Variant report

Variant	esv2755046
Chromosome Location	chr3:115818840-115942952
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:12)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:115844845..115847305-chr3:115848813..115850468,2	K562	blood:
2	chr3:115890950..115893420-chr3:115897517..115899878,2	K562	blood:
3	chr3:115862450..115863088-chr7:54350364..54350864,2	MCF-7	breast:
4	chr3:115858744..115859345-chr3:117437910..117438488,2	MCF-7	breast:
5	chr3:115858909..115859556-chr3:116235958..116236759,2	MCF-7	breast:
6	chr3:115844845..115847305-chr3:115848813..115850468,2	K562	blood:
7	chr3:115892441..115895134-chr9:128466129..128468903,2	MCF-7	breast:
8	chr2:49425509..49426338-chr3:115937869..115938784,2	MCF-7	breast:
9	chr3:115858694..115859203-chr3:116105156..116105712,2	MCF-7	breast:
10	chr3:115838925..115841642-chr3:115843217..115845978,2	MCF-7	breast:
11	chr3:115890950..115893420-chr3:115897517..115899878,2	K562	blood:
12	chr3:115838925..115841642-chr3:115843217..115845978,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GAP43-12	chr3:115917729-115917998	uc_120_+
2	lnc-ZBTB20-4	chr3:115917729-115917998	uc_120_-
3	lnc-GAP43-11	chr3:115916157-115916457	uc_119_+
4	lnc-ZBTB20-3	chr3:115916157-115916457	uc_119_-

No data

Extended variants
information (count: 4151 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:4151 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1920379	chr3:115818840-115818841	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs9846439	chr3:115818859-115818860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139926789	chr3:115818897-115818898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528171225	chr3:115818906-115818907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs5004406	chr3:115818924-115818925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs111539147	chr3:115818930-115818931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7636159	chr3:115818939-115818940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377315774	chr3:115818985-115818986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541263893	chr3:115819041-115819042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553585903	chr3:115819043-115819044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556938491	chr3:115819051-115819052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9866484	chr3:115819053-115819054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs373408091	chr3:115819091-115819092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78752225	chr3:115819104-115819105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555196064	chr3:115819117-115819118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573504827	chr3:115819128-115819129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191462553	chr3:115819206-115819207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146765067	chr3:115819207-115819208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561864846	chr3:115819295-115819296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112140124	chr3:115819358-115819359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17697881	chr3:115819376-115819377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148902233	chr3:115819377-115819378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562550384	chr3:115819388-115819389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143467461	chr3:115819428-115819429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150934402	chr3:115819430-115819431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569505171	chr3:115819443-115819444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183081259	chr3:115819445-115819446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528309653	chr3:115819459-115819460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187732067	chr3:115819460-115819461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546789283	chr3:115819477-115819478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564803254	chr3:115819490-115819491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532239712	chr3:115819503-115819504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11914439	chr3:115819508-115819509	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs34591870	chr3:115819523-115819524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1920377	chr3:115819524-115819525	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs140659723	chr3:115819530-115819531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145894240	chr3:115819538-115819539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545833141	chr3:115819541-115819542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533138528	chr3:115819561-115819562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564061711	chr3:115819576-115819577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192534504	chr3:115819612-115819613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572768953	chr3:115819618-115819619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138705252	chr3:115819638-115819639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538374955	chr3:115819645-115819646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556137890	chr3:115819757-115819758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540072621	chr3:115819763-115819764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183595233	chr3:115819782-115819783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542498144	chr3:115819789-115819790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77051652	chr3:115819804-115819805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549315462	chr3:115819864-115819865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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	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
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Ovarian cancer	22174824	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
Characteristic facial feature	22180640	CNVD
hypoplastic male genitals	22180640	CNVD
postnatal overgrowth	22180640	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:666 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115780400-115830000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:115801200-115821400	Weak transcription	Fetal Lung	lung
3	chr3:115804600-115821200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:115810800-115823000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr3:115811000-115821000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr3:115816200-115823000	Weak transcription	Colon Smooth Muscle	Colon
7	chr3:115818000-115822400	Weak transcription	Brain Anterior Caudate	brain
8	chr3:115819400-115819800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:115819800-115822400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:115821000-115821600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr3:115821000-115821800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr3:115821200-115821400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:115821200-115821400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr3:115821200-115821600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr3:115821400-115821600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:115821400-115821600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr3:115821400-115821600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:115821400-115821600	Enhancers	Fetal Lung	lung
19	chr3:115821400-115821800	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr3:115821400-115822800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr3:115821600-115822800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:115821600-115823000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:115821600-115823000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr3:115821600-115824000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:115821800-115822800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr3:115821800-115823000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr3:115821800-115823200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr3:115822000-115822200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr3:115822000-115822200	Enhancers	Brain Angular Gyrus	brain
30	chr3:115822000-115822600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:115822000-115823200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:115822200-115822600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:115822400-115822600	Enhancers	NH-A	brain
34	chr3:115822400-115823600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr3:115822400-115823600	Weak transcription	Brain Angular Gyrus	brain
36	chr3:115822400-115824400	Enhancers	Brain Anterior Caudate	brain
37	chr3:115822600-115822800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr3:115822600-115827400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr3:115822800-115823000	Enhancers	Brain Hippocampus Middle	brain
40	chr3:115822800-115823000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr3:115822800-115823200	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr3:115822800-115823200	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr3:115822800-115823800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr3:115822800-115824000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr3:115822800-115824200	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr3:115822800-115824400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr3:115823000-115823200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:115823000-115823200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr3:115823000-115823200	Enhancers	Colon Smooth Muscle	Colon
50	chr3:115823000-115823600	Weak transcription	Brain Hippocampus Middle	brain

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