Variant report

Variant	esv3413841
Chromosome Location	chr3:133542762-133545960
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:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:133540918..133542812-chr3:133549645..133551842,2	MCF-7	breast:
2	chr3:133543993..133545850-chr3:133548692..133550579,2	MCF-7	breast:
3	chr3:133544073..133548736-chr3:133549293..133553405,5	K562	blood:
4	chr3:133539699..133541216-chr3:133545754..133547424,2	K562	blood:
5	chr3:133380579..133382285-chr3:133542068..133543624,2	MCF-7	breast:
6	chr3:133538391..133540187-chr3:133540982..133543508,2	K562	blood:
7	chr3:133543192..133545782-chr3:133562940..133564670,2	MCF-7	breast:
8	chr3:133354066..133356329-chr3:133540226..133542880,2	MCF-7	breast:
9	chr3:133536504..133538338-chr3:133544056..133545564,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRPRB-1	chr3:133543100-133546531	NONHSAT092207

No data

Variant related genes	Relation type
ENSG00000163781	chromatin interactions
ENSG00000242337	chromatin interactions

Extended variants
information (count: 133 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140930335	chr3:133542784-133542785	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs150231161	chr3:133542798-133542799	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs556584256	chr3:133542855-133542856	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs576290406	chr3:133542859-133542860	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs549766231	chr3:133542872-133542873	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs116492412	chr3:133542879-133542880	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs73217237	chr3:133542901-133542902	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs532895681	chr3:133542902-133542903	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs16841004	chr3:133542969-133542970	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs56319992	chr3:133542994-133542995	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs529081471	chr3:133542998-133542999	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs374705255	chr3:133543003-133543004	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs569094614	chr3:133543035-133543036	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs368004495	chr3:133543052-133543053	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs183164063	chr3:133543173-133543174	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs60912492	chr3:133543242-133543243	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs373331036	chr3:133543245-133543246	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs531635539	chr3:133543282-133543283	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs537993788	chr3:133543283-133543284	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs372219760	chr3:133543284-133543285	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs76485805	chr3:133543368-133543369	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs115525603	chr3:133543374-133543375	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs571653470	chr3:133543390-133543391	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs374584966	chr3:133543398-133543399	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs534150145	chr3:133543433-133543434	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs188045253	chr3:133543438-133543439	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs575165400	chr3:133543457-133543458	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs368203520	chr3:133543458-133543459	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs572581356	chr3:133543517-133543518	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs370713965	chr3:133543518-133543519	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
31	rs567708575	chr3:133543531-133543532	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs557502012	chr3:133543552-133543553	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs536456655	chr3:133543616-133543617	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs556709644	chr3:133543634-133543635	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs576353975	chr3:133543643-133543644	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs545279338	chr3:133543654-133543655	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs558680368	chr3:133543663-133543664	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs374904144	chr3:133543695-133543696	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs558789042	chr3:133543711-133543712	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs577237915	chr3:133543719-133543720	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs577215707	chr3:133543753-133543754	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs540178990	chr3:133543761-133543762	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs374413658	chr3:133543820-133543821	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs369614510	chr3:133543825-133543826	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs536007146	chr3:133543830-133543831	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs577456462	chr3:133543838-133543839	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs75876017	chr3:133543852-133543853	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs138782778	chr3:133543870-133543871	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs149306628	chr3:133543884-133543885	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs189690332	chr3:133543887-133543888	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Hailey-hailey disease	17597066	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133526200-133543400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr3:133526400-133543800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr3:133526400-133544000	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr3:133526400-133544000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr3:133526600-133543400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:133526600-133544800	Strong transcription	Primary B cells from peripheral blood	blood
7	chr3:133526600-133544800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr3:133526800-133544000	Strong transcription	Liver	Liver
9	chr3:133526800-133544800	Strong transcription	Duodenum Mucosa	Duodenum
10	chr3:133527000-133545000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:133527200-133545000	Strong transcription	Dnd41	blood
12	chr3:133528000-133543400	Strong transcription	Fetal Thymus	thymus
13	chr3:133529200-133545200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr3:133533600-133543000	Strong transcription	Fetal Lung	lung
15	chr3:133533600-133543400	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr3:133533600-133543600	Strong transcription	Fetal Intestine Large	intestine
17	chr3:133533600-133545000	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr3:133533600-133546200	Strong transcription	Stomach Smooth Muscle	stomach
19	chr3:133533800-133543200	Strong transcription	K562	blood
20	chr3:133534000-133543000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr3:133536400-133543600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:133537400-133545600	Strong transcription	Fetal Muscle Leg	muscle
23	chr3:133537800-133544800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:133538000-133543800	Strong transcription	Fetal Muscle Trunk	muscle
25	chr3:133538000-133544800	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr3:133538200-133542800	Strong transcription	GM12878-XiMat	blood
27	chr3:133538200-133543800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
28	chr3:133538200-133544000	Strong transcription	Lung	lung
29	chr3:133538200-133544200	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr3:133538200-133544400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:133538200-133544600	Strong transcription	Primary hematopoietic stem cells	blood
32	chr3:133538200-133544600	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr3:133538200-133544600	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr3:133538400-133542800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:133538400-133543400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:133538400-133543600	Strong transcription	Thymus	Thymus
37	chr3:133538400-133543800	Strong transcription	Placenta	Placenta
38	chr3:133538400-133544000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr3:133538400-133544000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr3:133538400-133544000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr3:133538400-133544000	Strong transcription	Colonic Mucosa	Colon
42	chr3:133538400-133544000	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr3:133538400-133544200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr3:133538400-133544200	Strong transcription	Aorta	Aorta
45	chr3:133538400-133544800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr3:133538400-133544800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr3:133538400-133544800	Strong transcription	Ovary	ovary
48	chr3:133538400-133545000	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr3:133538400-133545000	Strong transcription	Spleen	Spleen
50	chr3:133538400-133545600	Strong transcription	Primary B cells from cord blood	blood

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