Variant report

Variant	nsv887315
Chromosome Location	chr7:2895627-2935424
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:106)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:106 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr7:2926382..2927118-chr7:3105405..3105996,2	MCF-7	breast:
2	chr7:2725769..2728624-chr7:2901720..2905056,3	MCF-7	breast:
3	chr7:2761837..2763894-chr7:2912353..2913943,2	MCF-7	breast:
4	chr7:2838034..2839572-chr7:2912043..2913829,2	MCF-7	breast:
5	chr7:2726315..2729215-chr7:2912425..2915656,5	MCF-7	breast:
6	chr7:2897460..2900417-chr7:2901326..2905406,6	K562	blood:
7	chr3:150263912..150264739-chr7:2903202..2903806,2	Hela-S3	cervix:
8	chr7:2902294..2906267-chr7:2911344..2915860,6	MCF-7	breast:
9	chr10:75757616..75758457-chr7:2903438..2904036,2	Hela-S3	cervix:
10	chr7:2913057..2915172-chr7:3198284..3201204,2	MCF-7	breast:
11	chr7:2922257..2924119-chr7:2925504..2928131,3	MCF-7	breast:
12	chr7:2903257..2906477-chr7:2913665..2917327,3	K562	blood:
13	chr7:2903001..2903779-chr7:5569877..5570686,2	Hela-S3	cervix:
14	chr7:2741629..2743358-chr7:2912496..2914112,2	MCF-7	breast:
15	chr7:2794522..2796441-chr7:2912827..2915695,3	MCF-7	breast:
16	chr7:2903100..2903788-chr8:102217873..102218607,2	HCT-116	colon:
17	chr7:2765987..2767682-chr7:2913183..2915422,2	MCF-7	breast:
18	chr7:2926548..2927187-chr7:3103632..3104310,2	MCF-7	breast:
19	chr7:2926249..2926927-chr7:3240062..3240775,2	MCF-7	breast:
20	chr7:2913332..2915358-chr7:2931713..2934636,3	MCF-7	breast:
21	chr7:2896657..2898965-chr7:2903247..2905265,2	MCF-7	breast:
22	chr7:2904357..2905298-chr7:3194209..3195076,4	K562	blood:
23	chr7:2872743..2875246-chr7:2912589..2914983,2	MCF-7	breast:
24	chr7:2904486..2905293-chr7:3103659..3104561,2	MCF-7	breast:
25	chr7:2925307..2926930-chr7:3193219..3196331,3	MCF-7	breast:
26	chr7:2912477..2915576-chr7:3192783..3198437,6	MCF-7	breast:
27	chr7:2898176..2901169-chr7:2925021..2926702,2	MCF-7	breast:
28	chr7:2912665..2915404-chr7:2954032..2956544,2	MCF-7	breast:
29	chr7:2926262..2927534-chr7:3194238..3195613,6	MCF-7	breast:
30	chr7:2934561..2937254-chr7:2944199..2945899,2	MCF-7	breast:
31	chr7:2758388..2761774-chr7:2912256..2915270,3	K562	blood:
32	chr3:50126070..50126870-chr7:2903337..2903909,2	Hela-S3	cervix:
33	chr7:2902294..2906267-chr7:2911344..2915860,6	MCF-7	breast:
34	chr7:2902048..2907034-chr7:2912028..2916176,7	K562	blood:
35	chr20:52149602..52150142-chr7:2904063..2904862,2	MCF-7	breast:
36	chr7:2912565..2914175-chr7:2952368..2955309,3	MCF-7	breast:
37	chr7:2912621..2916379-chr7:3234649..3238028,4	MCF-7	breast:
38	chr7:2902048..2907034-chr7:2912028..2916176,7	K562	blood:
39	chr7:2893756..2895887-chr7:2901589..2904569,2	K562	blood:
40	chr7:2899154..2902095-chr7:2911868..2915224,3	MCF-7	breast:
41	chr7:2812694..2814409-chr7:2912696..2915342,2	K562	blood:
42	chr7:2901153..2906506-chr7:2906847..2911402,6	K562	blood:
43	chr7:2901153..2906506-chr7:2906847..2911402,6	K562	blood:
44	chr7:2911909..2914760-chr7:3102455..3104497,2	MCF-7	breast:
45	chr7:2915975..2917721-chr7:3231286..3232804,2	MCF-7	breast:
46	chr7:2891216..2892935-chr7:2895055..2897737,2	K562	blood:
47	chr7:2912356..2915024-chr7:3064651..3067046,2	MCF-7	breast:
48	chr2:85134041..85134649-chr7:2913572..2914169,2	Hela-S3	cervix:
49	chr7:2773431..2776553-chr7:2903290..2905361,3	K562	blood:
50	chr2:63881623..63882123-chr7:2913394..2913983,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AMZ1-5	chr7:2931858-2932259	NONHSAT118829
2	lnc-AMZ1-4	chr7:2920040-2920279	NONHSAT118828

No data

Variant related genes	Relation type
ENSG00000185624	chromatin interactions
ENSG00000035403	chromatin interactions
ENSG00000231892	chromatin interactions
ENSG00000174945	chromatin interactions
ENSG00000236708	chromatin interactions
ENSG00000173545	chromatin interactions
ENSG00000115310	chromatin interactions
ENSG00000144895	chromatin interactions
ENSG00000120742	chromatin interactions
ENSG00000120963	chromatin interactions
ENSG00000003756	chromatin interactions
ENSG00000217455	chromatin interactions
ENSG00000075624	chromatin interactions
ENSG00000089009	chromatin interactions
ENSG00000186854	chromatin interactions
ENSG00000146535	chromatin interactions
ENSG00000146555	chromatin interactions

Extended variants
information (count: 2005 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:2005 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1713913	chr7:2895627-2895628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536702141	chr7:2895634-2895635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147137577	chr7:2895639-2895640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576596303	chr7:2895672-2895673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545576401	chr7:2895679-2895680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559415172	chr7:2895683-2895684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573089384	chr7:2895702-2895703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541107465	chr7:2895705-2895706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528869325	chr7:2895709-2895710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138692419	chr7:2895765-2895766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1713912	chr7:2895784-2895785	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs568640214	chr7:2895794-2895795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112280577	chr7:2895797-2895798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563886428	chr7:2895823-2895824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76939690	chr7:2895824-2895825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532783433	chr7:2895826-2895827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562592650	chr7:2895846-2895847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566287999	chr7:2895891-2895892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535287761	chr7:2895925-2895926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142698123	chr7:2895951-2895952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567690883	chr7:2896044-2896045	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536765833	chr7:2896053-2896054	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556670302	chr7:2896080-2896081	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576506273	chr7:2896110-2896111	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11770710	chr7:2896123-2896124	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs553120630	chr7:2896181-2896182	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192755605	chr7:2896225-2896226	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs116770461	chr7:2896238-2896239	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542060157	chr7:2896244-2896245	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111770365	chr7:2896267-2896268	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141721885	chr7:2896268-2896269	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11766514	chr7:2896271-2896272	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs563820554	chr7:2896304-2896305	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532642971	chr7:2896307-2896308	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560033891	chr7:2896322-2896323	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552506774	chr7:2896329-2896330	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559854891	chr7:2896333-2896334	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528806814	chr7:2896361-2896362	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548832141	chr7:2896382-2896383	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568401404	chr7:2896407-2896408	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs530449850	chr7:2896421-2896422	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs375177758	chr7:2896455-2896456	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs550155757	chr7:2896492-2896493	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs570251233	chr7:2896493-2896494	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs539475988	chr7:2896494-2896495	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs1639064	chr7:2896544-2896545	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs188846222	chr7:2896545-2896546	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs116946872	chr7:2896627-2896628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371134434	chr7:2896636-2896637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182758679	chr7:2896638-2896639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Breast cancer	21509527	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1108 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2884600-2896000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:2884600-2902800	Weak transcription	Right Ventricle	heart
3	chr7:2884800-2895800	Weak transcription	Fetal Heart	heart
4	chr7:2885000-2902000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:2890400-2895800	Weak transcription	Pancreas	Pancrea
6	chr7:2890400-2896400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:2891600-2902000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:2891600-2902000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:2891600-2902600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr7:2891600-2902800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr7:2892800-2902000	Weak transcription	NHLF	lung
12	chr7:2893200-2895800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr7:2893200-2902000	Weak transcription	Ovary	ovary
14	chr7:2893400-2900200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:2893400-2902600	Weak transcription	GM12878-XiMat	blood
16	chr7:2895800-2896000	Enhancers	Fetal Heart	heart
17	chr7:2895800-2896600	Enhancers	Left Ventricle	heart
18	chr7:2895800-2896600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr7:2895800-2897200	Enhancers	HepG2	liver
20	chr7:2895800-2897600	Enhancers	Pancreas	Pancrea
21	chr7:2895800-2902800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr7:2896000-2896600	Flanking Active TSS	Fetal Heart	heart
23	chr7:2896200-2896600	Enhancers	Right Atrium	heart
24	chr7:2896200-2896800	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr7:2896400-2896800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:2896400-2897400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:2896400-2897600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:2896600-2896800	Enhancers	Fetal Heart	heart
29	chr7:2896600-2900200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr7:2896800-2897000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:2896800-2898400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr7:2897000-2897600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:2897000-2897600	Enhancers	Fetal Intestine Large	intestine
34	chr7:2897000-2897600	Enhancers	Placenta	Placenta
35	chr7:2897200-2897400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr7:2897200-2897600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:2897200-2897600	Enhancers	Fetal Intestine Small	intestine
38	chr7:2897200-2897600	Flanking Active TSS	HepG2	liver
39	chr7:2897400-2902800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:2897600-2899000	Enhancers	HepG2	liver
41	chr7:2897600-2899400	Weak transcription	Pancreas	Pancrea
42	chr7:2897600-2900200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:2897600-2900200	Weak transcription	Fetal Intestine Small	intestine
44	chr7:2897600-2902000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:2897600-2902200	Weak transcription	Placenta	Placenta
46	chr7:2898200-2898800	Enhancers	Fetal Muscle Trunk	muscle
47	chr7:2898400-2899000	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr7:2898400-2900400	Enhancers	Fetal Muscle Leg	muscle
49	chr7:2898600-2898800	Enhancers	HSMMtube	muscle
50	chr7:2898800-2900000	Weak transcription	Fetal Muscle Trunk	muscle

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