Variant report

Variant	nsv877341
Chromosome Location	chr3:112079277-112125521
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:3)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:112090607..112092226-chr3:112097134..112099677,2	MCF-7	breast:
2	chr3:111832694..111835578-chr3:112096846..112099201,2	MCF-7	breast:
3	chr3:112090607..112092226-chr3:112097134..112099677,2	MCF-7	breast:

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTLA-1	chr3:112085429-112085505	NONHSAT091169
2	lnc-BTLA-1	chr3:112085429-112085505	NONHSAT091172
3	lnc-BTLA-1	chr3:112123200-112123225	NONHSAT091170
4	lnc-BTLA-1	chr3:112085429-112085505	NONHSAT091170
5	lnc-SLC9A10-1	chr3:112082053-112082403	NONHSAT091175
6	lnc-BTLA-1	chr3:112100753-112100776	NONHSAT091168
7	lnc-BTLA-1	chr3:112099250-112099448	NONHSAT091168
8	lnc-BTLA-1	chr3:112085429-112085505	NONHSAT091167
9	lnc-BTLA-1	chr3:112080890-112081049	NONHSAT091168
10	lnc-BTLA-1	chr3:112085429-112085505	NONHSAT091173
11	lnc-BTLA-1	chr3:112099250-112099448	NONHSAT091174
12	lnc-BTLA-1	chr3:112085429-112085505	NONHSAT091174
13	lnc-BTLA-1	chr3:112100753-112100776	NONHSAT091176
14	lnc-BTLA-1	chr3:112100753-112100780	NONHSAT091174
15	lnc-BTLA-1	chr3:112080870-112081049	NONHSAT091174
16	lnc-BTLA-1	chr3:112080890-112081049	NONHSAT091167
17	lnc-BTLA-1	chr3:112115494-112116995	ENSG00000243081
18	lnc-BTLA-1	chr3:112099217-112099448	NONHSAT091176
19	lnc-BTLA-1	chr3:112080427-112081049	NONHSAT091173
20	lnc-BTLA-1	chr3:112085429-112085505	NONHSAT091168
21	lnc-BTLA-1	chr3:112080890-112081510	NONHSAT091166
22	lnc-BTLA-1	chr3:112099250-112099670	NONHSAT091173
23	lnc-BTLA-1	chr3:112099250-112099448	NONHSAT091172

No data

Extended variants
information (count: 1674 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1674 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9867544	chr3:112079277-112079278	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560526369	chr3:112079297-112079298	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs536699894	chr3:112079316-112079317	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs146029485	chr3:112079368-112079369	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs367777609	chr3:112079382-112079383	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs556288653	chr3:112079407-112079408	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs200513595	chr3:112079416-112079417	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs549416819	chr3:112079427-112079428	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs569432579	chr3:112079431-112079432	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs538096818	chr3:112079467-112079468	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs371760138	chr3:112079493-112079494	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs577745386	chr3:112079502-112079503	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs534052474	chr3:112079552-112079553	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs116262951	chr3:112079624-112079625	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs573708471	chr3:112079630-112079631	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs139992057	chr3:112079660-112079661	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs193158730	chr3:112079718-112079719	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs576173906	chr3:112079740-112079741	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs377308711	chr3:112079753-112079754	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs544907147	chr3:112079755-112079756	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs56037521	chr3:112079780-112079781	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs75344103	chr3:112079797-112079798	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs547530171	chr3:112079802-112079803	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs560821992	chr3:112079834-112079835	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs149662064	chr3:112079835-112079836	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs540735548	chr3:112079869-112079870	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs549642455	chr3:112079870-112079871	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs569484399	chr3:112079904-112079905	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs538415203	chr3:112079960-112079961	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs551658015	chr3:112079967-112079968	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs571524439	chr3:112079996-112079997	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs533990030	chr3:112080028-112080029	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs553849585	chr3:112080031-112080032	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs11301407	chr3:112080050-112080051	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs573692094	chr3:112080068-112080069	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs71315900	chr3:112080075-112080076	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs570734102	chr3:112080076-112080077	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs536288228	chr3:112080090-112080091	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs556404779	chr3:112080109-112080110	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs34791255	chr3:112080123-112080124	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs372581608	chr3:112080124-112080125	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs113982928	chr3:112080139-112080140	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs576285565	chr3:112080140-112080141	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs2895396	chr3:112080142-112080143	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs187239545	chr3:112080158-112080159	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs113371607	chr3:112080161-112080162	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs115758359	chr3:112080201-112080202	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs72952426	chr3:112080215-112080216	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs191377465	chr3:112080222-112080223	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201856511	chr3:112080290-112080291	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1148 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112054800-112083000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:112055600-112080200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:112061200-112083000	Weak transcription	Colonic Mucosa	Colon
4	chr3:112062400-112083000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:112065600-112079600	Weak transcription	Fetal Intestine Large	intestine
6	chr3:112066000-112089800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:112067000-112079400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr3:112067200-112079800	Weak transcription	Fetal Stomach	stomach
9	chr3:112067200-112080400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr3:112069200-112084000	Weak transcription	Fetal Kidney	kidney
11	chr3:112069200-112095400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr3:112070200-112086200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr3:112070600-112080400	Weak transcription	Brain Angular Gyrus	brain
14	chr3:112070600-112080400	Weak transcription	Brain Anterior Caudate	brain
15	chr3:112070600-112086200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr3:112070600-112088800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr3:112070800-112079600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:112070800-112084600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:112070800-112090600	Weak transcription	Brain Hippocampus Middle	brain
20	chr3:112071000-112083000	Weak transcription	Brain Substantia Nigra	brain
21	chr3:112071200-112083800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr3:112071800-112079400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:112072000-112080600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:112072400-112080400	Weak transcription	Fetal Brain Male	brain
25	chr3:112073000-112080400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr3:112073400-112079600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr3:112074200-112079600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:112077000-112079400	Weak transcription	Fetal Thymus	thymus
29	chr3:112077000-112079600	Weak transcription	Fetal Lung	lung
30	chr3:112077000-112083000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr3:112077200-112079400	Weak transcription	Brain Germinal Matrix	brain
32	chr3:112077200-112079600	Weak transcription	Thymus	Thymus
33	chr3:112077200-112081200	Active TSS	Right Atrium	heart
34	chr3:112077200-112082000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr3:112077200-112094200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr3:112077400-112079600	Weak transcription	Fetal Brain Female	brain
37	chr3:112077600-112079400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr3:112077600-112079400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:112077600-112079600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr3:112077600-112079600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr3:112077600-112079800	Weak transcription	Left Ventricle	heart
42	chr3:112077600-112080400	Active TSS	Fetal Muscle Leg	muscle
43	chr3:112077600-112080400	Weak transcription	Psoas Muscle	Psoas
44	chr3:112077600-112080600	Weak transcription	Primary T cells from cord blood	blood
45	chr3:112077600-112082800	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr3:112077600-112083000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr3:112077600-112107200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr3:112077800-112079400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr3:112077800-112079600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:112077800-112079800	Weak transcription	Primary B cells from cord blood	blood

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