Variant report

Variant	esv3355856
Chromosome Location	chr7:139708308-139710856
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139704249..139705856-chr7:139707585..139709805,2	MCF-7	breast:
2	chr7:139710366..139712669-chr7:139733842..139735376,2	MCF-7	breast:
3	chr7:139190866..139192504-chr7:139706360..139708472,2	K562	blood:
4	chr7:139708154..139710835-chr7:139713818..139716854,4	K562	blood:
5	chr7:139708923..139710812-chr7:139717040..139718668,2	K562	blood:
6	chr7:139707115..139709190-chr7:139721974..139723889,2	MCF-7	breast:
7	chr7:139328626..139331873-chr7:139705431..139708585,4	K562	blood:

Variant related genes	Relation type
ENSG00000059378	chromatin interactions

Extended variants
information (count: 115 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373941149	chr7:139708312-139708313	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2008810	chr7:139708316-139708317	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs565152028	chr7:139708317-139708318	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139230791	chr7:139708319-139708320	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2005751	chr7:139708408-139708409	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs569418952	chr7:139708437-139708438	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536732661	chr7:139708451-139708452	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548664778	chr7:139708528-139708529	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113654676	chr7:139708529-139708530	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148690325	chr7:139708642-139708643	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs559004007	chr7:139708811-139708812	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs191220292	chr7:139708837-139708838	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs12703488	chr7:139708901-139708902	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs556536268	chr7:139708902-139708903	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs552278598	chr7:139708916-139708917	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs575036055	chr7:139708944-139708945	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs542317898	chr7:139708948-139708949	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs376511154	chr7:139708961-139708962	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs151238141	chr7:139708987-139708988	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs570538322	chr7:139709007-139709008	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs373970787	chr7:139709016-139709017	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs377573683	chr7:139709043-139709044	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs572967014	chr7:139709083-139709084	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs540405340	chr7:139709095-139709096	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs565059601	chr7:139709120-139709121	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs534859559	chr7:139709126-139709127	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs141564058	chr7:139709127-139709128	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs147042843	chr7:139709194-139709195	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs111321069	chr7:139709201-139709202	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73734175	chr7:139709250-139709251	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs73734177	chr7:139709253-139709254	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs566924799	chr7:139709290-139709291	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377000329	chr7:139709301-139709302	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552717843	chr7:139709331-139709332	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs28680590	chr7:139709334-139709335	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538140194	chr7:139709347-139709348	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556392242	chr7:139709397-139709398	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568533163	chr7:139709418-139709419	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535809766	chr7:139709419-139709420	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183537260	chr7:139709421-139709422	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535376018	chr7:139709462-139709463	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556907327	chr7:139709481-139709482	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575261850	chr7:139709506-139709507	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554400318	chr7:139709535-139709536	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539529583	chr7:139709572-139709573	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558269833	chr7:139709580-139709581	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573351301	chr7:139709581-139709582	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540777792	chr7:139709591-139709592	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562155393	chr7:139709594-139709595	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574356133	chr7:139709606-139709607	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21781307	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139681000-139717800	Weak transcription	Thymus	Thymus
2	chr7:139693200-139729000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr7:139695200-139721600	Weak transcription	Colonic Mucosa	Colon
4	chr7:139695800-139709000	Weak transcription	Gastric	stomach
5	chr7:139702200-139712000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:139702200-139721800	Weak transcription	Fetal Thymus	thymus
7	chr7:139702400-139722400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr7:139702600-139742200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:139703200-139727800	Weak transcription	Right Atrium	heart
10	chr7:139704200-139710200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:139704200-139728800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr7:139705400-139722000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:139706000-139710400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr7:139706000-139727800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:139706200-139708600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:139706200-139710200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:139706400-139709800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:139706400-139710600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:139706400-139718400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:139706800-139709000	Enhancers	Fetal Heart	heart
21	chr7:139707200-139711400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr7:139707400-139708400	Strong transcription	Primary hematopoietic stem cells	blood
23	chr7:139707600-139713200	Weak transcription	Lung	lung
24	chr7:139707800-139722200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:139708000-139708600	Weak transcription	Spleen	Spleen
26	chr7:139708400-139711800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr7:139708600-139708800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:139708600-139708800	Enhancers	Esophagus	oesophagus
29	chr7:139708600-139709000	Enhancers	Brain Angular Gyrus	brain
30	chr7:139708600-139709000	Enhancers	Brain Cingulate Gyrus	brain
31	chr7:139708600-139709000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr7:139708600-139709000	Enhancers	Brain Substantia Nigra	brain
33	chr7:139708600-139709200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:139708600-139709200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr7:139708600-139709200	Enhancers	Fetal Muscle Leg	muscle
36	chr7:139708600-139709200	Strong transcription	Spleen	Spleen
37	chr7:139708600-139709400	Enhancers	Liver	Liver
38	chr7:139708600-139710600	Enhancers	Pancreas	Pancrea
39	chr7:139708600-139710600	Enhancers	Stomach Mucosa	stomach
40	chr7:139708800-139709000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr7:139708800-139709000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr7:139708800-139709400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr7:139708800-139717000	Weak transcription	Esophagus	oesophagus
44	chr7:139709000-139709200	Enhancers	H1 Cell Line	embryonic stem cell
45	chr7:139709000-139709200	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
46	chr7:139709000-139710000	Enhancers	Gastric	stomach
47	chr7:139709000-139710200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr7:139709000-139710200	Weak transcription	Fetal Heart	heart
49	chr7:139709000-139710400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr7:139709200-139710200	Weak transcription	H1 Cell Line	embryonic stem cell

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