Variant report

Variant	nsv605902
Chromosome Location	chr7:3464896-3598581
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:37)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:3551543..3553743-chr7:3556409..3559283,2	MCF-7	breast:
2	chr7:3521823..3522640-chr7:3807742..3808264,2	MCF-7	breast:
3	chr7:3581196..3583334-chr7:3583848..3586419,2	K562	blood:
4	chr7:3555349..3557729-chr7:3560043..3561605,2	K562	blood:
5	chr7:3553060..3555067-chr7:3563741..3566106,2	MCF-7	breast:
6	chr7:3551543..3553743-chr7:3556409..3559283,2	MCF-7	breast:
7	chr7:3521696..3522495-chr7:3631928..3632648,2	MCF-7	breast:
8	chr7:3521340..3522302-chr7:4671144..4671918,2	MCF-7	breast:
9	chr7:3537080..3539372-chr7:3543955..3546696,2	MCF-7	breast:
10	chr7:3467584..3469607-chr7:3473579..3476455,2	MCF-7	breast:
11	chr6:34331825..34332645-chr7:3565574..3566479,2	MCF-7	breast:
12	chr7:3467584..3469607-chr7:3473579..3476455,2	MCF-7	breast:
13	chr7:3439202..3440208-chr7:3521793..3522518,3	MCF-7	breast:
14	chr7:3596799..3598779-chr7:3598841..3601044,2	K562	blood:
15	chr7:3466489..3468571-chr7:3470496..3474286,3	MCF-7	breast:
16	chr7:3598045..3599826-chr7:3607481..3609986,2	K562	blood:
17	chr7:3340840..3343338-chr7:3476351..3477939,2	MCF-7	breast:
18	chr7:3551947..3554691-chr7:3562735..3565041,2	MCF-7	breast:
19	chr7:3577804..3580555-chr7:3590884..3593146,2	MCF-7	breast:
20	chr7:3546340..3548906-chr7:3559233..3561540,2	MCF-7	breast:
21	chr7:3466489..3468571-chr7:3470496..3474286,3	MCF-7	breast:
22	chr7:3553060..3555067-chr7:3563741..3566106,2	MCF-7	breast:
23	chr7:3522949..3523470-chr7:3687761..3688597,2	MCF-7	breast:
24	chr7:3444122..3444632-chr7:3471439..3472016,2	MCF-7	breast:
25	chr7:3463184..3466150-chr7:3469039..3471328,2	MCF-7	breast:
26	chr7:3528452..3531258-chr7:3533365..3536191,2	MCF-7	breast:
27	chr7:3525893..3527972-chr7:3528761..3530519,2	K562	blood:
28	chr7:3555349..3557729-chr7:3560043..3561605,2	K562	blood:
29	chr7:3521755..3523053-chr7:3688631..3689551,7	MCF-7	breast:
30	chr7:3525893..3527972-chr7:3528761..3530519,2	K562	blood:
31	chr7:3463184..3466150-chr7:3469039..3471328,2	MCF-7	breast:
32	chr7:3537080..3539372-chr7:3543955..3546696,2	MCF-7	breast:
33	chr7:3551947..3554691-chr7:3562735..3565041,2	MCF-7	breast:
34	chr7:3577804..3580555-chr7:3590884..3593146,2	MCF-7	breast:
35	chr7:3581196..3583334-chr7:3583848..3586419,2	K562	blood:
36	chr7:3546340..3548906-chr7:3559233..3561540,2	MCF-7	breast:
37	chr7:3528452..3531258-chr7:3533365..3536191,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236708	chromatin interactions
ENSG00000146555	chromatin interactions

Extended variants
information (count: 7912 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:7912 , 50 per page) page: 1 2 3 4 5 6 7 ... 159

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1403158	chr7:3464896-3464897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs370313303	chr7:3464905-3464906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551494833	chr7:3464920-3464921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183702118	chr7:3464953-3464954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186760383	chr7:3465018-3465019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548551091	chr7:3465051-3465052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192441233	chr7:3465085-3465086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537747522	chr7:3465098-3465099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185726809	chr7:3465136-3465137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571018398	chr7:3465145-3465146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138382114	chr7:3465162-3465163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553075148	chr7:3465178-3465179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149237035	chr7:3465201-3465202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541495348	chr7:3465209-3465210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531168671	chr7:3465218-3465219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555320066	chr7:3465219-3465220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575493739	chr7:3465232-3465233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544482788	chr7:3465243-3465244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144434786	chr7:3465246-3465247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7457146	chr7:3465254-3465255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs190228575	chr7:3465276-3465277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181732958	chr7:3465324-3465325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528546521	chr7:3465405-3465406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6651070	chr7:3465411-3465412	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs568433256	chr7:3465461-3465462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140086222	chr7:3465468-3465469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7777852	chr7:3465471-3465472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs7777870	chr7:3465517-3465518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549999564	chr7:3465530-3465531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62437723	chr7:3465531-3465532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542546486	chr7:3465532-3465533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370776465	chr7:3465554-3465555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368360504	chr7:3465588-3465589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138153660	chr7:3465617-3465618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188743535	chr7:3465627-3465628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181361391	chr7:3465628-3465629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566599377	chr7:3465631-3465632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535529616	chr7:3465633-3465634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142663722	chr7:3465654-3465655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575134660	chr7:3465656-3465657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116268541	chr7:3465674-3465675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111442107	chr7:3465693-3465694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146012693	chr7:3465733-3465734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78527418	chr7:3465737-3465738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73302308	chr7:3465745-3465746	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs531636276	chr7:3465786-3465787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368702142	chr7:3465792-3465793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190006806	chr7:3465816-3465817	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573298376	chr7:3465837-3465838	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542269358	chr7:3465838-3465839	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	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
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
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:783 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3456800-3465800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:3458400-3465800	Weak transcription	Pancreas	Pancrea
3	chr7:3465000-3470200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:3465800-3466000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:3465800-3466000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:3465800-3466000	Enhancers	H9 Cell Line	embryonic stem cell
7	chr7:3465800-3466000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:3465800-3466000	ZNF genes & repeats	Pancreas	Pancrea
9	chr7:3465800-3466200	Enhancers	Spleen	Spleen
10	chr7:3466000-3468000	Weak transcription	Pancreas	Pancrea
11	chr7:3466000-3469200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:3466000-3469600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:3466000-3469600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:3466400-3466600	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr7:3466600-3468200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr7:3467200-3467800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr7:3467400-3467800	Active TSS	Brain Anterior Caudate	brain
18	chr7:3467400-3467800	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr7:3467800-3472800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:3468200-3468800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr7:3468800-3482400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr7:3469200-3469600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:3469200-3471000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:3469400-3469600	Enhancers	Aorta	Aorta
25	chr7:3469400-3471600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:3469600-3469800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:3469600-3470000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:3469600-3470400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:3469600-3470400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:3469600-3470400	Enhancers	H9 Cell Line	embryonic stem cell
31	chr7:3469600-3470400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:3469600-3470800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr7:3469600-3470800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr7:3469600-3470800	Enhancers	Placenta	Placenta
35	chr7:3469600-3471400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr7:3469600-3471400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr7:3469600-3471400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:3469600-3471600	Enhancers	NHEK	skin
39	chr7:3469600-3479000	Weak transcription	Aorta	Aorta
40	chr7:3469800-3470800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr7:3469800-3470800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr7:3469800-3470800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr7:3469800-3471200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:3469800-3471400	Enhancers	HMEC	breast
45	chr7:3470000-3470400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr7:3470000-3470600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:3470000-3470600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr7:3470000-3470600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:3470000-3470600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr7:3470000-3471400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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