Variant report

Variant	esv3410778
Chromosome Location	chr3:146017303-146060390
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:145783038..145783586-chr3:146044661..146045578,2	MCF-7	breast:
2	chr3:146017468..146019765-chr3:146026465..146028948,2	MCF-7	breast:
3	chr3:146048795..146051583-chr3:146054776..146056566,2	MCF-7	breast:
4	chr3:146053792..146056507-chr3:146270955..146273271,2	K562	blood:
5	chr3:145938654..145939295-chr3:146044870..146045659,2	MCF-7	breast:
6	chr3:145938109..145938869-chr3:146044708..146045495,2	MCF-7	breast:
7	chr3:145937350..145938198-chr3:146044684..146045576,2	K562	blood:
8	chr3:146051922..146052597-chr3:146295303..146296107,2	MCF-7	breast:
9	chr3:145936462..145937370-chr3:146044619..146045821,9	MCF-7	breast:
10	chr3:145936384..145937370-chr3:146044670..146045567,4	MCF-7	breast:
11	chr3:146044568..146045746-chr3:146099870..146100750,3	MCF-7	breast:
12	chr3:145907332..145908011-chr3:146044703..146045227,2	K562	blood:
13	chr20:56268200..56270406-chr3:146031191..146033715,2	MCF-7	breast:
14	chr3:146051931..146052494-chr3:146139879..146140654,2	MCF-7	breast:
15	chr3:146044616..146045587-chr3:146295200..146296047,4	MCF-7	breast:
16	chr3:146017468..146019765-chr3:146026465..146028948,2	MCF-7	breast:
17	chr3:146048795..146051583-chr3:146054776..146056566,2	MCF-7	breast:
18	chr3:145940299..145941372-chr3:146044662..146045624,8	MCF-7	breast:
19	chr3:146051675..146052565-chr3:146295209..146295722,2	MCF-7	breast:

No data

Extended variants
information (count: 1471 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1471 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113727554	chr3:146017316-146017317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78606956	chr3:146017322-146017323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187852957	chr3:146017414-146017415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144679673	chr3:146017468-146017469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565584481	chr3:146017504-146017505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562368146	chr3:146017569-146017570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552404790	chr3:146017572-146017573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534769805	chr3:146017732-146017733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546381209	chr3:146017777-146017778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571368347	chr3:146017853-146017854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538349575	chr3:146017871-146017872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113285257	chr3:146017892-146017893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34453525	chr3:146018005-146018006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529590039	chr3:146018011-146018012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1512892	chr3:146018012-146018013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556954473	chr3:146018016-146018017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373269554	chr3:146018041-146018042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547956875	chr3:146018047-146018048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs66810063	chr3:146018058-146018059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs559242437	chr3:146018107-146018108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145538262	chr3:146018115-146018116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533595474	chr3:146018194-146018195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573897675	chr3:146018214-146018215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541654486	chr3:146018228-146018229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192011620	chr3:146018293-146018294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578073680	chr3:146018358-146018359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545149618	chr3:146018382-146018383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372156646	chr3:146018387-146018388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148821751	chr3:146018401-146018402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71300396	chr3:146018420-146018421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs143464354	chr3:146018428-146018429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568044176	chr3:146018432-146018433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535574042	chr3:146018445-146018446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112264210	chr3:146018452-146018453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549309432	chr3:146018503-146018504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561121648	chr3:146018571-146018572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535797121	chr3:146018808-146018809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184464260	chr3:146018809-146018810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567655776	chr3:146018816-146018817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147566537	chr3:146023242-146023243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6807460	chr3:146023271-146023272	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs374542448	chr3:146023273-146023274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142223382	chr3:146023330-146023331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564362875	chr3:146023348-146023349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6771797	chr3:146023407-146023408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543521568	chr3:146023414-146023415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112715837	chr3:146023415-146023416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114370857	chr3:146023492-146023493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146148997	chr3:146023532-146023533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559464102	chr3:146023604-146023605	Enhancers	n/a	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
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
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:218 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146016400-146017800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:146016400-146017800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:146016600-146017400	Enhancers	Fetal Lung	lung
4	chr3:146016600-146017600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr3:146016600-146017600	Enhancers	Fetal Stomach	stomach
6	chr3:146016800-146017600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:146016800-146017600	Enhancers	NHEK	skin
8	chr3:146017000-146017600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:146017400-146017600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:146017600-146018600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:146018800-146019000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr3:146023200-146025800	Enhancers	Fetal Intestine Large	intestine
13	chr3:146023800-146024600	ZNF genes & repeats	Fetal Intestine Small	intestine
14	chr3:146024000-146028000	Enhancers	Fetal Lung	lung
15	chr3:146024200-146024400	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr3:146024400-146024600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr3:146024400-146024800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:146024400-146026200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:146024600-146025200	Weak transcription	Fetal Intestine Small	intestine
20	chr3:146024800-146025000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:146024800-146025400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr3:146024800-146025800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:146025000-146025400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:146025000-146026200	Enhancers	HUVEC	blood vessel
25	chr3:146025200-146025800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:146025200-146025800	Enhancers	Fetal Stomach	stomach
27	chr3:146025200-146026000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr3:146025200-146026200	Enhancers	Osteobl	bone
29	chr3:146025200-146027000	Enhancers	Fetal Intestine Small	intestine
30	chr3:146025400-146025600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr3:146025400-146025600	Enhancers	HSMMtube	muscle
32	chr3:146025400-146025800	Enhancers	Colon Smooth Muscle	Colon
33	chr3:146025400-146025800	Enhancers	Ovary	ovary
34	chr3:146025400-146025800	Enhancers	NHDF-Ad	bronchial
35	chr3:146025400-146025800	Enhancers	NHLF	lung
36	chr3:146025400-146026200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr3:146025400-146026200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:146025400-146026400	Enhancers	Hela-S3	cervix
39	chr3:146025600-146026200	Weak transcription	HSMMtube	muscle
40	chr3:146025600-146026400	Enhancers	Liver	Liver
41	chr3:146025600-146026400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr3:146025600-146027000	Enhancers	Adipose Nuclei	Adipose
43	chr3:146025800-146026200	Weak transcription	Fetal Intestine Large	intestine
44	chr3:146025800-146026200	Weak transcription	Ovary	ovary
45	chr3:146025800-146026200	Weak transcription	NHDF-Ad	bronchial
46	chr3:146025800-146026200	Weak transcription	NHLF	lung
47	chr3:146025800-146026400	Weak transcription	Fetal Stomach	stomach
48	chr3:146025800-146026600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:146025800-146026600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr3:146025800-146026600	Enhancers	NH-A	brain

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