Variant report

Variant	esv3352638
Chromosome Location	chr7:69959516-69963014
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	chr7:69962073..69964244-chr7:69965970..69968066,2	K562	blood:
2	chr7:69951787..69954250-chr7:69957841..69960555,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WBSCR17-4	chr7:69960515-69961328	NONHSAT121332
2	lnc-WBSCR17-4	chr7:69961634-69962155	NONHSAT121332

Extended variants
information (count: 204 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185689900	chr7:69959531-69959532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547465820	chr7:69959548-69959549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143240687	chr7:69959566-69959567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573154941	chr7:69959570-69959571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540667434	chr7:69959581-69959582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555720860	chr7:69959588-69959589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574094853	chr7:69959598-69959599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544693320	chr7:69959601-69959602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375605774	chr7:69959741-69959742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533365154	chr7:69959748-69959749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545168977	chr7:69959773-69959774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190364987	chr7:69959815-69959816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559721217	chr7:69959881-69959882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370221882	chr7:69959907-69959908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560441100	chr7:69959925-69959926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527962520	chr7:69959935-69959936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546326100	chr7:69959942-69959943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568051685	chr7:69959945-69959946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528843513	chr7:69960018-69960019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550666368	chr7:69960046-69960047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568948732	chr7:69960064-69960065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539674462	chr7:69960108-69960109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566801616	chr7:69960112-69960113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529186595	chr7:69960134-69960135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551589062	chr7:69960137-69960138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181044084	chr7:69960147-69960148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534089432	chr7:69960148-69960149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555324910	chr7:69960163-69960164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573986606	chr7:69960174-69960175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79798589	chr7:69960244-69960245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34861688	chr7:69960245-69960246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185247919	chr7:69960268-69960269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188783474	chr7:69960277-69960278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373837911	chr7:69960324-69960325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143746062	chr7:69960348-69960349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560303652	chr7:69960368-69960369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572259736	chr7:69960401-69960402	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181347365	chr7:69960431-69960432	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542990190	chr7:69960437-69960438	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549215724	chr7:69960450-69960451	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147228036	chr7:69960513-69960514	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113631540	chr7:69960519-69960520	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs550287537	chr7:69960521-69960522	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs112913171	chr7:69960532-69960533	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs185568633	chr7:69960535-69960536	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs562609792	chr7:69960554-69960555	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs138287065	chr7:69960568-69960569	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs143401045	chr7:69960581-69960582	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs376995506	chr7:69960595-69960596	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs201673029	chr7:69960601-69960602	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
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
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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Dyslexia	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69922000-69963800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:69938400-69969000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:69943000-69984600	Weak transcription	Ovary	ovary
4	chr7:69946400-69960800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:69950600-69962800	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:69952200-69961800	Weak transcription	Fetal Brain Female	brain
7	chr7:69953000-69976000	Weak transcription	Fetal Intestine Small	intestine
8	chr7:69953200-69962600	Weak transcription	Brain Germinal Matrix	brain
9	chr7:69953800-69964400	Weak transcription	Spleen	Spleen
10	chr7:69955400-69963200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr7:69955600-69960800	Weak transcription	Gastric	stomach
12	chr7:69955600-69963000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:69957000-69959800	Enhancers	Fetal Stomach	stomach
14	chr7:69957200-69975000	Weak transcription	Brain Hippocampus Middle	brain
15	chr7:69957400-69961800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr7:69957800-69960600	Weak transcription	Fetal Brain Male	brain
17	chr7:69957800-69961600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:69958200-69962400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:69958400-69959800	Weak transcription	Fetal Lung	lung
20	chr7:69958400-69969200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:69958600-69963400	Weak transcription	Fetal Heart	heart
22	chr7:69959000-69959800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:69959200-69960400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:69959200-69960800	Weak transcription	Brain Angular Gyrus	brain
25	chr7:69959400-69959600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:69959600-69960400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:69959800-69960000	Enhancers	Brain Cingulate Gyrus	brain
28	chr7:69959800-69960600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:69959800-69960600	Enhancers	Fetal Lung	lung
30	chr7:69959800-69960800	Weak transcription	Fetal Stomach	stomach
31	chr7:69960000-69967200	Weak transcription	Fetal Kidney	kidney
32	chr7:69960000-69971400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr7:69960200-69962400	Weak transcription	Dnd41	blood
34	chr7:69960400-69960800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:69960400-69973000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:69960600-69961000	Enhancers	Pancreas	Pancrea
37	chr7:69960600-69961400	Weak transcription	Fetal Lung	lung
38	chr7:69960600-69962200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:69960600-69963000	Enhancers	Esophagus	oesophagus
40	chr7:69960600-69964600	Enhancers	Fetal Brain Male	brain
41	chr7:69960800-69961000	ZNF genes & repeats	A549	lung
42	chr7:69960800-69961400	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:69960800-69961600	Strong transcription	Brain Angular Gyrus	brain
44	chr7:69960800-69962000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:69960800-69962000	Strong transcription	Fetal Stomach	stomach
46	chr7:69960800-69962000	Genic enhancers	Gastric	stomach
47	chr7:69961000-69961800	Weak transcription	Pancreas	Pancrea
48	chr7:69961400-69961800	Active TSS	Fetal Lung	lung
49	chr7:69961400-69962000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:69961600-69962000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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