Variant report

Variant	esv2547495
Chromosome Location	chr3:112084576-112086011
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:0)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTLA-1	chr3:112085429-112085505	NONHSAT091172
2	lnc-BTLA-1	chr3:112085429-112085505	NONHSAT091173
3	lnc-BTLA-1	chr3:112085429-112085505	NONHSAT091167
4	lnc-BTLA-1	chr3:112085429-112085505	NONHSAT091174
5	lnc-BTLA-1	chr3:112085429-112085505	NONHSAT091168
6	lnc-BTLA-1	chr3:112085429-112085505	NONHSAT091170
7	lnc-BTLA-1	chr3:112085429-112085505	NONHSAT091169

No data

Extended variants
information (count: 48 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544314517	chr3:112084636-112084637	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73227445	chr3:112084637-112084638	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192715968	chr3:112084648-112084649	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571615954	chr3:112084653-112084654	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185438167	chr3:112084662-112084663	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79778215	chr3:112084669-112084670	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529124736	chr3:112084706-112084707	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549055553	chr3:112084720-112084721	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562481987	chr3:112084750-112084751	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531317310	chr3:112084755-112084756	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551365328	chr3:112084801-112084802	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148564195	chr3:112084827-112084828	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116489438	chr3:112084902-112084903	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372136816	chr3:112084914-112084915	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547319073	chr3:112084925-112084926	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567050102	chr3:112084994-112084995	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs59753245	chr3:112085046-112085047	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs555814702	chr3:112085052-112085053	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575676278	chr3:112085063-112085064	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116681631	chr3:112085066-112085067	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142953664	chr3:112085095-112085096	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs61314753	chr3:112085112-112085113	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs151117334	chr3:112085121-112085122	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540133776	chr3:112085212-112085213	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368246643	chr3:112085215-112085216	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12635015	chr3:112085233-112085234	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs573767906	chr3:112085286-112085287	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542486987	chr3:112085297-112085298	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562722835	chr3:112085318-112085319	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374887043	chr3:112085337-112085338	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs6807033	chr3:112085371-112085372	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs76787066	chr3:112085397-112085398	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140934238	chr3:112085450-112085451	Weak transcription Strong transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
34	rs6794784	chr3:112085536-112085537	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs567692082	chr3:112085556-112085557	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs564821311	chr3:112085569-112085570	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs145022779	chr3:112085572-112085573	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs190693199	chr3:112085590-112085591	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs34500295	chr3:112085645-112085646	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs62264139	chr3:112085681-112085682	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs79894290	chr3:112085682-112085683	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs536025522	chr3:112085693-112085694	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs549277804	chr3:112085714-112085715	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs562950666	chr3:112085773-112085774	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs537903601	chr3:112085789-112085790	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs555796202	chr3:112085799-112085800	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs557878225	chr3:112085859-112085860	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192871412	chr3:112085972-112085973	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112066000-112089800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:112069200-112095400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr3:112070200-112086200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:112070600-112086200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:112070600-112088800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:112070800-112084600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:112070800-112090600	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:112077200-112094200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr3:112077600-112107200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr3:112077800-112085400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:112077800-112085400	Weak transcription	Ovary	ovary
12	chr3:112078000-112085200	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:112078200-112086400	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr3:112079400-112085600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr3:112079400-112085800	Strong transcription	Primary hematopoietic stem cells	blood
16	chr3:112079400-112086200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:112079600-112085800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr3:112080000-112088800	Weak transcription	Colon Smooth Muscle	Colon
19	chr3:112080000-112096000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr3:112080600-112087400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr3:112081000-112085600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:112081000-112088800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr3:112081200-112085400	Weak transcription	Brain Angular Gyrus	brain
24	chr3:112081200-112085800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr3:112081200-112092800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:112081400-112085400	Weak transcription	Fetal Brain Male	brain
27	chr3:112081400-112088000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr3:112081400-112091600	Weak transcription	Primary T cells from cord blood	blood
29	chr3:112082200-112096000	Weak transcription	Fetal Stomach	stomach
30	chr3:112082400-112084600	Strong transcription	Brain Germinal Matrix	brain
31	chr3:112082600-112084600	Strong transcription	Fetal Muscle Leg	muscle
32	chr3:112082600-112094600	Weak transcription	Brain Anterior Caudate	brain
33	chr3:112082800-112084800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr3:112083000-112085600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:112083000-112085600	Enhancers	HMEC	breast
36	chr3:112083200-112084800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
37	chr3:112083200-112085000	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr3:112083200-112085800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr3:112083200-112086000	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr3:112083400-112085400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:112083400-112086200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr3:112083400-112092200	Weak transcription	Primary B cells from cord blood	blood
43	chr3:112083600-112084800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr3:112083600-112085000	Strong transcription	Thymus	Thymus
45	chr3:112083600-112085000	Enhancers	NHEK	skin
46	chr3:112083600-112085400	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr3:112083600-112085600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:112083600-112085800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr3:112083800-112084600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:112083800-112084800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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