Variant report

Variant	esv3498524
Chromosome Location	chr7:65939917-65943215
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GUSB-14	chr7:65941250-65941314	NONHSAT147568
2	lnc-GUSB-14	chr7:65941290-65941314	NONHSAT121184

Extended variants
information (count: 149 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544024544	chr7:65939937-65939938	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374030660	chr7:65939971-65939972	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12668128	chr7:65939974-65939975	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376685852	chr7:65939984-65939985	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200296532	chr7:65939991-65939992	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371006255	chr7:65940001-65940002	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574624717	chr7:65940007-65940008	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73699792	chr7:65940025-65940026	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187514989	chr7:65940090-65940091	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368259942	chr7:65940124-65940125	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146597960	chr7:65940160-65940161	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141440826	chr7:65940204-65940205	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146782479	chr7:65940252-65940253	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371419837	chr7:65940256-65940257	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559511324	chr7:65940259-65940260	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557229420	chr7:65940293-65940294	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528453911	chr7:65940309-65940310	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547323688	chr7:65940312-65940313	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570392090	chr7:65940321-65940322	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111420237	chr7:65940341-65940342	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533005328	chr7:65940358-65940359	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368830651	chr7:65940375-65940376	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549556794	chr7:65940385-65940386	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541096038	chr7:65940419-65940420	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192815962	chr7:65940431-65940432	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535218980	chr7:65940475-65940476	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555405706	chr7:65940493-65940494	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565573279	chr7:65940504-65940505	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534586880	chr7:65940513-65940514	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372507347	chr7:65940568-65940569	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6945896	chr7:65940582-65940583	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs568932946	chr7:65940583-65940584	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544087102	chr7:65940584-65940585	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545834009	chr7:65940603-65940604	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533344717	chr7:65940604-65940605	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574153212	chr7:65940647-65940648	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542771592	chr7:65940652-65940653	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559784912	chr7:65940693-65940694	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145139397	chr7:65940747-65940748	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545000328	chr7:65940759-65940760	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183306221	chr7:65940760-65940761	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187847932	chr7:65940770-65940771	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs117002258	chr7:65940857-65940858	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115071786	chr7:65940880-65940881	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529068030	chr7:65940890-65940891	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6947508	chr7:65940904-65940905	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548830867	chr7:65940961-65940962	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565761997	chr7:65940979-65940980	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113383808	chr7:65941001-65941002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534641919	chr7:65941002-65941003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
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
Hodgkin''s lymphoma	18641027	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
Glioblastoma	21080181	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	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
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:203 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65879200-65946000	Weak transcription	NHEK	skin
2	chr7:65879200-65957600	Weak transcription	Psoas Muscle	Psoas
3	chr7:65905600-65957600	Weak transcription	Fetal Lung	lung
4	chr7:65906000-65940200	Weak transcription	Fetal Intestine Large	intestine
5	chr7:65910200-65940000	Weak transcription	Placenta	Placenta
6	chr7:65911400-65957800	Weak transcription	Aorta	Aorta
7	chr7:65912000-65944000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:65913000-65946800	Weak transcription	Esophagus	oesophagus
9	chr7:65915800-65954200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:65917000-65957800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:65925000-65940400	Weak transcription	Brain Angular Gyrus	brain
12	chr7:65925000-65948400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:65925000-65957200	Weak transcription	Dnd41	blood
14	chr7:65925000-65957600	Weak transcription	Left Ventricle	heart
15	chr7:65925400-65955400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:65925400-65957200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:65926800-65940000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr7:65927600-65950000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:65927600-65957600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:65931200-65957600	Weak transcription	Right Ventricle	heart
21	chr7:65931400-65957800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr7:65932800-65940000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:65934600-65942200	Weak transcription	Stomach Mucosa	stomach
24	chr7:65934600-65955200	Weak transcription	HMEC	breast
25	chr7:65935800-65957600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr7:65936800-65942600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:65936800-65943200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:65937200-65957200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr7:65937200-65957200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr7:65937200-65957600	Weak transcription	HSMMtube	muscle
31	chr7:65937400-65943000	Weak transcription	Fetal Thymus	thymus
32	chr7:65937400-65946400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:65937400-65957200	Weak transcription	Right Atrium	heart
34	chr7:65937600-65940000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr7:65937600-65946800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr7:65937600-65958000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr7:65937800-65956600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:65937800-65957600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:65937800-65957800	Weak transcription	Fetal Kidney	kidney
40	chr7:65937800-65957800	Weak transcription	Small Intestine	intestine
41	chr7:65938200-65940600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:65938200-65941200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:65938200-65944000	Strong transcription	Primary T cells from cord blood	blood
44	chr7:65938200-65950800	Weak transcription	Fetal Brain Female	brain
45	chr7:65938200-65957600	Weak transcription	HSMM	muscle
46	chr7:65938400-65940000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:65938400-65940600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:65938400-65941000	Strong transcription	Thymus	Thymus
49	chr7:65938400-65943600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:65938600-65940600	Strong transcription	Pancreas	Pancrea

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