Variant report

Variant	esv1797438
Chromosome Location	chr7:140666808-140682332
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:140622964..140625760-chr7:140677459..140679390,2	K562	blood:
2	chr7:140672514..140673484-chr7:140692059..140692995,8	MCF-7	breast:
3	chr7:140637228..140638913-chr7:140681368..140684006,2	MCF-7	breast:
4	chr7:140676052..140677997-chr7:140681862..140683779,2	MCF-7	breast:
5	chr7:140676052..140677997-chr7:140681862..140683779,2	MCF-7	breast:
6	chr7:140668526..140670352-chr7:140672310..140674813,2	MCF-7	breast:
7	chr7:140672582..140673152-chr7:140692063..140692683,3	MCF-7	breast:
8	chr7:140661687..140663739-chr7:140664738..140669110,3	MCF-7	breast:
9	chr7:140672428..140674348-chr7:140681005..140683175,2	K562	blood:
10	chr7:140664931..140667594-chr7:140670729..140673169,2	K562	blood:
11	chr7:140675007..140675968-chr7:140692355..140692975,3	MCF-7	breast:
12	chr7:140667563..140669142-chr7:140674491..140677083,2	MCF-7	breast:
13	chr7:140675000..140676654-chr7:140692083..140692972,8	MCF-7	breast:
14	chr7:140673174..140674792-chr7:140679004..140681718,2	MCF-7	breast:
15	chr7:140673174..140674792-chr7:140679004..140681718,2	MCF-7	breast:
16	chr7:140681893..140682531-chr7:140692420..140692920,2	MCF-7	breast:
17	chr7:140668526..140670352-chr7:140672310..140674813,2	MCF-7	breast:
18	chr7:140674937..140676218-chr7:140692083..140692979,12	MCF-7	breast:
19	chr7:140664931..140667594-chr7:140670729..140673169,2	K562	blood:
20	chr7:140672428..140674348-chr7:140681005..140683175,2	K562	blood:
21	chr7:140667563..140669142-chr7:140674491..140677083,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000157764	chromatin interactions

Extended variants
information (count: 536 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:536 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549549196	chr7:140666924-140666925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568127360	chr7:140666927-140666928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535221094	chr7:140666958-140666959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184523259	chr7:140666964-140666965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13236223	chr7:140666965-140666966	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs566287224	chr7:140666973-140666974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs57378038	chr7:140666985-140666986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs397764826	chr7:140666995-140666996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs202229384	chr7:140666996-140666997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540092171	chr7:140667098-140667099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375909225	chr7:140667104-140667105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576132088	chr7:140667206-140667207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554084287	chr7:140667216-140667217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558488008	chr7:140667240-140667241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113389366	chr7:140667241-140667242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147584982	chr7:140667244-140667245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144901265	chr7:140667263-140667264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537431122	chr7:140667349-140667350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555498733	chr7:140667356-140667357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116153942	chr7:140667445-140667446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571660034	chr7:140667574-140667575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560244632	chr7:140667592-140667593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35744583	chr7:140667614-140667615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188538038	chr7:140667616-140667617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538984585	chr7:140667625-140667626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531531089	chr7:140667646-140667647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554203266	chr7:140667704-140667705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs193163657	chr7:140667723-140667724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115003077	chr7:140667724-140667725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13438609	chr7:140667768-140667769	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs62485450	chr7:140667778-140667779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
32	rs185374818	chr7:140667893-140667894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540022183	chr7:140667976-140667977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190718186	chr7:140668011-140668012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374018554	chr7:140668058-140668059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111291227	chr7:140668184-140668185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537359770	chr7:140668230-140668231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544834524	chr7:140668376-140668377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555690081	chr7:140668396-140668397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573951912	chr7:140668442-140668443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535062583	chr7:140668454-140668455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13222257	chr7:140668579-140668580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141992344	chr7:140668587-140668588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4726134	chr7:140668600-140668601	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs4726135	chr7:140668619-140668620	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs572512385	chr7:140668635-140668636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79069982	chr7:140668674-140668675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146330068	chr7:140668686-140668687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561679226	chr7:140668715-140668716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528880678	chr7:140668749-140668750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
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
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Low-grade astrocytoma	19016743	CNVD
Pediatric low-grade astrocytoma	19016743	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Gastric cancer	16891809	CNVD
Cancer	17440070	CNVD
Astrocytoma	18398503	CNVD
Melanoma	19671679	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
Glioblastoma multiforme	21525872	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140657200-140669000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:140665200-140667600	Enhancers	Fetal Intestine Large	intestine
3	chr7:140666400-140667000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr7:140666400-140667800	Enhancers	Fetal Intestine Small	intestine
5	chr7:140666400-140668800	Enhancers	HepG2	liver
6	chr7:140666800-140667600	Enhancers	Placenta	Placenta
7	chr7:140667600-140672400	Weak transcription	Placenta	Placenta
8	chr7:140667600-140672600	Weak transcription	Fetal Intestine Large	intestine
9	chr7:140667800-140672800	Weak transcription	Fetal Intestine Small	intestine
10	chr7:140668800-140671400	Weak transcription	HepG2	liver
11	chr7:140671400-140672200	Enhancers	HepG2	liver
12	chr7:140672000-140673800	Enhancers	Liver	Liver
13	chr7:140672200-140673600	Flanking Active TSS	HepG2	liver
14	chr7:140672400-140673800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr7:140672400-140673800	Enhancers	Placenta	Placenta
16	chr7:140672400-140674000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:140672600-140673800	Enhancers	Fetal Intestine Large	intestine
18	chr7:140672800-140673800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:140672800-140674000	Enhancers	Adipose Nuclei	Adipose
20	chr7:140672800-140674000	Enhancers	Fetal Intestine Small	intestine
21	chr7:140673000-140673200	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr7:140673000-140673600	Enhancers	Hela-S3	cervix
23	chr7:140673000-140674000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr7:140673600-140674200	Enhancers	HepG2	liver
25	chr7:140673800-140675400	Weak transcription	Fetal Intestine Large	intestine
26	chr7:140673800-140675600	Weak transcription	Liver	Liver
27	chr7:140673800-140675600	Weak transcription	Placenta	Placenta
28	chr7:140674000-140675400	Weak transcription	Adipose Nuclei	Adipose
29	chr7:140674000-140675400	Weak transcription	Fetal Intestine Small	intestine
30	chr7:140674000-140675800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr7:140674200-140674800	Weak transcription	HepG2	liver
32	chr7:140674800-140675400	Enhancers	HepG2	liver
33	chr7:140675400-140676400	Enhancers	Adipose Nuclei	Adipose
34	chr7:140675400-140676400	Flanking Active TSS	HepG2	liver
35	chr7:140675400-140677800	Enhancers	Fetal Intestine Large	intestine
36	chr7:140675400-140677800	Enhancers	Fetal Intestine Small	intestine
37	chr7:140675600-140675800	Enhancers	Liver	Liver
38	chr7:140675600-140676400	Enhancers	Duodenum Mucosa	Duodenum
39	chr7:140675600-140676400	Enhancers	Placenta	Placenta
40	chr7:140675600-140676400	Enhancers	Gastric	stomach
41	chr7:140675600-140676600	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr7:140675600-140676800	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr7:140675800-140676000	Flanking Active TSS	Liver	Liver
44	chr7:140675800-140676200	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr7:140675800-140677400	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr7:140676000-140676200	Enhancers	Liver	Liver
47	chr7:140676000-140677200	Enhancers	Stomach Mucosa	stomach
48	chr7:140676200-140676400	Flanking Active TSS	Liver	Liver
49	chr7:140676400-140676600	Enhancers	Liver	Liver
50	chr7:140676400-140677000	Weak transcription	Adipose Nuclei	Adipose

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