Variant report

Variant	nsv1035018
Chromosome Location	chr7:3247224-3284698
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3256947..3259532-chr7:3270807..3273199,2	MCF-7	breast:
2	chr7:3256947..3259532-chr7:3270807..3273199,2	MCF-7	breast:
3	chr7:3254376..3256017-chr7:3281440..3283827,2	MCF-7	breast:
4	chr7:3254572..3259584-chr7:3282203..3284323,4	MCF-7	breast:
5	chr7:3254030..3256348-chr7:3338235..3340171,2	MCF-7	breast:
6	chr7:3253620..3255788-chr7:3339992..3342861,2	MCF-7	breast:
7	chr7:3255932..3258041-chr7:3261586..3263750,2	MCF-7	breast:
8	chr7:3276084..3280543-chr7:3282350..3285635,4	MCF-7	breast:
9	chr7:3255775..3258559-chr7:3276222..3279313,3	MCF-7	breast:
10	chr7:3255528..3257837-chr7:3259945..3262892,2	MCF-7	breast:
11	chr7:3254376..3256017-chr7:3281440..3283827,2	MCF-7	breast:
12	chr7:3278981..3281763-chr7:3282187..3285186,3	K562	blood:
13	chr7:3250247..3250807-chr7:3340190..3341077,3	MCF-7	breast:
14	chr1:192410577..192412599-chr7:3273666..3275762,2	MCF-7	breast:
15	chr7:3255245..3256305-chr7:3283809..3284534,3	MCF-7	breast:
16	chr7:3276084..3280543-chr7:3282350..3285635,4	MCF-7	breast:
17	chr7:3255775..3258559-chr7:3276222..3279313,3	MCF-7	breast:
18	chr7:3278324..3280048-chr7:3280557..3282668,2	K562	blood:
19	chr7:3249846..3250536-chr7:3341685..3342449,3	MCF-7	breast:
20	chr7:3254337..3257238-chr7:3340637..3342323,2	MCF-7	breast:
21	chr7:3284325..3287180-chr7:3291361..3294316,3	MCF-7	breast:
22	chr7:3278324..3280048-chr7:3280557..3282668,2	K562	blood:
23	chr7:3278981..3281763-chr7:3282187..3285186,3	K562	blood:
24	chr7:3255245..3256305-chr7:3283809..3284534,3	MCF-7	breast:
25	chr7:3255932..3258041-chr7:3261586..3263750,2	MCF-7	breast:
26	chr7:3251471..3253553-chr7:3281258..3284246,2	MCF-7	breast:
27	chr7:3283973..3284780-chr7:3307461..3308331,2	MCF-7	breast:
28	chr7:3272491..3276076-chr7:3339000..3342579,3	MCF-7	breast:
29	chr7:3196705..3199377-chr7:3282005..3284080,2	MCF-7	breast:
30	chr7:3251471..3253553-chr7:3281258..3284246,2	MCF-7	breast:
31	chr7:3254572..3259584-chr7:3282203..3284323,4	MCF-7	breast:
32	chr7:3255528..3257837-chr7:3259945..3262892,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000217455	chromatin interactions
ENSG00000236708	chromatin interactions
ENSG00000146555	chromatin interactions

Extended variants
information (count: 1886 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1886 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182682405	chr7:3247241-3247242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187753613	chr7:3247251-3247252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs118095153	chr7:3247269-3247270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143966248	chr7:3247270-3247271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6962256	chr7:3247289-3247290	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs564520921	chr7:3247352-3247353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368237060	chr7:3247384-3247385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570015500	chr7:3247407-3247408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6946505	chr7:3247410-3247411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs7798967	chr7:3247426-3247427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs566930468	chr7:3247434-3247435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529462268	chr7:3247437-3247438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549183266	chr7:3247466-3247467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568573602	chr7:3247546-3247547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11303074	chr7:3247553-3247554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537550459	chr7:3247555-3247556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557326303	chr7:3247559-3247560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs398003442	chr7:3247565-3247566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200819669	chr7:3247568-3247569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201823412	chr7:3247569-3247570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192389908	chr7:3247591-3247592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184628907	chr7:3247597-3247598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554060030	chr7:3247601-3247602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573872522	chr7:3247674-3247675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188699776	chr7:3247678-3247679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192691245	chr7:3247690-3247691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575807458	chr7:3247724-3247725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143180735	chr7:3247736-3247737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11972872	chr7:3247758-3247759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7799460	chr7:3247762-3247763	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs73041529	chr7:3247799-3247800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs572018429	chr7:3247813-3247814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529570340	chr7:3247827-3247828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368881104	chr7:3247839-3247840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146655968	chr7:3247842-3247843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539318946	chr7:3247862-3247863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533540122	chr7:3247885-3247886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13229228	chr7:3247886-3247887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531296374	chr7:3247895-3247896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28396682	chr7:3247898-3247899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs566780353	chr7:3247931-3247932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184302100	chr7:3247940-3247941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547092174	chr7:3247943-3247944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567509744	chr7:3247958-3247959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536202771	chr7:3247966-3247967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188978710	chr7:3247974-3247975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140407239	chr7:3247975-3247976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144127844	chr7:3247992-3247993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116484309	chr7:3247996-3247997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs151007328	chr7:3248002-3248003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	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
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:212 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3244600-3251400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:3246000-3248400	Weak transcription	Gastric	stomach
3	chr7:3246800-3251400	Weak transcription	Pancreas	Pancrea
4	chr7:3248800-3249000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:3251400-3251600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:3251400-3252000	Enhancers	Pancreas	Pancrea
7	chr7:3252000-3253200	Weak transcription	Pancreas	Pancrea
8	chr7:3253200-3253800	Enhancers	Pancreas	Pancrea
9	chr7:3253800-3255400	Weak transcription	Pancreas	Pancrea
10	chr7:3254000-3254200	Enhancers	Aorta	Aorta
11	chr7:3254200-3256600	Weak transcription	Aorta	Aorta
12	chr7:3255400-3256200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr7:3255400-3256200	Enhancers	Esophagus	oesophagus
14	chr7:3255400-3256200	Enhancers	Gastric	stomach
15	chr7:3255400-3257200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:3255400-3257200	Enhancers	Pancreas	Pancrea
17	chr7:3255600-3258400	Enhancers	Left Ventricle	heart
18	chr7:3255600-3258800	Enhancers	Stomach Mucosa	stomach
19	chr7:3256000-3256200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr7:3256000-3257200	Enhancers	Right Ventricle	heart
21	chr7:3256000-3258200	Enhancers	Fetal Heart	heart
22	chr7:3256200-3257000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr7:3256200-3257800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr7:3256600-3256800	Enhancers	Aorta	Aorta
25	chr7:3256800-3257000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:3256800-3257600	Weak transcription	Aorta	Aorta
27	chr7:3257000-3257400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:3257000-3257400	Enhancers	Brain Hippocampus Middle	brain
29	chr7:3257000-3258800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr7:3257200-3258400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:3257200-3258800	Weak transcription	Right Ventricle	heart
32	chr7:3257200-3259000	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr7:3257200-3260000	Weak transcription	Pancreas	Pancrea
34	chr7:3257400-3257800	Weak transcription	Brain Hippocampus Middle	brain
35	chr7:3257600-3257800	Enhancers	Aorta	Aorta
36	chr7:3257600-3258200	Enhancers	Right Atrium	heart
37	chr7:3257600-3259000	Enhancers	Fetal Brain Female	brain
38	chr7:3257800-3258200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr7:3257800-3258200	Weak transcription	Aorta	Aorta
40	chr7:3257800-3258600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:3257800-3258800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr7:3257800-3258800	Enhancers	Brain Hippocampus Middle	brain
43	chr7:3257800-3258800	Enhancers	Stomach Smooth Muscle	stomach
44	chr7:3257800-3259000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr7:3257800-3259000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr7:3257800-3259000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr7:3257800-3259000	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr7:3257800-3259400	Enhancers	HepG2	liver
49	chr7:3258000-3258200	Flanking Active TSS	HSMMtube	muscle
50	chr7:3258000-3258400	Enhancers	HUES48 Cell Line	embryonic stem cell

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