Variant report

Variant	esv3496593
Chromosome Location	chr4:124582304-124586904
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:9)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:124048111..124048748-chr4:124582168..124582901,2	MCF-7	breast:
2	chr4:124317878..124321716-chr4:124581134..124584700,4	MCF-7	breast:
3	chr4:124485658..124486578-chr4:124582431..124582959,2	K562	blood:
4	chr4:124048090..124049080-chr4:124581973..124582933,2	K562	blood:
5	chr4:124582206..124582930-chr4:125183080..125184000,2	MCF-7	breast:
6	chr4:124312099..124312874-chr4:124581927..124582437,2	MCF-7	breast:
7	chr4:124319981..124321573-chr4:124580466..124582446,2	MCF-7	breast:
8	chr4:124584154..124586562-chr4:124589727..124591476,2	K562	blood:
9	chr4:124485623..124486524-chr4:124581998..124582924,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPRY1-2	chr4:124582908-124582988	NONHSAT098199
2	lnc-SPRY1-2	chr4:124582908-124587987	ENSG00000249464
3	lnc-SPRY1-2	chr4:124582908-124582988	NONHSAT098195
4	lnc-SPRY1-2	chr4:124582908-124582988	ENSG00000249464
5	lnc-SPRY1-2	chr4:124582908-124582990	NONHSAT098194
6	lnc-SPRY1-2	chr4:124582908-124589223	NONHSAT098196
7	lnc-SPRY1-2	chr4:124582908-124582988	ENSG00000249464

No data

Variant related genes	Relation type
ENSG00000164056	chromatin interactions
DAND5	miRNA target sites
E2F7	miRNA target sites
ARL2BP	miRNA target sites

Extended variants
information (count: 146 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147330182	chr4:124582354-124582355	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs367859677	chr4:124582357-124582358	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs17007176	chr4:124582377-124582378	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs186640606	chr4:124582467-124582468	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs558918458	chr4:124582474-124582475	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs191997154	chr4:124582515-124582516	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552734371	chr4:124582529-124582530	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs139327289	chr4:124582578-124582579	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs376529788	chr4:124582582-124582583	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs566230456	chr4:124582603-124582604	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200161811	chr4:124582611-124582612	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs372921193	chr4:124582615-124582616	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs367796231	chr4:124582694-124582695	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs182475256	chr4:124582709-124582710	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs548668692	chr4:124582710-124582711	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs568592186	chr4:124582734-124582735	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs187164917	chr4:124582739-124582740	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs557112776	chr4:124582817-124582818	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs570717929	chr4:124582929-124582930	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs148269037	chr4:124582933-124582934	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs372223488	chr4:124582934-124582935	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs537787596	chr4:124583038-124583039	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs569528813	chr4:124583039-124583040	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs553237334	chr4:124583048-124583049	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs191267759	chr4:124583053-124583054	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs541641522	chr4:124583072-124583073	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs555021426	chr4:124583073-124583074	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs575027781	chr4:124583135-124583136	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs62319743	chr4:124583167-124583168	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs182050037	chr4:124583192-124583193	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs536705987	chr4:124583229-124583230	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs532944435	chr4:124583235-124583236	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs546138597	chr4:124583237-124583238	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs560105482	chr4:124583277-124583278	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs11356577	chr4:124583281-124583282	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs10011376	chr4:124583291-124583292	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs78381638	chr4:124583292-124583293	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs199722710	chr4:124583293-124583294	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs12508844	chr4:124583297-124583298	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs554959720	chr4:124583346-124583347	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs369942596	chr4:124583362-124583363	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs193030261	chr4:124583375-124583376	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs530950841	chr4:124583379-124583380	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs75388133	chr4:124583390-124583391	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs114093144	chr4:124583436-124583437	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs375085247	chr4:124583458-124583459	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs56798433	chr4:124583471-124583472	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs17007178	chr4:124583511-124583512	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs34581954	chr4:124583547-124583548	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs552962003	chr4:124583555-124583556	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
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
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	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
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124573000-124586400	Weak transcription	Pancreas	Pancrea
2	chr4:124573000-124598200	Weak transcription	Right Atrium	heart
3	chr4:124573200-124585000	Weak transcription	Psoas Muscle	Psoas
4	chr4:124573400-124592400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr4:124573800-124595200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:124577800-124594000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:124578200-124584000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:124578200-124593000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:124578200-124596600	Weak transcription	Aorta	Aorta
10	chr4:124580000-124582400	Enhancers	Fetal Intestine Small	intestine
11	chr4:124580800-124605000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr4:124581200-124582400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:124581400-124582800	Enhancers	Fetal Intestine Large	intestine
14	chr4:124581400-124587000	Weak transcription	Fetal Muscle Leg	muscle
15	chr4:124581600-124585200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:124582000-124582400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:124582000-124582400	Enhancers	HepG2	liver
18	chr4:124582200-124582400	Enhancers	Adipose Nuclei	Adipose
19	chr4:124582200-124582600	Enhancers	Fetal Kidney	kidney
20	chr4:124582400-124587600	Weak transcription	Fetal Intestine Small	intestine
21	chr4:124582400-124587600	Weak transcription	HepG2	liver
22	chr4:124582400-124594000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:124582800-124586600	Weak transcription	Fetal Intestine Large	intestine
24	chr4:124584000-124584400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr4:124584400-124596000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr4:124585000-124585200	Enhancers	Psoas Muscle	Psoas
27	chr4:124585200-124585400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:124585200-124585400	Genic enhancers	Psoas Muscle	Psoas
29	chr4:124585400-124592800	Weak transcription	Psoas Muscle	Psoas
30	chr4:124585400-124597800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:124586600-124587200	Strong transcription	Fetal Intestine Large	intestine

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