Variant report

Variant	nsv1017958
Chromosome Location	chr7:15910153-15956470
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:15929324..15929882-chr7:16110722..16111472,2	MCF-7	breast:
2	chr7:15760297..15761259-chr7:15928859..15929813,2	MCF-7	breast:
3	chr7:15948178..15950643-chr7:15952055..15954693,2	K562	blood:
4	chr7:15948178..15950643-chr7:15952055..15954693,2	K562	blood:
5	chr7:15915546..15916445-chrX:135278373..135279080,2	K562	blood:
6	chr7:15955267..15957693-chr7:15974761..15976318,2	MCF-7	breast:
7	chr7:15933780..15936656-chr7:15941908..15943876,2	K562	blood:
8	chr7:15933780..15936656-chr7:15941908..15943876,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000022267	chromatin interactions

Extended variants
information (count: 1151 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1151 , 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	rs38199	chr7:15910153-15910154	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552299671	chr7:15910157-15910158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34084221	chr7:15910193-15910194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116375462	chr7:15910220-15910221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs38200	chr7:15910229-15910230	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs183974480	chr7:15910235-15910236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140648765	chr7:15910241-15910242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs36030315	chr7:15910250-15910251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535601876	chr7:15910306-15910307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550651210	chr7:15910307-15910308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568971750	chr7:15910331-15910332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539649277	chr7:15910336-15910337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187416350	chr7:15910355-15910356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573491549	chr7:15910390-15910391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190989727	chr7:15910392-15910393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79178278	chr7:15910401-15910402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114372312	chr7:15910423-15910424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536484342	chr7:15910442-15910443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117748177	chr7:15910463-15910464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563374257	chr7:15910478-15910479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12535454	chr7:15910485-15910486	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs200724169	chr7:15910505-15910506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113585589	chr7:15910506-15910507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377575515	chr7:15910507-15910508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397701399	chr7:15910512-15910513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77519400	chr7:15910513-15910514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76702350	chr7:15910524-15910525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182120318	chr7:15910575-15910576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116488125	chr7:15910600-15910601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561788123	chr7:15910621-15910622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529259926	chr7:15910636-15910637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373416095	chr7:15910637-15910638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545156111	chr7:15910684-15910685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376397336	chr7:15910694-15910695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs118161094	chr7:15910749-15910750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116127713	chr7:15910789-15910790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533235336	chr7:15910822-15910823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551715765	chr7:15910835-15910836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186802977	chr7:15910863-15910864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534262322	chr7:15910901-15910902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79492296	chr7:15910913-15910914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567910356	chr7:15910916-15910917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145903177	chr7:15910935-15910936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191681876	chr7:15910949-15910950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114472419	chr7:15910954-15910955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552242410	chr7:15910969-15910970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572984848	chr7:15910988-15910989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540012737	chr7:15911049-15911050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138495663	chr7:15911062-15911063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141996592	chr7:15911069-15911070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Colorectal cancer	16272173	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15908600-15912200	Weak transcription	Pancreas	Pancrea
2	chr7:15909800-15910800	Enhancers	Fetal Intestine Large	intestine
3	chr7:15910000-15910800	Enhancers	Fetal Intestine Small	intestine
4	chr7:15910000-15911000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:15912200-15912600	ZNF genes & repeats	Pancreas	Pancrea
6	chr7:15914000-15915000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:15914200-15914800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:15914400-15914800	Enhancers	Fetal Lung	lung
9	chr7:15914600-15915000	Enhancers	Fetal Stomach	stomach
10	chr7:15924000-15929200	Weak transcription	Psoas Muscle	Psoas
11	chr7:15924600-15925000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:15924600-15925800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr7:15924800-15925600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:15925000-15925600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:15925000-15926000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:15925800-15926200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:15926000-15927800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:15926200-15926600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr7:15927600-15929600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:15927800-15928000	Weak transcription	Left Ventricle	heart
21	chr7:15927800-15928400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:15928000-15928200	Enhancers	Left Ventricle	heart
23	chr7:15928000-15928200	Enhancers	Right Atrium	heart
24	chr7:15928200-15929200	Weak transcription	Left Ventricle	heart
25	chr7:15928200-15929200	Weak transcription	Right Atrium	heart
26	chr7:15928400-15928600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:15928600-15930600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:15929000-15929400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr7:15929000-15929600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:15929000-15929600	Enhancers	NHDF-Ad	bronchial
31	chr7:15929200-15929400	Enhancers	Adipose Nuclei	Adipose
32	chr7:15929200-15929400	Enhancers	Left Ventricle	heart
33	chr7:15929200-15929400	Enhancers	Rectal Smooth Muscle	rectum
34	chr7:15929200-15929400	Enhancers	Osteobl	bone
35	chr7:15929200-15929600	Enhancers	Fetal Intestine Large	intestine
36	chr7:15929200-15929600	Enhancers	Psoas Muscle	Psoas
37	chr7:15929200-15929600	Enhancers	Right Atrium	heart
38	chr7:15929400-15929600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:15929400-15929600	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr7:15929400-15929600	Enhancers	Fetal Intestine Small	intestine
41	chr7:15929400-15929800	Active TSS	Left Ventricle	heart
42	chr7:15929400-15930400	Weak transcription	Osteobl	bone
43	chr7:15929600-15929800	Active TSS	Adipose Nuclei	Adipose
44	chr7:15929600-15930200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:15929600-15930400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:15929600-15930600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:15929600-15930600	Weak transcription	NHDF-Ad	bronchial
48	chr7:15929600-15931200	Weak transcription	Fetal Intestine Large	intestine
49	chr7:15929600-15931200	Weak transcription	Fetal Intestine Small	intestine
50	chr7:15929600-15933600	Weak transcription	Psoas Muscle	Psoas

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