7:17166582..17168256-chr7:17172777..17175258,2	K562	blood:
24	chr7:17216327..17218821-chr7:17225312..17228115,2	MCF-7	breast:
25	chr7:17168106..17170746-chr7:17337084..17338784,2	MCF-7	breast:
26	chr7:17197527..17200451-chr7:17338316..17340817,2	MCF-7	breast:
27	chr7:17209053..17211807-chr7:17213583..17216360,2	K562	blood:
28	chr7:17170011..17170749-chr7:17197590..17198136,2	MCF-7	breast:
29	chr7:17197585..17198516-chr7:17340641..17341294,2	MCF-7	breast:
30	chr7:17208762..17211542-chr7:17338009..17340121,2	MCF-7	breast:
31	chr7:17164984..17168606-chr7:17170506..17172201,3	K562	blood:
32	chr7:17187103..17188839-chr7:17190242..17191952,2	K562	blood:
33	chr7:17187339..17189140-chr7:17189260..17191952,2	K562	blood:
34	chr7:17172304..17174827-chr7:17192186..17193688,2	MCF-7	breast:
35	chr7:17218892..17220636-chr7:17223919..17226233,2	K562	blood:
36	chr7:17164984..17168606-chr7:17170506..17172201,3	K562	blood:
37	chr7:17177869..17180663-chr7:17182407..17185712,4	MCF-7	breast:
38	chr7:17172856..17174534-chr7:17177183..17178818,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AGR3-5	chr7:17218322-17218602	l_3366_chr7:17218321-17304614_testes

No data

Variant related genes	Relation type
ENSG00000237773	chromatin interactions
ENSG00000106546	chromatin interactions

Extended variants
information (count: 2428 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:2428 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6973364	chr7:17160612-17160613	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs369278178	chr7:17160613-17160614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35470710	chr7:17160631-17160632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369343741	chr7:17160632-17160633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184605196	chr7:17160634-17160635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532787715	chr7:17160649-17160650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572984625	chr7:17160664-17160665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143580543	chr7:17160670-17160671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559843040	chr7:17160709-17160710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148090283	chr7:17160715-17160716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141830593	chr7:17160801-17160802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538001201	chr7:17160843-17160844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569988002	chr7:17160844-17160845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541667019	chr7:17160878-17160879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554604731	chr7:17160911-17160912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189171246	chr7:17160931-17160932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181576886	chr7:17160974-17160975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574778460	chr7:17160992-17160993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565354441	chr7:17161001-17161002	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs185314609	chr7:17161029-17161030	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs553546232	chr7:17161033-17161034	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs572289154	chr7:17161040-17161041	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs536505868	chr7:17161047-17161048	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs554269510	chr7:17161056-17161057	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs532518537	chr7:17161089-17161090	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs28460389	chr7:17161118-17161119	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs565002207	chr7:17161125-17161126	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs577009487	chr7:17161135-17161136	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs190578777	chr7:17161202-17161203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559858984	chr7:17161207-17161208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530332673	chr7:17161257-17161258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548836691	chr7:17161260-17161261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563551569	chr7:17161266-17161267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530845176	chr7:17161275-17161276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374689067	chr7:17161276-17161277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147282322	chr7:17161282-17161283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570657480	chr7:17161315-17161316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112354813	chr7:17161366-17161367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140809549	chr7:17161414-17161415	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs11772785	chr7:17161429-17161430	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs547282611	chr7:17161507-17161508	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs545600514	chr7:17161632-17161633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565819215	chr7:17161691-17161692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536177822	chr7:17161695-17161696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554814090	chr7:17161699-17161700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181409275	chr7:17161780-17161781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562555892	chr7:17161784-17161785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558579495	chr7:17161834-17161835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377728149	chr7:17161896-17161897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577024573	chr7:17161922-17161923	Weak transcription Enhancers	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
Breast cancer	22522925	CNVD

Chromatin state (count:667 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17158800-17163600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr7:17159000-17161000	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr7:17159200-17162800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr7:17159400-17162800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr7:17159600-17161200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:17159800-17163600	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr7:17160200-17160800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:17160200-17160800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:17160600-17160800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:17160600-17161200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:17160800-17162600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:17160800-17162600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:17160800-17162600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:17161000-17161200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:17161000-17161200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr7:17161000-17161200	Enhancers	NHLF	lung
17	chr7:17161000-17162600	Enhancers	Osteobl	bone
18	chr7:17161200-17161400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr7:17161200-17162200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:17161200-17162200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:17161200-17162400	Weak transcription	NHLF	lung
22	chr7:17161200-17162600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:17161200-17162800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:17161400-17161600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:17161400-17161600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr7:17161600-17162200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:17161600-17162200	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr7:17161600-17162400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:17162200-17162400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:17162200-17162800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:17162200-17162800	Enhancers	GM12878-XiMat	blood
32	chr7:17162200-17163200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr7:17162200-17163200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:17162200-17163400	Enhancers	Hela-S3	cervix
35	chr7:17162200-17163400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr7:17162400-17162600	Enhancers	NHLF	lung
37	chr7:17162400-17162800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:17162400-17162800	Enhancers	NHDF-Ad	bronchial
39	chr7:17162400-17163200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:17162400-17163400	Enhancers	Primary B cells from cord blood	blood
41	chr7:17162400-17163400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr7:17162600-17162800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:17162600-17162800	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
44	chr7:17162600-17162800	Flanking Active TSS	Osteobl	bone
45	chr7:17162600-17163000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:17162600-17163000	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr7:17162600-17163000	Enhancers	Primary B cells from peripheral blood	blood
48	chr7:17162600-17163000	Enhancers	Primary hematopoietic stem cells	blood
49	chr7:17162600-17163000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:17162600-17163000	Enhancers	Cortex derived primary cultured neurospheres	brain

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