Variant report

Variant	esv3335685
Chromosome Location	chr7:137572969-137573849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137545557..137547633-chr7:137570311..137573208,2	MCF-7	breast:
2	chr7:137569917..137572586-chr7:137572838..137575553,3	K562	blood:
3	chr7:137570597..137573428-chr7:137582615..137585579,3	K562	blood:
4	chr7:137285346..137287322-chr7:137572540..137575498,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540041351	chr7:137573016-137573017	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560012686	chr7:137573024-137573025	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368116617	chr7:137573052-137573053	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543137419	chr7:137573068-137573069	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529206856	chr7:137573150-137573151	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548942473	chr7:137573167-137573168	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568731727	chr7:137573257-137573258	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559783300	chr7:137573289-137573290	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185408540	chr7:137573294-137573295	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187599794	chr7:137573381-137573382	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571366792	chr7:137573395-137573396	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369002143	chr7:137573416-137573417	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371537360	chr7:137573420-137573421	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540034294	chr7:137573434-137573435	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528443178	chr7:137573453-137573454	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553645861	chr7:137573472-137573473	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372340844	chr7:137573478-137573479	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs7801988	chr7:137573503-137573504	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs192020982	chr7:137573511-137573512	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556050680	chr7:137573527-137573528	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139628765	chr7:137573565-137573566	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377252058	chr7:137573593-137573594	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577764133	chr7:137573635-137573636	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1424381	chr7:137573662-137573663	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559943342	chr7:137573698-137573699	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529107589	chr7:137573710-137573711	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542523330	chr7:137573711-137573712	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184211371	chr7:137573752-137573753	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144282304	chr7:137573759-137573760	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369300516	chr7:137573776-137573777	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551440927	chr7:137573781-137573782	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571354522	chr7:137573802-137573803	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11976163	chr7:137573822-137573823	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1424382	chr7:137573824-137573825	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188496859	chr7:137573835-137573836	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544989061	chr7:137573840-137573841	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	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
Cancer	17440070	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137533800-137575400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:137555600-137583200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr7:137556000-137573600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:137557800-137583800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:137558400-137579200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:137558800-137588400	Weak transcription	Stomach Mucosa	stomach
7	chr7:137559400-137575200	Strong transcription	HepG2	liver
8	chr7:137561000-137577000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr7:137563400-137575200	Weak transcription	Psoas Muscle	Psoas
10	chr7:137564600-137575400	Strong transcription	Placenta Amnion	Placenta Amnion
11	chr7:137565200-137574200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:137567200-137583800	Strong transcription	Liver	Liver
13	chr7:137567400-137580200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:137567400-137583400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr7:137567400-137583800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:137567400-137584000	Strong transcription	Fetal Intestine Large	intestine
17	chr7:137567600-137573800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:137567800-137573000	Strong transcription	GM12878-XiMat	blood
19	chr7:137568000-137573200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:137568000-137573400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:137568000-137574200	Strong transcription	Fetal Intestine Small	intestine
22	chr7:137568000-137584200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:137568600-137575200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:137568600-137584000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr7:137568800-137578800	Weak transcription	Fetal Kidney	kidney
26	chr7:137569600-137574200	Genic enhancers	Placenta	Placenta
27	chr7:137570000-137573600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr7:137570200-137574400	Weak transcription	Dnd41	blood
29	chr7:137570200-137575200	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr7:137570200-137575200	Weak transcription	NHDF-Ad	bronchial
31	chr7:137570200-137577800	Weak transcription	Small Intestine	intestine
32	chr7:137570200-137578600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr7:137570200-137578600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr7:137570200-137579800	Weak transcription	A549	lung
35	chr7:137570400-137573200	Weak transcription	Pancreas	Pancrea
36	chr7:137570400-137573200	Weak transcription	Right Atrium	heart
37	chr7:137570400-137578200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr7:137570400-137578400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr7:137570400-137578600	Weak transcription	Aorta	Aorta
40	chr7:137570400-137579200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:137570400-137584000	Weak transcription	Fetal Thymus	thymus
42	chr7:137570400-137585800	Weak transcription	Hela-S3	cervix
43	chr7:137570600-137573200	Weak transcription	Right Ventricle	heart
44	chr7:137570600-137573800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:137570600-137573800	Weak transcription	Primary T cells from cord blood	blood
46	chr7:137570600-137575200	Weak transcription	Left Ventricle	heart
47	chr7:137570600-137575200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr7:137570600-137575400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr7:137570600-137575400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr7:137570600-137578000	Weak transcription	HUVEC	blood vessel

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