Variant report

Variant	nsv1026995
Chromosome Location	chr7:140560822-140576935
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:140572911..140575551-chr7:140622620..140624458,2	MCF-7	breast:
2	chr7:140555134..140561473-chr7:140561764..140565765,7	K562	blood:
3	chr7:140571783..140574857-chr7:140622852..140625165,3	K562	blood:
4	chr7:140561409..140564479-chr7:140621368..140624778,3	K562	blood:
5	chr7:140557460..140561593-chr7:140571056..140573621,3	K562	blood:
6	chr7:140574947..140577128-chr7:140708628..140711066,2	K562	blood:
7	chr7:140555946..140559478-chr7:140574386..140576522,3	MCF-7	breast:
8	chr7:140567539..140569746-chr7:140571900..140574839,2	MCF-7	breast:
9	chr7:140560224..140564238-chr7:140566941..140570656,4	K562	blood:
10	chr7:140559359..140561224-chr7:140622825..140624908,2	MCF-7	breast:
11	chr7:140566130..140568402-chr7:140568584..140570185,2	MCF-7	breast:
12	chr7:140567539..140569746-chr7:140571900..140574839,2	MCF-7	breast:
13	chr7:140559226..140564238-chr7:140566941..140572115,8	K562	blood:
14	chr7:140576301..140578300-chr7:140622207..140624826,3	MCF-7	breast:
15	chr7:140557460..140561593-chr7:140571056..140573621,3	K562	blood:
16	chr7:140560224..140564238-chr7:140566941..140570656,4	K562	blood:
17	chr7:140559226..140564238-chr7:140566941..140572115,8	K562	blood:
18	chr7:140555134..140561473-chr7:140561764..140565765,7	K562	blood:
19	chr7:140566130..140568402-chr7:140568584..140570185,2	MCF-7	breast:
20	chr7:140555537..140558723-chr7:140560485..140562343,3	K562	blood:
21	chr7:140558657..140561729-chr7:140623344..140626449,3	K562	blood:
22	chr7:140559633..140561782-chr7:140587885..140590240,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000090263	chromatin interactions
ENSG00000157764	chromatin interactions

Extended variants
information (count: 597 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:597 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1922283	chr7:140560822-140560823	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs193101149	chr7:140560837-140560838	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562197010	chr7:140560869-140560870	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs577770818	chr7:140560895-140560896	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529556589	chr7:140560960-140560961	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs548009383	chr7:140560997-140560998	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs183644742	chr7:140560998-140560999	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs541360500	chr7:140561090-140561091	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs147654724	chr7:140561095-140561096	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs545152269	chr7:140561098-140561099	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs186952189	chr7:140561121-140561122	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545469712	chr7:140561128-140561129	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs559939104	chr7:140561156-140561157	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs35992125	chr7:140561203-140561204	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs570175994	chr7:140561216-140561217	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs2365151	chr7:140561235-140561236	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs555142666	chr7:140561269-140561270	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs1267619	chr7:140561286-140561287	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs535378432	chr7:140561322-140561323	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs553992677	chr7:140561425-140561426	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs572150401	chr7:140561523-140561524	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs539616487	chr7:140561566-140561567	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs140947321	chr7:140561571-140561572	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs576582250	chr7:140561582-140561583	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs150209901	chr7:140561603-140561604	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs115638504	chr7:140561852-140561853	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs555468018	chr7:140561865-140561866	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs573935571	chr7:140561870-140561871	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs138840824	chr7:140561891-140561892	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559965721	chr7:140561916-140561917	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs191699052	chr7:140562010-140562011	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs570017601	chr7:140562024-140562025	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs377173743	chr7:140562072-140562073	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs184292152	chr7:140562082-140562083	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs370935357	chr7:140562144-140562145	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs117824393	chr7:140562164-140562165	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs549791616	chr7:140562241-140562242	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs537078869	chr7:140562254-140562255	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs34438709	chr7:140562281-140562282	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs189641487	chr7:140562322-140562323	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs528834481	chr7:140562326-140562327	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs559176443	chr7:140562327-140562328	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs547398819	chr7:140562343-140562344	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs181697862	chr7:140562374-140562375	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs539671952	chr7:140562395-140562396	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs75009693	chr7:140562473-140562474	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs550303583	chr7:140562475-140562476	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs185171046	chr7:140562504-140562505	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs190460129	chr7:140562520-140562521	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs573970435	chr7:140562532-140562533	Weak transcription	Chromatin interactive region	1 gene(s)	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
Low-grade astrocytoma	19016743	CNVD
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	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:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140475000-140580200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:140511000-140563400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:140524400-140567800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:140525200-140567400	Weak transcription	Right Ventricle	heart
5	chr7:140527600-140573200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:140528600-140563400	Weak transcription	Esophagus	oesophagus
7	chr7:140530400-140564800	Weak transcription	Aorta	Aorta
8	chr7:140530600-140573200	Weak transcription	Gastric	stomach
9	chr7:140533600-140561600	Weak transcription	Small Intestine	intestine
10	chr7:140534600-140567600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:140534600-140570200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr7:140546000-140567600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:140546600-140563200	Weak transcription	K562	blood
14	chr7:140546600-140567200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:140546800-140561200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr7:140546800-140561400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:140546800-140561800	Weak transcription	GM12878-XiMat	blood
18	chr7:140547000-140561000	Weak transcription	Ovary	ovary
19	chr7:140547000-140564600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr7:140547000-140573200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:140547200-140567600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:140547200-140567600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:140547200-140573200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:140547200-140573400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:140547200-140582400	Weak transcription	Fetal Stomach	stomach
26	chr7:140547400-140563400	Weak transcription	Fetal Intestine Small	intestine
27	chr7:140547400-140572400	Weak transcription	Fetal Muscle Leg	muscle
28	chr7:140547600-140563400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:140547800-140563400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:140547800-140567600	Weak transcription	Thymus	Thymus
31	chr7:140548000-140564600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr7:140548200-140563600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr7:140548200-140576400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:140549000-140563200	Weak transcription	Primary T cells from cord blood	blood
35	chr7:140549000-140564000	Weak transcription	Fetal Brain Female	brain
36	chr7:140549000-140567600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:140549000-140567600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr7:140549000-140567600	Weak transcription	Liver	Liver
39	chr7:140549000-140594400	Weak transcription	Fetal Thymus	thymus
40	chr7:140549200-140563800	Weak transcription	Dnd41	blood
41	chr7:140549200-140567600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:140549200-140569000	Weak transcription	Fetal Intestine Large	intestine
43	chr7:140549200-140569800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr7:140549400-140579000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:140549600-140572400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr7:140551000-140563400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:140552200-140567600	Weak transcription	Psoas Muscle	Psoas
48	chr7:140552200-140573200	Weak transcription	Left Ventricle	heart
49	chr7:140557000-140561200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr7:140557000-140567600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links