Variant report

Variant	esv3418683
Chromosome Location	chr7:27651777-27653975
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27646394..27648572-chr7:27650317..27653232,2	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574646903	chr7:27651867-27651868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545962522	chr7:27651873-27651874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553000775	chr7:27651952-27651953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371451440	chr7:27651977-27651978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560522178	chr7:27651988-27651989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374910287	chr7:27652028-27652029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527715158	chr7:27652038-27652039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552701279	chr7:27652062-27652063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372924069	chr7:27652069-27652070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116397289	chr7:27652092-27652093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111428089	chr7:27652129-27652130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377170473	chr7:27652131-27652132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370924269	chr7:27652132-27652133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369308774	chr7:27652144-27652145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187864021	chr7:27652150-27652151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576167359	chr7:27652162-27652163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555263309	chr7:27652163-27652164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13226102	chr7:27652176-27652177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs147329925	chr7:27652194-27652195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62454872	chr7:27652232-27652233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs575206423	chr7:27652300-27652301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71539530	chr7:27652321-27652322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71539531	chr7:27652336-27652337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13308974	chr7:27652338-27652339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs191986864	chr7:27652378-27652379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576481656	chr7:27652379-27652380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71554099	chr7:27652389-27652390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183360784	chr7:27652398-27652399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528119353	chr7:27652568-27652569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188050715	chr7:27652574-27652575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71539532	chr7:27652587-27652588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12534603	chr7:27652653-27652654	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
33	rs200637153	chr7:27652669-27652670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7459009	chr7:27652690-27652691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199543684	chr7:27652720-27652721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200333375	chr7:27652766-27652767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7456656	chr7:27652775-27652776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7456657	chr7:27652776-27652777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377147594	chr7:27652792-27652793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62454873	chr7:27652794-27652795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201198324	chr7:27652798-27652799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13229579	chr7:27652800-27652801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11442513	chr7:27652801-27652802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563347073	chr7:27652852-27652853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10553105	chr7:27652924-27652925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138118739	chr7:27652925-27652926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs5883096	chr7:27652938-27652939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560477400	chr7:27652960-27652961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548343744	chr7:27652964-27652965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572463820	chr7:27652986-27652987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27615600-27657800	Weak transcription	Aorta	Aorta
2	chr7:27626600-27654800	Weak transcription	Placenta	Placenta
3	chr7:27626800-27655800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:27628200-27658400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:27628600-27658400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr7:27629600-27655400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:27630200-27654600	Weak transcription	Primary B cells from cord blood	blood
8	chr7:27630400-27656800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr7:27632200-27655600	Weak transcription	Primary T cells from cord blood	blood
10	chr7:27644200-27655400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:27644400-27658400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr7:27645400-27655600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:27646000-27655200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:27646200-27651800	Enhancers	Hela-S3	cervix
15	chr7:27646200-27655600	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:27646200-27657800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr7:27646400-27654800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:27646400-27655600	Weak transcription	Fetal Stomach	stomach
19	chr7:27646600-27656600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr7:27646600-27658400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:27646800-27655600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:27646800-27657800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:27646800-27658800	Weak transcription	Osteobl	bone
24	chr7:27646800-27659600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:27647000-27655800	Weak transcription	Ovary	ovary
26	chr7:27647000-27657200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:27647000-27660200	Weak transcription	Small Intestine	intestine
28	chr7:27647200-27655600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:27647200-27655600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:27648600-27655600	Weak transcription	HepG2	liver
31	chr7:27648600-27659800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr7:27648800-27657800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:27648800-27658200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr7:27648800-27658200	Weak transcription	HSMMtube	muscle
35	chr7:27649000-27655800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr7:27649000-27658400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:27649200-27655000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:27649200-27655400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:27649200-27655600	Weak transcription	Fetal Intestine Large	intestine
40	chr7:27649200-27655600	Weak transcription	Fetal Intestine Small	intestine
41	chr7:27649200-27658000	Weak transcription	K562	blood
42	chr7:27649200-27659400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr7:27649400-27654800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:27649400-27655600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr7:27650000-27657000	Weak transcription	A549	lung
46	chr7:27650800-27654400	Weak transcription	HSMM	muscle
47	chr7:27651200-27655400	Weak transcription	Liver	Liver
48	chr7:27651200-27655600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:27651200-27655600	Weak transcription	Fetal Lung	lung
50	chr7:27651200-27655600	Weak transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links