Variant report

Variant	esv1843717
Chromosome Location	chr3:102251299-102364297
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:101954335..101955564-chr3:102255069..102255925,6	MCF-7	breast:
2	chr3:101954246..101955257-chr3:102255026..102256618,7	MCF-7	breast:
3	chr3:101947609..101948580-chr3:102255071..102256044,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPL24-5	chr3:102298795-102299045	expReg_chr3_7266_-

Extended variants
information (count: 2110 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2110 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9852920	chr3:102251299-102251300	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181775470	chr3:102251315-102251316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576095556	chr3:102251372-102251373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537132095	chr3:102251429-102251430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558291977	chr3:102251441-102251442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187376494	chr3:102251447-102251448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562378646	chr3:102251450-102251451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138972281	chr3:102251488-102251489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191754860	chr3:102251530-102251531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575206727	chr3:102251532-102251533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183604372	chr3:102251536-102251537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554478221	chr3:102251542-102251543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563892038	chr3:102251577-102251578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1151332	chr3:102251580-102251581	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs546248901	chr3:102251605-102251606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564209567	chr3:102251632-102251633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115913176	chr3:102251644-102251645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575315751	chr3:102251649-102251650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs16845092	chr3:102251650-102251651	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs78304418	chr3:102251691-102251692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188100763	chr3:102251713-102251714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191318216	chr3:102251719-102251720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548116659	chr3:102251721-102251722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138535253	chr3:102251731-102251732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536764625	chr3:102251749-102251750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558583469	chr3:102251769-102251770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558710346	chr3:102251771-102251772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576875755	chr3:102251779-102251780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570468868	chr3:102251788-102251789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77943703	chr3:102251874-102251875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552995451	chr3:102251882-102251883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182263156	chr3:102251891-102251892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79770714	chr3:102251955-102251956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186515941	chr3:102252030-102252031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367669175	chr3:102252063-102252064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191259587	chr3:102252082-102252083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564558216	chr3:102252098-102252099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528558988	chr3:102252108-102252109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540269794	chr3:102252115-102252116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148522716	chr3:102252144-102252145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370325803	chr3:102252147-102252148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529747300	chr3:102252180-102252181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561729118	chr3:102252184-102252185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372772077	chr3:102252188-102252189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548432699	chr3:102252190-102252191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141606007	chr3:102252196-102252197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530686793	chr3:102252283-102252284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112910232	chr3:102252288-102252289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184833405	chr3:102252329-102252330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570601622	chr3:102252339-102252340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	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
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:102244400-102255200	Weak transcription	Stomach Mucosa	stomach
2	chr3:102249000-102253000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:102249800-102251600	Weak transcription	Small Intestine	intestine
4	chr3:102249800-102251600	Enhancers	Hela-S3	cervix
5	chr3:102250200-102251400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr3:102251200-102251600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr3:102251200-102252600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:102251400-102251800	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr3:102251400-102252400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:102251400-102252600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr3:102251400-102253000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:102251600-102251800	Enhancers	Primary B cells from peripheral blood	blood
13	chr3:102251600-102251800	Enhancers	Small Intestine	intestine
14	chr3:102251600-102252000	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr3:102251600-102252000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr3:102251600-102252200	Enhancers	Primary hematopoietic stem cells	blood
17	chr3:102251600-102252200	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr3:102251600-102252600	Enhancers	Aorta	Aorta
19	chr3:102251600-102254200	Weak transcription	Hela-S3	cervix
20	chr3:102251800-102252000	Enhancers	GM12878-XiMat	blood
21	chr3:102252600-102252800	Enhancers	GM12878-XiMat	blood
22	chr3:102252800-102253200	Enhancers	Primary B cells from peripheral blood	blood
23	chr3:102253000-102255000	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr3:102254200-102256200	Enhancers	Hela-S3	cervix
25	chr3:102255000-102255200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr3:102255000-102255400	Enhancers	Fetal Brain Male	brain
27	chr3:102255200-102255400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:102255200-102255400	Enhancers	Fetal Lung	lung
29	chr3:102255200-102255800	Enhancers	Stomach Mucosa	stomach
30	chr3:102255200-102256200	Enhancers	Liver	Liver
31	chr3:102255200-102256200	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr3:102255400-102255600	Active TSS	Brain Angular Gyrus	brain
33	chr3:102255400-102255600	Active TSS	Ovary	ovary
34	chr3:102255600-102255800	Flanking Active TSS	Brain Angular Gyrus	brain
35	chr3:102255600-102255800	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr3:102255600-102255800	Enhancers	Brain Hippocampus Middle	brain
37	chr3:102255600-102255800	Flanking Active TSS	Ovary	ovary
38	chr3:102255600-102255800	Enhancers	HMEC	breast
39	chr3:102255600-102256200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr3:102256000-102256200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:102261400-102262200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:102261800-102262200	Enhancers	Fetal Kidney	kidney
43	chr3:102262200-102264600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:102264600-102266000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:102264800-102265200	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr3:102265400-102265800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:102283400-102283800	Enhancers	Adipose Nuclei	Adipose
48	chr3:102285400-102287800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr3:102288200-102291400	Enhancers	Liver	Liver
50	chr3:102288400-102288800	Enhancers	Pancreas	Pancrea

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