Variant report

Variant	nsv981591
Chromosome Location	chr7:140159408-140160978
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:140160532-140161348	K562	blood:	n/a	n/a
2	POLR2A	chr7:140157557-140159917	K562	blood:	n/a	n/a
3	STAT3	chr7:140160645-140160765	MCF10A-Er-Src	breast:	n/a	n/a
4	TCF7L2	chr7:140160741-140160948	MCF-7	breast:	n/a	chr7:140160882-140160896

No.	Distal block	Cell Line	Cell type
1	chr7:140158988..140161264-chr7:140165507..140167468,2	K562	blood:
2	chr7:140147282..140150132-chr7:140156885..140159416,3	K562	blood:
3	chr7:140159764..140161788-chr7:140164687..140167007,2	K562	blood:
4	chr7:140157011..140159254-chr7:140159407..140161490,2	K562	blood:
5	chr7:140154066..140157703-chr7:140158692..140161439,4	K562	blood:

Variant related genes	Relation type
MKRN1	TF binding region
ENSG00000133606	chromatin interactions

Extended variants
information (count: 82 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564152079	chr7:140159411-140159412	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs547680236	chr7:140159432-140159433	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs544776665	chr7:140159435-140159436	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs144723210	chr7:140159451-140159452	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs549908504	chr7:140159452-140159453	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs148103767	chr7:140159462-140159463	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs73485155	chr7:140159467-140159468	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs201667171	chr7:140159521-140159522	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs374250184	chr7:140159523-140159524	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs142029587	chr7:140159562-140159563	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs150662826	chr7:140159577-140159578	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs373946584	chr7:140159582-140159583	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs539604836	chr7:140159589-140159590	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs375505852	chr7:140159601-140159602	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs141902077	chr7:140159611-140159612	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs371705983	chr7:140159614-140159615	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs1043776	chr7:140159633-140159634	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs143237010	chr7:140159643-140159644	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs147474750	chr7:140159674-140159675	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs10243155	chr7:140159721-140159722	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs369870679	chr7:140159756-140159757	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs373210739	chr7:140159760-140159761	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs183792436	chr7:140159765-140159766	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs377447350	chr7:140159770-140159771	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs375808428	chr7:140159772-140159773	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs188671896	chr7:140159773-140159774	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs11763850	chr7:140159798-140159799	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs140930652	chr7:140159829-140159830	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs191927030	chr7:140159838-140159839	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs184483440	chr7:140159861-140159862	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs563828672	chr7:140159876-140159877	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs531140498	chr7:140159892-140159893	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs564142443	chr7:140159893-140159894	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs543511060	chr7:140159910-140159911	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs561788981	chr7:140159911-140159912	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs548438129	chr7:140159917-140159918	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs377148562	chr7:140159921-140159922	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs190090121	chr7:140159940-140159941	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs58076938	chr7:140159942-140159943	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs565955446	chr7:140159995-140159996	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs532061767	chr7:140159996-140159997	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs533122979	chr7:140160025-140160026	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs13312139	chr7:140160026-140160027	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs548142366	chr7:140160046-140160047	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs555697074	chr7:140160047-140160048	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs58698651	chr7:140160063-140160064	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs558408686	chr7:140160082-140160083	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs368309942	chr7:140160105-140160106	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs372520339	chr7:140160110-140160111	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs375080835	chr7:140160111-140160112	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Bladder cancer	21909424	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
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19826477	CNVD
Melanoma	19509136	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140126400-140176600	Weak transcription	Right Atrium	heart
2	chr7:140150800-140171800	Strong transcription	Fetal Thymus	thymus
3	chr7:140151000-140171600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:140151000-140171600	Strong transcription	Duodenum Smooth Muscle	Duodenum
5	chr7:140151000-140173400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr7:140151200-140160600	Weak transcription	Stomach Mucosa	stomach
7	chr7:140151200-140161800	Strong transcription	Placenta	Placenta
8	chr7:140151200-140171600	Strong transcription	Adipose Nuclei	Adipose
9	chr7:140151200-140172200	Strong transcription	Fetal Stomach	stomach
10	chr7:140151400-140161000	Strong transcription	Primary B cells from cord blood	blood
11	chr7:140151400-140162400	Strong transcription	Thymus	Thymus
12	chr7:140151400-140163600	Strong transcription	Primary T cells from cord blood	blood
13	chr7:140151400-140171800	Strong transcription	Primary B cells from peripheral blood	blood
14	chr7:140151400-140172200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:140151600-140172200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:140151800-140172200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:140151800-140176600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:140152200-140163000	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr7:140152200-140163000	Strong transcription	Fetal Muscle Leg	muscle
20	chr7:140152200-140171400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr7:140152200-140172000	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr7:140152200-140172000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr7:140152200-140172000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:140152200-140172200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr7:140152400-140163400	Strong transcription	Dnd41	blood
26	chr7:140152400-140166400	Strong transcription	Duodenum Mucosa	Duodenum
27	chr7:140152400-140171600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:140152400-140171600	Strong transcription	Stomach Smooth Muscle	stomach
29	chr7:140152400-140171800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:140152400-140172200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:140152600-140159800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:140152600-140161400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:140152600-140165800	Strong transcription	Spleen	Spleen
34	chr7:140152600-140167400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:140152600-140171800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:140152600-140171800	Strong transcription	K562	blood
37	chr7:140152600-140172200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr7:140152800-140161800	Strong transcription	Primary hematopoietic stem cells	blood
39	chr7:140152800-140171600	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr7:140153200-140163600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr7:140153200-140167600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:140153200-140171800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr7:140153400-140162200	Strong transcription	Lung	lung
44	chr7:140153600-140161200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr7:140153600-140161400	Strong transcription	Fetal Lung	lung
46	chr7:140153800-140162200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:140153800-140172200	Strong transcription	Fetal Muscle Trunk	muscle
48	chr7:140154400-140159800	Strong transcription	HMEC	breast
49	chr7:140155000-140166000	Strong transcription	GM12878-XiMat	blood
50	chr7:140155600-140159800	Genic enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links