Variant report

Variant	nsv966929
Chromosome Location	chr7:56085012-56094574
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:56092875..56095055-chr7:56099185..56100786,2	MCF-7	breast:
2	chr7:56094252..56096504-chr7:56118049..56120713,2	MCF-7	breast:
3	chr7:56093650..56095156-chr7:56099679..56101422,2	K562	blood:

Variant related genes	Relation type
ENSG00000146731	chromatin interactions
ENSG00000146733	chromatin interactions

Extended variants
information (count: 438 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:438 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377489734	chr7:56085046-56085047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs578109497	chr7:56085076-56085077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372395140	chr7:56085117-56085118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71015159	chr7:56085133-56085134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539158070	chr7:56085145-56085146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557359264	chr7:56085148-56085149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111866297	chr7:56085151-56085152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575744624	chr7:56085159-56085160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144025271	chr7:56085179-56085180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561882446	chr7:56085185-56085186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187028986	chr7:56085215-56085216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192167767	chr7:56085235-56085236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559518342	chr7:56085252-56085253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532826476	chr7:56085298-56085299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551092758	chr7:56085305-56085306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562921155	chr7:56085312-56085313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558334500	chr7:56085345-56085346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35860273	chr7:56085409-56085410	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71015160	chr7:56085428-56085429	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182937268	chr7:56085443-56085444	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189120143	chr7:56085478-56085479	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567822556	chr7:56085518-56085519	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs193136423	chr7:56085519-56085520	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117690775	chr7:56085536-56085537	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
25	rs571885689	chr7:56085540-56085541	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185669312	chr7:56085544-56085545	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77057829	chr7:56085556-56085557	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531350814	chr7:56085558-56085559	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536292503	chr7:56085572-56085573	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554960464	chr7:56085573-56085574	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573821976	chr7:56085597-56085598	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs202033817	chr7:56085635-56085636	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541330993	chr7:56085639-56085640	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574695456	chr7:56085670-56085671	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201881668	chr7:56085671-56085672	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561110170	chr7:56085673-56085674	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146489473	chr7:56085785-56085786	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538255953	chr7:56085787-56085788	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189330451	chr7:56085804-56085805	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191121449	chr7:56085835-56085836	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563091224	chr7:56085857-56085858	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs60937779	chr7:56085870-56085871	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112828773	chr7:56085896-56085897	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183995669	chr7:56085942-56085943	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548662054	chr7:56085985-56085986	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573277232	chr7:56085993-56085994	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560955182	chr7:56086028-56086029	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs57817279	chr7:56086052-56086053	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs73140771	chr7:56086054-56086055	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs549322317	chr7:56086055-56086056	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Esophageal squamous carcinoma	21637470	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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
small cell lung cancer	20016488	CNVD
Lung adenocarcinoma	21935476	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Gastric cancer	17229543	CNVD

Chromatin state (count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56049200-56101600	Weak transcription	Small Intestine	intestine
2	chr7:56050000-56086600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:56051400-56086800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:56060600-56099600	Weak transcription	HUVEC	blood vessel
5	chr7:56063400-56089600	Weak transcription	NHDF-Ad	bronchial
6	chr7:56063400-56096800	Weak transcription	NH-A	brain
7	chr7:56063600-56101000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:56063600-56101200	Weak transcription	NHLF	lung
9	chr7:56064400-56087200	Weak transcription	Aorta	Aorta
10	chr7:56064400-56087200	Weak transcription	Esophagus	oesophagus
11	chr7:56064400-56101400	Weak transcription	Gastric	stomach
12	chr7:56065000-56101400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:56065000-56101400	Weak transcription	Colonic Mucosa	Colon
14	chr7:56065400-56101400	Weak transcription	Fetal Brain Male	brain
15	chr7:56065800-56088400	Weak transcription	Fetal Kidney	kidney
16	chr7:56065800-56095800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr7:56066200-56086600	Weak transcription	Ovary	ovary
18	chr7:56066600-56087400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:56066800-56086000	Weak transcription	Brain Germinal Matrix	brain
20	chr7:56067000-56088600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:56067200-56087000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:56067200-56101400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr7:56067400-56087200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:56067400-56087600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr7:56067400-56100800	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr7:56067800-56099600	Weak transcription	K562	blood
27	chr7:56068200-56086200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:56068200-56087400	Weak transcription	Adipose Nuclei	Adipose
29	chr7:56068200-56101200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr7:56068400-56087200	Weak transcription	Fetal Brain Female	brain
31	chr7:56072800-56087400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:56073000-56085800	Weak transcription	Right Ventricle	heart
33	chr7:56074400-56086400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:56075400-56101400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:56075800-56086600	Weak transcription	Hela-S3	cervix
36	chr7:56077200-56087200	Strong transcription	Fetal Intestine Small	intestine
37	chr7:56077600-56085600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr7:56077600-56087200	Weak transcription	Pancreas	Pancrea
39	chr7:56077600-56089200	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr7:56077800-56088000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:56077800-56099600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:56077800-56100600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:56078000-56087200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr7:56078000-56087200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr7:56078000-56088200	Weak transcription	Brain Angular Gyrus	brain
46	chr7:56078200-56085400	Strong transcription	Fetal Intestine Large	intestine
47	chr7:56078200-56089200	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr7:56078200-56089200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:56078200-56091000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:56078200-56091200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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