Variant report

Variant	nsv605884
Chromosome Location	chr7:3271998-3320172
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:20)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3254572..3259584-chr7:3282203..3284323,4	MCF-7	breast:
2	chr7:3255245..3256305-chr7:3283809..3284534,3	MCF-7	breast:
3	chr7:3278981..3281763-chr7:3282187..3285186,3	K562	blood:
4	chr7:3283973..3284780-chr7:3307461..3308331,2	MCF-7	breast:
5	chr7:3276084..3280543-chr7:3282350..3285635,4	MCF-7	breast:
6	chr7:3284325..3287180-chr7:3291361..3294316,3	MCF-7	breast:
7	chr7:3256947..3259532-chr7:3270807..3273199,2	MCF-7	breast:
8	chr7:3318661..3320574-chr7:3339181..3342087,2	MCF-7	breast:
9	chr7:3254376..3256017-chr7:3281440..3283827,2	MCF-7	breast:
10	chr7:3276084..3280543-chr7:3282350..3285635,4	MCF-7	breast:
11	chr7:3272491..3276076-chr7:3339000..3342579,3	MCF-7	breast:
12	chr7:3283973..3284780-chr7:3307461..3308331,2	MCF-7	breast:
13	chr7:3278324..3280048-chr7:3280557..3282668,2	K562	blood:
14	chr7:3255775..3258559-chr7:3276222..3279313,3	MCF-7	breast:
15	chr7:3196705..3199377-chr7:3282005..3284080,2	MCF-7	breast:
16	chr7:3284325..3287180-chr7:3291361..3294316,3	MCF-7	breast:
17	chr7:3278324..3280048-chr7:3280557..3282668,2	K562	blood:
18	chr7:3251471..3253553-chr7:3281258..3284246,2	MCF-7	breast:
19	chr7:3278981..3281763-chr7:3282187..3285186,3	K562	blood:
20	chr1:192410577..192412599-chr7:3273666..3275762,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC091801.1.1-6	chr7:3303664-3304421	ENSG00000236708.1

No data

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

Extended variants
information (count: 2379 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2379 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11972265	chr7:3271998-3271999	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148821789	chr7:3272004-3272005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35821066	chr7:3272007-3272008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574350281	chr7:3272019-3272020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143627872	chr7:3272041-3272042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11974687	chr7:3272056-3272057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544527321	chr7:3272061-3272062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368257710	chr7:3272063-3272064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73041592	chr7:3272068-3272069	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs187089509	chr7:3272070-3272071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546815979	chr7:3272071-3272072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28432913	chr7:3272123-3272124	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs535091190	chr7:3272137-3272138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138109499	chr7:3272140-3272141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527625754	chr7:3272150-3272151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34790539	chr7:3272162-3272163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549237763	chr7:3272173-3272174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117878749	chr7:3272227-3272228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537443468	chr7:3272241-3272242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557366752	chr7:3272253-3272254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191949276	chr7:3272258-3272259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10227305	chr7:3272267-3272268	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs560386061	chr7:3272282-3272283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545619425	chr7:3272373-3272374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559922820	chr7:3272391-3272392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141049076	chr7:3272410-3272411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369228572	chr7:3272472-3272473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10951131	chr7:3272526-3272527	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
29	rs59885813	chr7:3272588-3272589	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs561456297	chr7:3272594-3272595	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs183624902	chr7:3272597-3272598	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs186799705	chr7:3272685-3272686	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs377176637	chr7:3272696-3272697	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs199772934	chr7:3272712-3272713	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs193222883	chr7:3272719-3272720	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs78967306	chr7:3272720-3272721	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs531429966	chr7:3272721-3272722	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs549750117	chr7:3272736-3272737	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs571731781	chr7:3272749-3272750	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs533293846	chr7:3272752-3272753	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs569344943	chr7:3272766-3272767	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs546458512	chr7:3272782-3272783	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs568269977	chr7:3272801-3272802	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs7782242	chr7:3272806-3272807	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs535653244	chr7:3272862-3272863	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs369581765	chr7:3272873-3272874	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs62439555	chr7:3272897-3272898	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs568614160	chr7:3272909-3272910	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs532462809	chr7:3272911-3272912	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs533970551	chr7:3272912-3272913	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:403 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3267600-3273000	Weak transcription	Aorta	Aorta
2	chr7:3271600-3272000	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr7:3271600-3272600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:3271600-3272800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:3271800-3272000	Enhancers	Fetal Heart	heart
6	chr7:3271800-3272000	Enhancers	Fetal Lung	lung
7	chr7:3271800-3272000	Enhancers	Left Ventricle	heart
8	chr7:3271800-3272000	Enhancers	Right Atrium	heart
9	chr7:3271800-3272200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:3271800-3272200	Enhancers	HSMMtube	muscle
11	chr7:3272000-3272400	Enhancers	Adipose Nuclei	Adipose
12	chr7:3272000-3272800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:3272000-3272800	Weak transcription	Left Ventricle	heart
14	chr7:3272000-3273000	Weak transcription	Fetal Heart	heart
15	chr7:3272000-3273200	Weak transcription	Right Atrium	heart
16	chr7:3272600-3273200	Enhancers	Primary T cells from cord blood	blood
17	chr7:3272800-3273000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:3272800-3273000	Enhancers	Left Ventricle	heart
19	chr7:3273000-3273400	Enhancers	Aorta	Aorta
20	chr7:3273000-3273400	Enhancers	Fetal Heart	heart
21	chr7:3273200-3274000	Enhancers	Right Atrium	heart
22	chr7:3273400-3275600	Weak transcription	Aorta	Aorta
23	chr7:3274400-3275000	Weak transcription	Fetal Lung	lung
24	chr7:3274800-3275200	Active TSS	NHDF-Ad	bronchial
25	chr7:3275000-3275400	ZNF genes & repeats	Gastric	stomach
26	chr7:3275600-3276000	ZNF genes & repeats	Aorta	Aorta
27	chr7:3276000-3278600	Weak transcription	Aorta	Aorta
28	chr7:3276800-3282800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:3277600-3279600	Enhancers	Pancreas	Pancrea
30	chr7:3278200-3279400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:3278400-3278800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:3278400-3279400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:3278400-3279600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:3278600-3279000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:3278600-3279000	Enhancers	NH-A	brain
36	chr7:3278600-3279200	Enhancers	Aorta	Aorta
37	chr7:3278800-3279000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:3279000-3279200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:3279000-3283600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:3279000-3283600	Weak transcription	NH-A	brain
41	chr7:3279200-3282800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:3279200-3284000	Weak transcription	Aorta	Aorta
43	chr7:3279400-3282800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:3279600-3280600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:3280400-3280600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr7:3280400-3280800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:3280600-3280800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr7:3280600-3302000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr7:3280800-3284200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:3281800-3282000	Enhancers	Fetal Kidney	kidney

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