Variant report

Variant	esv3365800
Chromosome Location	chr3:141050562-141054060
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:25)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:141044721..141047194-chr3:141049083..141050797,2	MCF-7	breast:
2	chr3:141052611..141055656-chr3:141065180..141068176,3	K562	blood:
3	chr3:141049236..141052063-chr3:141085767..141088852,6	K562	blood:
4	chr3:141030385..141032264-chr3:141049679..141051304,2	K562	blood:
5	chr3:141050917..141052882-chr3:141133782..141136338,2	K562	blood:
6	chr3:141043965..141046482-chr3:141049207..141051849,3	K562	blood:
7	chr3:141021600..141024263-chr3:141049784..141051636,2	MCF-7	breast:
8	chr3:141050331..141052397-chr3:141073866..141075575,2	K562	blood:
9	chr3:141051493..141053638-chr3:141053830..141056565,2	K562	blood:
10	chr3:141030424..141032274-chr3:141049079..141051494,2	MCF-7	breast:
11	chr3:141052203..141054827-chr3:141086733..141089265,2	K562	blood:
12	chr3:141047400..141052083-chr3:141058382..141063565,6	K562	blood:
13	chr3:141052611..141054382-chr3:141065464..141067942,2	K562	blood:
14	chr3:141049312..141052024-chr3:141065139..141067701,2	K562	blood:
15	chr3:141050875..141052406-chr3:141079993..141082555,2	MCF-7	breast:
16	chr3:141051493..141053770-chr3:141054601..141056565,2	K562	blood:
17	chr3:141048273..141051741-chr3:141060770..141063565,3	K562	blood:
18	chr3:141053417..141055018-chr3:141104331..141106494,2	MCF-7	breast:
19	chr3:141050275..141052450-chr3:141077492..141079872,2	MCF-7	breast:
20	chr3:141047658..141052071-chr3:141085661..141088836,5	K562	blood:
21	chr3:141040944..141042691-chr3:141048357..141050949,3	K562	blood:
22	chr3:141035261..141038228-chr3:141049872..141051864,2	MCF-7	breast:
23	chr3:141052445..141054291-chr3:141054574..141056796,2	MCF-7	breast:
24	chr3:141046937..141049134-chr3:141051333..141055060,4	K562	blood:
25	chr3:141051493..141053638-chr3:141053830..141056565,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACPL2-2	chr3:141053584-141054644	NONHSAT092426

No data

Variant related genes	Relation type
ENSG00000177311	chromatin interactions
ENSG00000249417	chromatin interactions

Extended variants
information (count: 135 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555589218	chr3:141050567-141050568	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs369531434	chr3:141050582-141050583	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs544831385	chr3:141050597-141050598	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs532837666	chr3:141050601-141050602	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs544817425	chr3:141050620-141050621	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs73869583	chr3:141050621-141050622	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs530669722	chr3:141050628-141050629	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs548759414	chr3:141050741-141050742	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs566923363	chr3:141050755-141050756	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs117365757	chr3:141050766-141050767	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs546508710	chr3:141050787-141050788	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs6765857	chr3:141050805-141050806	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs150703475	chr3:141050806-141050807	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs184080635	chr3:141050866-141050867	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs554187239	chr3:141050907-141050908	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs535887153	chr3:141050915-141050916	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs555054726	chr3:141050996-141050997	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs137889079	chr3:141051108-141051109	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs79531015	chr3:141051120-141051121	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs558968722	chr3:141051140-141051141	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs149465850	chr3:141051190-141051191	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs544567900	chr3:141051317-141051318	Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs563103962	chr3:141051321-141051322	Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs187334586	chr3:141051357-141051358	Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs575539586	chr3:141051375-141051376	Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs542731914	chr3:141051401-141051402	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs143937602	chr3:141051474-141051475	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs528159850	chr3:141051483-141051484	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs546220408	chr3:141051517-141051518	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs564536933	chr3:141051518-141051519	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs190850499	chr3:141051564-141051565	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs139874828	chr3:141051565-141051566	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs569037628	chr3:141051576-141051577	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs200213358	chr3:141051581-141051582	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs536025954	chr3:141051598-141051599	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs6793605	chr3:141051610-141051611	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs6793615	chr3:141051632-141051633	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs548389294	chr3:141051803-141051804	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs36079580	chr3:141051812-141051813	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs182116592	chr3:141051827-141051828	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs534283686	chr3:141051831-141051832	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs75964020	chr3:141051880-141051881	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs577121642	chr3:141051883-141051884	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs538531549	chr3:141051910-141051911	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs143335121	chr3:141051940-141051941	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs79600090	chr3:141051952-141051953	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs560421594	chr3:141051977-141051978	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs529401717	chr3:141051997-141051998	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs542095710	chr3:141052175-141052176	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs560293564	chr3:141052197-141052198	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
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
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
Lung cancer	16740712	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
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141045800-141051200	Weak transcription	Lung	lung
2	chr3:141046000-141053800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr3:141046200-141053400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:141046200-141055800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:141046400-141052400	Weak transcription	Pancreas	Pancrea
6	chr3:141046400-141055800	Genic enhancers	Fetal Intestine Small	intestine
7	chr3:141047000-141055800	Genic enhancers	Fetal Intestine Large	intestine
8	chr3:141047600-141054200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:141047800-141051200	Weak transcription	Colonic Mucosa	Colon
10	chr3:141047800-141051200	Weak transcription	Left Ventricle	heart
11	chr3:141048000-141051400	Weak transcription	Right Ventricle	heart
12	chr3:141049000-141052400	Enhancers	Duodenum Mucosa	Duodenum
13	chr3:141049000-141052600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:141049000-141052600	Enhancers	Small Intestine	intestine
15	chr3:141049000-141052800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:141049000-141053200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:141049000-141056600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:141049200-141052000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:141049200-141052800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr3:141049200-141055000	Enhancers	GM12878-XiMat	blood
21	chr3:141049200-141057000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:141049400-141052200	Enhancers	HUVEC	blood vessel
23	chr3:141049400-141053200	Enhancers	NH-A	brain
24	chr3:141049400-141053400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:141049400-141056800	Enhancers	NHLF	lung
26	chr3:141049600-141051400	Enhancers	Osteobl	bone
27	chr3:141049600-141051800	Enhancers	HSMMtube	muscle
28	chr3:141049600-141053200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr3:141049800-141050600	Enhancers	HepG2	liver
30	chr3:141050000-141050600	Enhancers	HSMM	muscle
31	chr3:141050000-141051000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:141050000-141052200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr3:141050000-141052400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr3:141050000-141053000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:141050200-141050600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr3:141050200-141050600	Flanking Active TSS	A549	lung
37	chr3:141050200-141050600	Flanking Active TSS	K562	blood
38	chr3:141050200-141050600	Flanking Active TSS	NHDF-Ad	bronchial
39	chr3:141050200-141050800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:141050200-141051000	Enhancers	NHEK	skin
41	chr3:141050200-141051200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:141050200-141051200	Enhancers	HMEC	breast
43	chr3:141050200-141051600	Enhancers	Placenta Amnion	Placenta Amnion
44	chr3:141050200-141052000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:141050200-141052000	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr3:141050200-141052200	Enhancers	Right Atrium	heart
47	chr3:141050200-141052200	Flanking Active TSS	Hela-S3	cervix
48	chr3:141050200-141052400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr3:141050200-141052600	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr3:141050200-141053000	Enhancers	Rectal Mucosa Donor 29	rectum

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