Variant report

Variant	esv1843227
Chromosome Location	chr4:100021476-100024396
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:4)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:100010297..100012013-chr4:100018638..100021523,2	K562	blood:
2	chr4:100008526..100011791-chr4:100020409..100023760,5	MCF-7	breast:
3	chr4:99915817..99917521-chr4:100020700..100022232,2	MCF-7	breast:
4	chr4:100008642..100013321-chr4:100020625..100023682,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-METAP1-3	chr4:100023919-100023944	NONHSAT097519
2	lnc-METAP1-3	chr4:100023919-100023944	ENSG00000246090
3	lnc-METAP1-3	chr4:100023514-100023816	ENSG00000246090
4	lnc-METAP1-3	chr4:100023514-100023816	NONHSAT097519

No data

Variant related genes	Relation type
ENSG00000197894	chromatin interactions
ENSG00000246090	chromatin interactions
ENSG00000164024	chromatin interactions

Extended variants
information (count: 111 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369822754	chr4:100021488-100021489	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs187228899	chr4:100021503-100021504	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs562745346	chr4:100021559-100021560	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs529728623	chr4:100021626-100021627	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs541556019	chr4:100021632-100021633	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs148803904	chr4:100021650-100021651	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs531253258	chr4:100021656-100021657	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs549342886	chr4:100021660-100021661	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs190901512	chr4:100021736-100021737	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs552404857	chr4:100021753-100021754	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs1377689	chr4:100021787-100021788	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs532070699	chr4:100021791-100021792	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs116283650	chr4:100021797-100021798	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs560851154	chr4:100021798-100021799	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs34346084	chr4:100021829-100021830	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs568665847	chr4:100021848-100021849	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs142380198	chr4:100021853-100021854	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs35195995	chr4:100021861-100021862	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs554323993	chr4:100021862-100021863	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs62323588	chr4:100021871-100021872	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs566215359	chr4:100021927-100021928	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs536355043	chr4:100021944-100021945	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs183429256	chr4:100021946-100021947	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs558180133	chr4:100021952-100021953	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs552177955	chr4:100021963-100021964	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs187707752	chr4:100021983-100021984	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs562568368	chr4:100021999-100022000	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs111788009	chr4:100022034-100022035	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs112186421	chr4:100022071-100022072	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs531579865	chr4:100022072-100022073	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs377153396	chr4:100022087-100022088	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs556066095	chr4:100022108-100022109	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs574316131	chr4:100022110-100022111	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs541482020	chr4:100022112-100022113	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs559816585	chr4:100022169-100022170	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs7699783	chr4:100022242-100022243	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs370625848	chr4:100022258-100022259	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs4396997	chr4:100022263-100022264	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs545470179	chr4:100022273-100022274	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs564142432	chr4:100022288-100022289	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs199574925	chr4:100022332-100022333	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs200214733	chr4:100022341-100022342	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs531888898	chr4:100022382-100022383	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs568389213	chr4:100022434-100022435	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs1453872	chr4:100022482-100022483	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs1453873	chr4:100022571-100022572	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs529520694	chr4:100022594-100022595	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs547866442	chr4:100022596-100022597	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs566175417	chr4:100022622-100022623	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs1453874	chr4:100022724-100022725	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:83)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100011400-100025800	Weak transcription	Esophagus	oesophagus
2	chr4:100011600-100025600	Weak transcription	Primary T cells from cord blood	blood
3	chr4:100012800-100063800	Weak transcription	Aorta	Aorta
4	chr4:100014000-100022000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:100014400-100024000	Weak transcription	HMEC	breast
6	chr4:100020400-100024400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr4:100020600-100021800	Enhancers	Placenta	Placenta
8	chr4:100020600-100022200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr4:100020600-100034800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr4:100020800-100022200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:100020800-100022800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr4:100020800-100032800	Weak transcription	Fetal Intestine Small	intestine
13	chr4:100020800-100038600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr4:100021000-100022000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:100021000-100023600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:100021000-100032200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:100021000-100041200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:100021200-100021600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:100021400-100021600	Enhancers	Small Intestine	intestine
20	chr4:100021400-100022200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:100021400-100022200	Enhancers	HSMMtube	muscle
22	chr4:100021400-100022200	Enhancers	Osteobl	bone
23	chr4:100021400-100022400	Enhancers	K562	blood
24	chr4:100021400-100022600	Enhancers	Adipose Nuclei	Adipose
25	chr4:100021400-100022800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:100021400-100023000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:100021400-100025200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr4:100021600-100022800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:100021600-100024400	Weak transcription	Small Intestine	intestine
30	chr4:100021800-100022400	Weak transcription	Placenta	Placenta
31	chr4:100022000-100022600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:100022000-100023000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:100022200-100024000	Weak transcription	Osteobl	bone
34	chr4:100022200-100024200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:100022200-100024600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:100022200-100025400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr4:100022400-100022600	Enhancers	Placenta	Placenta
38	chr4:100022600-100023600	Weak transcription	Placenta	Placenta
39	chr4:100022600-100024800	Weak transcription	Adipose Nuclei	Adipose
40	chr4:100022600-100025000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:100022800-100023800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:100022800-100024000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:100022800-100024000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr4:100023000-100055600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:100023800-100025800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:100024000-100024200	Enhancers	HMEC	breast
47	chr4:100024000-100025800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:100024000-100025800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:100024200-100025000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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