Variant report

Variant	nsv887317
Chromosome Location	chr7:2911972-2944187
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:69)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:69 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:2911909..2914760-chr7:3102455..3104497,2	MCF-7	breast:
2	chr7:2902294..2906267-chr7:2911344..2915860,6	MCF-7	breast:
3	chr7:2763542..2765998-chr7:2913273..2914846,2	MCF-7	breast:
4	chr7:2926599..2927259-chr7:3129024..3129578,2	MCF-7	breast:
5	chr7:2838034..2839572-chr7:2912043..2913829,2	MCF-7	breast:
6	chr7:2812694..2814409-chr7:2912696..2915342,2	K562	blood:
7	chr7:2913535..2915898-chr7:3339712..3342447,2	MCF-7	breast:
8	chr5:16465524..16466470-chr7:2913633..2914157,2	Hela-S3	cervix:
9	chr7:2926533..2927268-chr7:3239915..3240463,3	MCF-7	breast:
10	chr7:2913187..2915316-chr7:2934287..2938323,4	MCF-7	breast:
11	chr7:2894850..2898157-chr7:2912459..2915037,3	MCF-7	breast:
12	chr7:2913908..2916162-chr7:3122594..3124369,2	MCF-7	breast:
13	chr7:2922257..2924119-chr7:2925504..2928131,3	MCF-7	breast:
14	chr7:2741629..2743358-chr7:2912496..2914112,2	MCF-7	breast:
15	chr2:63881623..63882123-chr7:2913394..2913983,2	MCF-7	breast:
16	chr7:2912265..2915088-chr7:2952209..2954245,2	K562	blood:
17	chr7:2902048..2907034-chr7:2912028..2916176,7	K562	blood:
18	chr7:2899154..2902095-chr7:2911868..2915224,3	MCF-7	breast:
19	chr7:2944163..2946503-chr7:2948470..2951462,3	MCF-7	breast:
20	chr7:2912621..2916379-chr7:3234649..3238028,4	MCF-7	breast:
21	chr7:2914055..2915867-chr7:3204506..3206043,2	MCF-7	breast:
22	chr7:2925014..2926556-chr7:2928652..2930523,2	K562	blood:
23	chr7:2941519..2943724-chr7:2945322..2946840,2	K562	blood:
24	chr7:2913332..2915358-chr7:2931713..2934636,3	MCF-7	breast:
25	chr7:2898176..2901169-chr7:2925021..2926702,2	MCF-7	breast:
26	chr7:2921568..2923869-chr7:3228214..3231115,2	MCF-7	breast:
27	chr7:2912477..2915576-chr7:3192783..3198437,6	MCF-7	breast:
28	chr7:2726315..2729215-chr7:2912425..2915656,5	MCF-7	breast:
29	chr7:2794522..2796441-chr7:2912827..2915695,3	MCF-7	breast:
30	chr7:2926382..2927118-chr7:3105405..3105996,2	MCF-7	breast:
31	chr7:2756357..2758230-chr7:2913588..2915207,2	K562	blood:
32	chr7:2913651..2914154-chr7:100464016..100464516,2	Hela-S3	cervix:
33	chr7:2922257..2924119-chr7:2925504..2928131,3	MCF-7	breast:
34	chr12:112846626..112847194-chr7:2913325..2913862,2	Hela-S3	cervix:
35	chr7:2926249..2926927-chr7:3240062..3240775,2	MCF-7	breast:
36	chr7:2913414..2914953-chr7:3113951..3116529,2	MCF-7	breast:
37	chr7:2895086..2897225-chr7:2913092..2915364,2	MCF-7	breast:
38	chr7:2912750..2915143-chr7:3228683..3231010,3	MCF-7	breast:
39	chr7:2926722..2927303-chr7:3040053..3040619,2	MCF-7	breast:
40	chr7:2843670..2845376-chr7:2912642..2914150,2	MCF-7	breast:
41	chr7:2925014..2926556-chr7:2928652..2930523,2	K562	blood:
42	chr7:2753727..2755444-chr7:2914666..2916537,2	MCF-7	breast:
43	chr7:2925307..2926930-chr7:3193219..3196331,3	MCF-7	breast:
44	chr7:2926330..2927157-chr7:3107129..3108063,2	K562	blood:
45	chr7:2907345..2909750-chr7:2913621..2916060,3	K562	blood:
46	chr7:2882613..2885726-chr7:2911759..2915688,5	MCF-7	breast:
47	chr7:2912665..2915404-chr7:2954032..2956544,2	MCF-7	breast:
48	chr7:2761837..2763894-chr7:2912353..2913943,2	MCF-7	breast:
49	chr7:2934170..2935708-chr7:2937093..2939004,2	K562	blood:
50	chr2:85134041..85134649-chr7:2913572..2914169,2	Hela-S3	cervix:

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

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

No data

Variant related genes	Relation type
ENSG00000217455	chromatin interactions
ENSG00000146535	chromatin interactions
ENSG00000231892	chromatin interactions
ENSG00000186854	chromatin interactions
ENSG00000236708	chromatin interactions
ENSG00000173545	chromatin interactions
ENSG00000174945	chromatin interactions
ENSG00000146555	chromatin interactions
ENSG00000089009	chromatin interactions
ENSG00000115310	chromatin interactions

Extended variants
information (count: 1664 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1664 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1182144	chr7:2911972-2911973	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs376802940	chr7:2911984-2911985	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs537249125	chr7:2911996-2911997	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs557105321	chr7:2911997-2911998	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs546784923	chr7:2912063-2912064	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs151223445	chr7:2912068-2912069	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs74824546	chr7:2912099-2912100	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs111861719	chr7:2912114-2912115	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs377760176	chr7:2912131-2912132	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs571589316	chr7:2912151-2912152	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs73033501	chr7:2912160-2912161	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs530583352	chr7:2912191-2912192	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs141293792	chr7:2912204-2912205	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs564241569	chr7:2912219-2912220	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs538707082	chr7:2912220-2912221	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs533146190	chr7:2912250-2912251	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs75765142	chr7:2912389-2912390	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs117045319	chr7:2912415-2912416	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs113376924	chr7:2912427-2912428	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs184123036	chr7:2912441-2912442	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs537447312	chr7:2912446-2912447	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs186545136	chr7:2912463-2912464	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs190674968	chr7:2912510-2912511	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs555440320	chr7:2912528-2912529	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs147896017	chr7:2912540-2912541	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs550644840	chr7:2912675-2912676	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs570736549	chr7:2912677-2912678	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs539639572	chr7:2912679-2912680	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs11974165	chr7:2912711-2912712	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs573440709	chr7:2912767-2912768	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs370794421	chr7:2912794-2912795	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs561282942	chr7:2912795-2912796	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs576656134	chr7:2912856-2912857	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs7786425	chr7:2912861-2912862	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs369914063	chr7:2912885-2912886	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs575429350	chr7:2912910-2912911	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs1182143	chr7:2912928-2912929	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs564148189	chr7:2912931-2912932	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs113031772	chr7:2912939-2912940	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs138177824	chr7:2912954-2912955	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs560189847	chr7:2912958-2912959	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs370865681	chr7:2912972-2912973	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs1183078	chr7:2913002-2913003	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs73287371	chr7:2913021-2913022	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs7810210	chr7:2913076-2913077	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs1182142	chr7:2913079-2913080	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs562145650	chr7:2913102-2913103	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs111352315	chr7:2913103-2913104	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs112130893	chr7:2913110-2913111	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs113202842	chr7:2913119-2913120	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Breast cancer	22522925	CNVD

Chromatin state (count:615 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2903600-2921600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:2903800-2912800	Weak transcription	Right Atrium	heart
3	chr7:2903800-2914600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:2903800-2915800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:2903800-2919000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:2904000-2913200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:2905200-2913000	Weak transcription	HSMM	muscle
8	chr7:2905200-2919000	Weak transcription	Fetal Brain Male	brain
9	chr7:2909400-2913400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:2910200-2913000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:2910200-2915600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:2910200-2915800	Weak transcription	Pancreas	Pancrea
13	chr7:2910400-2912800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:2910400-2912800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:2910400-2912800	Weak transcription	NHLF	lung
16	chr7:2910400-2913000	Weak transcription	NHDF-Ad	bronchial
17	chr7:2910400-2913800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:2910400-2914800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr7:2910600-2912000	Enhancers	Primary T cells fromperipheralblood	blood
20	chr7:2910600-2912800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:2910600-2912800	Weak transcription	NH-A	brain
22	chr7:2910600-2913000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:2910600-2913200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:2910600-2913200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:2910600-2913600	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr7:2910600-2913600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr7:2910600-2913800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:2910600-2915600	Weak transcription	Brain Germinal Matrix	brain
29	chr7:2910600-2918800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr7:2910800-2912800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:2910800-2912800	Weak transcription	NHEK	skin
32	chr7:2910800-2913000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:2910800-2913000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr7:2910800-2918800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:2910800-2919000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr7:2911000-2912800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:2911200-2912000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr7:2911200-2912400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:2911200-2912400	Enhancers	Fetal Brain Female	brain
40	chr7:2911200-2912600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:2911200-2912800	Weak transcription	Lung	lung
42	chr7:2911200-2912800	Weak transcription	HUVEC	blood vessel
43	chr7:2911200-2913000	Weak transcription	Placenta	Placenta
44	chr7:2911400-2912800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:2911400-2913000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:2911400-2913000	Weak transcription	A549	lung
47	chr7:2911400-2913200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr7:2911400-2913200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr7:2911400-2914200	Weak transcription	Primary T cells from cord blood	blood
50	chr7:2911600-2912600	Weak transcription	Fetal Thymus	thymus

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