Variant report

Variant	nsv818542
Chromosome Location	chr7:101202840-101208943
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:11)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101206824..101211807-chr7:101212192..101215584,4	K562	blood:
2	chr7:101207656..101210321-chr7:101214557..101217870,3	MCF-7	breast:
3	chr7:101207965..101209956-chr7:101246300..101248561,2	MCF-7	breast:
4	chr7:101197711..101201500-chr7:101202311..101205886,4	K562	blood:
5	chr7:101198261..101200109-chr7:101205312..101207147,2	MCF-7	breast:
6	chr7:101208216..101210386-chr7:101212192..101214144,2	K562	blood:
7	chr7:101199428..101201202-chr7:101204927..101207816,2	MCF-7	breast:
8	chr7:101186501..101188432-chr7:101201357..101203571,2	MCF-7	breast:
9	chr7:101197711..101200562-chr7:101201451..101203928,2	K562	blood:
10	chr7:101189298..101191997-chr7:101207833..101210314,2	MCF-7	breast:
11	chr7:101206668..101209000-chr7:101457248..101459905,2	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYL10-1	chr7:101206059-101206367	XLOC_006548
2	lnc-MYL10-1	chr7:101208597-101210760	ENSG00000233123
3	lnc-MYL10-1	chr7:101208599-101210760	XLOC_006548
4	lnc-MYL10-1	chr7:101208586-101209913	ENSG00000233123
5	lnc-MYL10-1	chr7:101208607-101210760	NONHSAT122471
6	lnc-MYL10-1	chr7:101208587-101209913	NR_103748
7	lnc-MYL10-1	chr7:101206035-101206367	NONHSAT122469
8	lnc-MYL10-1	chr7:101208589-101209913	XLOC_006548
9	lnc-MYL10-1	chr7:101208587-101210760	NR_103747

No data

Variant related genes	Relation type
ENSG00000233123	chromatin interactions
ENSG00000257923	chromatin interactions
HSPC159	miRNA target sites
TK2	miRNA target sites

Extended variants
information (count: 249 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12539059	chr7:101202840-101202841	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149936348	chr7:101202860-101202861	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13238341	chr7:101202861-101202862	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs147621654	chr7:101202892-101202893	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13238436	chr7:101202958-101202959	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs142413206	chr7:101202959-101202960	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369429470	chr7:101203027-101203028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201882206	chr7:101203031-101203032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146645431	chr7:101203053-101203054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs724574	chr7:101203066-101203067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs558093904	chr7:101203099-101203100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567438754	chr7:101203159-101203160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573469302	chr7:101203192-101203193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377647453	chr7:101203282-101203283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555340636	chr7:101203388-101203389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573257431	chr7:101203459-101203460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147876662	chr7:101203471-101203472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148930268	chr7:101203510-101203511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572451520	chr7:101203528-101203529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143797576	chr7:101203558-101203559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545166535	chr7:101203591-101203592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560128972	chr7:101203622-101203623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148171355	chr7:101203642-101203643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115008556	chr7:101203652-101203653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561175060	chr7:101203728-101203729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533756615	chr7:101203807-101203808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552320920	chr7:101203837-101203838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375125479	chr7:101203840-101203841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79461079	chr7:101203845-101203846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75041961	chr7:101203848-101203849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368200779	chr7:101203852-101203853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200530344	chr7:101203860-101203861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569348630	chr7:101203861-101203862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10808117	chr7:101203862-101203863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376116426	chr7:101203863-101203864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539971496	chr7:101203893-101203894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs193158892	chr7:101203894-101203895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117795935	chr7:101203918-101203919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534409455	chr7:101203929-101203930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555745703	chr7:101203964-101203965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185059553	chr7:101203975-101203976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537420365	chr7:101203976-101203977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555768756	chr7:101203999-101204000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553884665	chr7:101204012-101204013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369025591	chr7:101204033-101204034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187958062	chr7:101204039-101204040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34614559	chr7:101204050-101204051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs573856974	chr7:101204053-101204054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112939589	chr7:101204114-101204115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542821757	chr7:101204150-101204151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101186200-101207600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:101186600-101206800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:101189200-101207600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:101191400-101207000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:101191400-101207600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:101191600-101207200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:101191800-101206200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:101191800-101207000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:101193600-101207600	Weak transcription	Fetal Kidney	kidney
10	chr7:101194200-101203200	Weak transcription	Fetal Brain Female	brain
11	chr7:101194400-101208200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:101195000-101207000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:101197000-101206200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:101198600-101203000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:101199600-101207000	Weak transcription	Lung	lung
16	chr7:101200000-101207000	Weak transcription	Spleen	Spleen
17	chr7:101201800-101203000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:101202000-101203000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:101202000-101206400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:101202600-101205000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:101203000-101206400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:101203000-101207200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:101204200-101204400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:101205000-101206000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr7:101205200-101205400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr7:101205200-101205400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:101205200-101205400	Enhancers	Colonic Mucosa	Colon
28	chr7:101205200-101205600	Bivalent Enhancer	Stomach Mucosa	stomach
29	chr7:101205400-101207600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr7:101205600-101206600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:101206000-101206200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:101206000-101208000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr7:101206000-101208400	Bivalent Enhancer	Adipose Nuclei	Adipose
34	chr7:101206200-101206400	Enhancers	A549	lung
35	chr7:101206200-101207600	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr7:101206200-101207800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:101206400-101207000	Weak transcription	A549	lung
38	chr7:101206400-101207800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:101206400-101208600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr7:101206400-101209000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:101206600-101207200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:101206600-101207200	Enhancers	Right Ventricle	heart
43	chr7:101206600-101208600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:101206800-101207400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:101206800-101207600	Enhancers	Placenta	Placenta
46	chr7:101206800-101207600	Enhancers	Fetal Thymus	thymus
47	chr7:101206800-101208000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr7:101206800-101208000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr7:101206800-101208400	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr7:101206800-101208600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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