Variant report

Variant	esv3477196
Chromosome Location	chr7:40051548-40063888
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:40038038..40041383-chr7:40051581..40055589,3	K562	blood:
2	chr7:39784501..39786932-chr7:40060004..40061750,2	MCF-7	breast:
3	chr11:126173275..126173777-chr7:40061848..40062348,2	NB4	blood:
4	chr7:39987746..39990922-chr7:40055976..40057979,3	K562	blood:
5	chr7:39988550..39991713-chr7:40061558..40063608,3	K562	blood:
6	chr7:40048549..40051232-chr7:40060255..40062264,2	K562	blood:
7	chr7:40059026..40061512-chr7:40062237..40065156,2	MCF-7	breast:
8	chr7:40055192..40057711-chr7:40058795..40061552,3	K562	blood:
9	chr7:40055192..40057711-chr7:40058795..40061552,3	K562	blood:
10	chr7:40048646..40050601-chr7:40053388..40055304,2	K562	blood:
11	chr7:40059026..40061512-chr7:40062237..40065156,2	MCF-7	breast:
12	chr7:40038956..40041383-chr7:40052873..40055589,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259826	chromatin interactions
ENSG00000065883	chromatin interactions
ENSG00000110063	chromatin interactions

Extended variants
information (count: 463 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:463 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368893729	chr7:40051549-40051550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528507296	chr7:40051613-40051614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372565019	chr7:40051622-40051623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142374453	chr7:40051644-40051645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545254833	chr7:40051648-40051649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115744745	chr7:40051664-40051665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550746051	chr7:40051670-40051671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113608213	chr7:40051707-40051708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112315246	chr7:40051710-40051711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199735141	chr7:40051729-40051730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1082032	chr7:40051731-40051732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201594768	chr7:40051734-40051735	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200615487	chr7:40051738-40051739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183984447	chr7:40051748-40051749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148274621	chr7:40051798-40051799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571562348	chr7:40051816-40051817	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547355456	chr7:40051854-40051855	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537396962	chr7:40051873-40051874	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371032537	chr7:40051929-40051930	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28767246	chr7:40051952-40051953	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550500155	chr7:40051966-40051967	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188739544	chr7:40051988-40051989	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553166637	chr7:40052000-40052001	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573299703	chr7:40052009-40052010	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539417296	chr7:40052010-40052011	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562842398	chr7:40052029-40052030	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545031431	chr7:40052061-40052062	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150796650	chr7:40052114-40052115	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377090510	chr7:40052225-40052226	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111800683	chr7:40052288-40052289	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560414911	chr7:40052308-40052309	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs180805932	chr7:40052338-40052339	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145215114	chr7:40052340-40052341	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147489966	chr7:40052356-40052357	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546795290	chr7:40052371-40052372	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559952242	chr7:40052397-40052398	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2687597	chr7:40052403-40052404	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs111230111	chr7:40052435-40052436	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368110720	chr7:40052483-40052484	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533062592	chr7:40052489-40052490	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs61228761	chr7:40052511-40052512	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537335726	chr7:40052585-40052586	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149986002	chr7:40052591-40052592	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567643400	chr7:40052607-40052608	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536414000	chr7:40052612-40052613	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115028261	chr7:40052627-40052628	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs56885787	chr7:40052663-40052664	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs186201505	chr7:40052664-40052665	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114785103	chr7:40052703-40052704	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191960728	chr7:40052719-40052720	Weak transcription Strong transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	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
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:458 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40020400-40077600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:40025600-40055400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:40025800-40054800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr7:40025800-40055400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr7:40025800-40055400	Weak transcription	Fetal Heart	heart
6	chr7:40025800-40055400	Weak transcription	Stomach Mucosa	stomach
7	chr7:40025800-40059600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:40025800-40062800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:40025800-40082200	Weak transcription	Spleen	Spleen
10	chr7:40026000-40071200	Weak transcription	Brain Germinal Matrix	brain
11	chr7:40026600-40096800	Weak transcription	Right Ventricle	heart
12	chr7:40027800-40053800	Weak transcription	HepG2	liver
13	chr7:40027800-40054800	Weak transcription	Aorta	Aorta
14	chr7:40027800-40055400	Weak transcription	Fetal Brain Female	brain
15	chr7:40028000-40077800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:40028000-40127800	Weak transcription	Colonic Mucosa	Colon
17	chr7:40028200-40073000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr7:40034400-40072200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr7:40036600-40053000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:40041400-40051600	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr7:40042600-40055400	Weak transcription	Psoas Muscle	Psoas
22	chr7:40042800-40070400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr7:40043000-40061600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr7:40043400-40054800	Weak transcription	Gastric	stomach
25	chr7:40043600-40052400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:40043600-40054000	Weak transcription	Pancreas	Pancrea
27	chr7:40043600-40057800	Weak transcription	HUVEC	blood vessel
28	chr7:40043600-40058000	Weak transcription	Fetal Brain Male	brain
29	chr7:40043600-40059800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr7:40043600-40067000	Weak transcription	K562	blood
31	chr7:40043600-40071600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr7:40043600-40076000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:40043600-40079800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr7:40043600-40095200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr7:40043600-40127800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr7:40043800-40055400	Weak transcription	Colon Smooth Muscle	Colon
37	chr7:40043800-40055400	Weak transcription	Fetal Lung	lung
38	chr7:40044400-40096000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:40045000-40052800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:40045200-40052800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr7:40045800-40054800	Weak transcription	GM12878-XiMat	blood
42	chr7:40046600-40052000	Strong transcription	Fetal Thymus	thymus
43	chr7:40047400-40054000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:40047600-40102600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr7:40047800-40051600	Strong transcription	Placenta	Placenta
46	chr7:40047800-40052200	Strong transcription	Fetal Muscle Leg	muscle
47	chr7:40048000-40054800	Weak transcription	Brain Anterior Caudate	brain
48	chr7:40048000-40102400	Weak transcription	HMEC	breast
49	chr7:40048000-40102400	Weak transcription	NHEK	skin
50	chr7:40048200-40055400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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