Variant report

Variant	esv3325020
Chromosome Location	chr7:101206682-101209580
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:8)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:101199428..101201202-chr7:101204927..101207816,2	MCF-7	breast:
2	chr7:101206668..101209000-chr7:101457248..101459905,2	MCF-7	breast:
3	chr7:101206824..101211807-chr7:101212192..101215584,4	K562	blood:
4	chr7:101207656..101210321-chr7:101214557..101217870,3	MCF-7	breast:
5	chr7:101189298..101191997-chr7:101207833..101210314,2	MCF-7	breast:
6	chr7:101208216..101210386-chr7:101212192..101214144,2	K562	blood:
7	chr7:101207965..101209956-chr7:101246300..101248561,2	MCF-7	breast:
8	chr7:101198261..101200109-chr7:101205312..101207147,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 116 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61328199	chr7:101206712-101206713	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145210625	chr7:101206838-101206839	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs559971622	chr7:101206875-101206876	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs530448196	chr7:101206877-101206878	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs191063472	chr7:101206888-101206889	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs563313199	chr7:101206896-101206897	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs149214318	chr7:101206903-101206904	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs369551779	chr7:101206934-101206935	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs552208898	chr7:101206960-101206961	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs6954825	chr7:101207035-101207036	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs528261515	chr7:101207036-101207037	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs540687267	chr7:101207042-101207043	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs145185144	chr7:101207085-101207086	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs6972341	chr7:101207105-101207106	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs6954979	chr7:101207137-101207138	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs569666656	chr7:101207165-101207166	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs182359882	chr7:101207286-101207287	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs558976832	chr7:101207295-101207296	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs62465121	chr7:101207299-101207300	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs373134648	chr7:101207363-101207364	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs6955330	chr7:101207376-101207377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs531984679	chr7:101207413-101207414	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs553637859	chr7:101207419-101207420	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs575200573	chr7:101207462-101207463	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs542592238	chr7:101207469-101207470	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs563976129	chr7:101207480-101207481	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs530483200	chr7:101207489-101207490	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs545502189	chr7:101207506-101207507	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs138918163	chr7:101207509-101207510	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs6955500	chr7:101207510-101207511	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs62465122	chr7:101207525-101207526	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs13226973	chr7:101207530-101207531	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs527426551	chr7:101207588-101207589	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs567958055	chr7:101207603-101207604	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs553312000	chr7:101207623-101207624	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs140668405	chr7:101207627-101207628	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs550417661	chr7:101207676-101207677	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs369882344	chr7:101207688-101207689	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs568829402	chr7:101207736-101207737	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs188349238	chr7:101207747-101207748	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs537425972	chr7:101207780-101207781	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs200872147	chr7:101207916-101207917	Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs552320428	chr7:101207934-101207935	Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs578097922	chr7:101207945-101207946	Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs570911592	chr7:101207970-101207971	Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs114138022	chr7:101208014-101208015	Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs547491762	chr7:101208022-101208023	Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs553601946	chr7:101208038-101208039	Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs575040739	chr7:101208039-101208040	Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs545385708	chr7:101208048-101208049	Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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

Chromatin state (count:87 , 50 per page) page: 1 2

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	chr7:101191800-101207000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:101193600-101207600	Weak transcription	Fetal Kidney	kidney
9	chr7:101194400-101208200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:101195000-101207000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:101199600-101207000	Weak transcription	Lung	lung
12	chr7:101200000-101207000	Weak transcription	Spleen	Spleen
13	chr7:101203000-101207200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:101205400-101207600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:101206000-101208000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr7:101206000-101208400	Bivalent Enhancer	Adipose Nuclei	Adipose
17	chr7:101206200-101207600	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr7:101206200-101207800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:101206400-101207000	Weak transcription	A549	lung
20	chr7:101206400-101207800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:101206400-101208600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr7:101206400-101209000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:101206600-101207200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:101206600-101207200	Enhancers	Right Ventricle	heart
25	chr7:101206600-101208600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:101206800-101207400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:101206800-101207600	Enhancers	Placenta	Placenta
28	chr7:101206800-101207600	Enhancers	Fetal Thymus	thymus
29	chr7:101206800-101208000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr7:101206800-101208000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:101206800-101208400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr7:101206800-101208600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr7:101207000-101207200	Enhancers	Esophagus	oesophagus
34	chr7:101207000-101207200	Bivalent Enhancer	Fetal Stomach	stomach
35	chr7:101207000-101207400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
36	chr7:101207000-101207600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:101207000-101208000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr7:101207000-101208000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
39	chr7:101207000-101208200	Enhancers	Spleen	Spleen
40	chr7:101207000-101208400	Enhancers	Lung	lung
41	chr7:101207000-101208400	Enhancers	A549	lung
42	chr7:101207000-101208600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr7:101207200-101207600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:101207200-101207800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr7:101207200-101208000	Weak transcription	Esophagus	oesophagus
46	chr7:101207200-101208000	Enhancers	Hela-S3	cervix
47	chr7:101207200-101208400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:101207200-101208400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr7:101207400-101207600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr7:101207400-101207800	Enhancers	Fetal Heart	heart

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