Variant report

Variant	esv1793220
Chromosome Location	chr7:127400473-127413555
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127402152..127404237-chr7:127406548..127408447,2	MCF-7	breast:
2	chr7:127383405..127387051-chr7:127397788..127400702,3	K562	blood:
3	chr7:127401749..127405329-chr7:127409862..127412962,3	K562	blood:
4	chr7:127410218..127412934-chr7:127422329..127425135,2	MCF-7	breast:
5	chr7:127385856..127388522-chr7:127401601..127404191,2	K562	blood:
6	chr7:127392140..127396702-chr7:127397073..127402376,5	K562	blood:
7	chr7:127405359..127407780-chr7:127410087..127411975,3	K562	blood:
8	chr7:127390567..127392774-chr7:127400064..127401967,2	MCF-7	breast:
9	chr7:127385551..127387981-chr7:127397918..127400507,2	K562	blood:
10	chr7:127297314..127299232-chr7:127410523..127413406,2	K562	blood:
11	chr7:127388845..127391167-chr7:127400870..127402708,2	K562	blood:
12	chr7:127405359..127407780-chr7:127410087..127411975,3	K562	blood:
13	chr7:127401749..127405329-chr7:127409862..127412962,3	K562	blood:
14	chr7:127402917..127404639-chr7:127409550..127411362,2	K562	blood:
15	chr7:127402917..127404639-chr7:127409550..127411362,2	K562	blood:
16	chr7:127412000..127413898-chr7:127423427..127425410,2	MCF-7	breast:
17	chr7:127390841..127392796-chr7:127409472..127412228,2	K562	blood:
18	chr7:127402152..127404237-chr7:127406548..127408447,2	MCF-7	breast:

No data

Extended variants
information (count: 446 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:446 , 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	rs2043981	chr7:127400473-127400474	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs2043980	chr7:127400475-127400476	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs146490196	chr7:127400535-127400536	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs570644356	chr7:127400548-127400549	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs554411566	chr7:127400571-127400572	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs386717668	chr7:127400667-127400668	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs546164672	chr7:127400668-127400669	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs573454923	chr7:127400698-127400699	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs373376989	chr7:127400711-127400712	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs140978054	chr7:127400721-127400722	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs535142778	chr7:127400728-127400729	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs182544210	chr7:127400745-127400746	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs545775066	chr7:127400748-127400749	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs377539880	chr7:127400805-127400806	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs186849307	chr7:127400824-127400825	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs569394247	chr7:127400851-127400852	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs191435904	chr7:127400887-127400888	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs17151270	chr7:127400913-127400914	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs183602991	chr7:127400959-127400960	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs555765515	chr7:127400967-127400968	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs540667521	chr7:127400968-127400969	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs555767061	chr7:127400994-127400995	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs574205286	chr7:127401020-127401021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544644276	chr7:127401098-127401099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563344753	chr7:127401125-127401126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541923680	chr7:127401171-127401172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530771293	chr7:127401301-127401302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190738404	chr7:127401375-127401376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545675713	chr7:127401437-127401438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34340050	chr7:127401461-127401462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564432148	chr7:127401488-127401489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34516046	chr7:127401538-127401539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs398040087	chr7:127401544-127401545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs193069834	chr7:127401575-127401576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573930215	chr7:127401596-127401597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546203367	chr7:127401697-127401698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567690671	chr7:127401747-127401748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185549936	chr7:127401753-127401754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145721474	chr7:127401771-127401772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547394679	chr7:127401810-127401811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114410938	chr7:127401814-127401815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540053966	chr7:127401886-127401887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551668614	chr7:127401914-127401915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567189830	chr7:127402000-127402001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534469381	chr7:127402025-127402026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116498841	chr7:127402103-127402104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190070280	chr7:127402152-127402153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75116999	chr7:127402163-127402164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375394928	chr7:127402272-127402273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537840490	chr7:127402284-127402285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Glioblastoma multiforme	21510904	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD
Myxofibrosarcoma	20639860	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:386 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127373200-127410000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:127375400-127417400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:127375600-127401000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr7:127376800-127409200	Weak transcription	HUVEC	blood vessel
5	chr7:127377000-127409200	Weak transcription	NHLF	lung
6	chr7:127378200-127412200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr7:127378800-127401200	Weak transcription	Placenta	Placenta
8	chr7:127379200-127437400	Weak transcription	Fetal Stomach	stomach
9	chr7:127380000-127409200	Weak transcription	Aorta	Aorta
10	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
11	chr7:127388400-127406200	Weak transcription	Primary B cells from cord blood	blood
12	chr7:127388600-127407000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:127388600-127407000	Weak transcription	Dnd41	blood
14	chr7:127389000-127406000	Weak transcription	NHEK	skin
15	chr7:127390200-127407200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:127390400-127403000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:127391400-127404200	Weak transcription	Fetal Brain Male	brain
18	chr7:127391600-127407000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:127391600-127407000	Weak transcription	Primary T cells from cord blood	blood
20	chr7:127391800-127408400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:127392000-127406400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:127392000-127408000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:127392000-127408000	Weak transcription	NH-A	brain
24	chr7:127392000-127409000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:127392000-127409600	Weak transcription	HMEC	breast
26	chr7:127392200-127407000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:127392200-127407800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr7:127392200-127408200	Weak transcription	NHDF-Ad	bronchial
29	chr7:127392200-127409000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:127392200-127409200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:127392200-127410400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:127392200-127411000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:127392400-127407000	Weak transcription	HSMM	muscle
34	chr7:127392600-127410000	Weak transcription	Left Ventricle	heart
35	chr7:127393000-127404200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:127393200-127404400	Weak transcription	GM12878-XiMat	blood
37	chr7:127393200-127422800	Weak transcription	Fetal Thymus	thymus
38	chr7:127393400-127406000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:127393800-127404800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:127395400-127405800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr7:127395400-127406800	Weak transcription	Colon Smooth Muscle	Colon
42	chr7:127395400-127422200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr7:127395600-127403800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:127395600-127406000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr7:127395800-127403800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr7:127395800-127406800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr7:127395800-127406800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:127395800-127409400	Weak transcription	Right Atrium	heart
49	chr7:127395800-127437200	Weak transcription	Fetal Muscle Leg	muscle
50	chr7:127396000-127404400	Weak transcription	Brain Inferior Temporal Lobe	brain

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