Variant report

Variant	esv3324369
Chromosome Location	chr4:22391554-22392752
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:22391010..22391614-chr4:22608701..22609240,2	MCF-7	breast:
2	chr4:22386027..22387843-chr4:22392194..22394951,2	MCF-7	breast:
3	chr4:21790239..21792742-chr4:22389960..22391772,13	MCF-7	breast:
4	chr4:21790330..21793132-chr4:22390550..22391689,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251516	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114679907	chr4:22391596-22391597	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs73110178	chr4:22391615-22391616	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs144666501	chr4:22391714-22391715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541293324	chr4:22391717-22391718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559881857	chr4:22391726-22391727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148543783	chr4:22391737-22391738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6855444	chr4:22391756-22391757	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs6855769	chr4:22391761-22391762	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs567854506	chr4:22391776-22391777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113070087	chr4:22391812-22391813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563329197	chr4:22391816-22391817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182205038	chr4:22391851-22391852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548956935	chr4:22391856-22391857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567494135	chr4:22391936-22391937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564506443	chr4:22391944-22391945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs398107089	chr4:22391945-22391946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148332863	chr4:22391949-22391950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10623891	chr4:22391961-22391962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374456728	chr4:22391962-22391963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536746578	chr4:22391968-22391969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10623892	chr4:22391971-22391972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35635756	chr4:22391972-22391973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185993210	chr4:22391982-22391983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550918459	chr4:22391988-22391989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71193454	chr4:22391991-22391992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199665191	chr4:22391992-22391993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76539725	chr4:22392002-22392003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75589769	chr4:22392008-22392009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568360989	chr4:22392023-22392024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199664800	chr4:22392026-22392027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571007996	chr4:22392032-22392033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529129504	chr4:22392036-22392037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571433220	chr4:22392051-22392052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538418487	chr4:22392052-22392053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547597485	chr4:22392054-22392055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371516836	chr4:22392055-22392056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565702352	chr4:22392056-22392057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539524565	chr4:22392059-22392060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147305521	chr4:22392064-22392065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541607541	chr4:22392068-22392069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377109999	chr4:22392069-22392070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576085685	chr4:22392156-22392157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140873731	chr4:22392161-22392162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77540665	chr4:22392164-22392165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574287339	chr4:22392215-22392216	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541726769	chr4:22392230-22392231	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144811355	chr4:22392271-22392272	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375378443	chr4:22392352-22392353	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545580882	chr4:22392359-22392360	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200560387	chr4:22392367-22392368	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22368800-22418600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:22371600-22449800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:22372000-22400400	Weak transcription	Gastric	stomach
4	chr4:22382600-22409600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:22383200-22438000	Weak transcription	Lung	lung
6	chr4:22383600-22404200	Weak transcription	Fetal Kidney	kidney
7	chr4:22383600-22442800	Weak transcription	A549	lung
8	chr4:22384200-22400400	Weak transcription	Ovary	ovary
9	chr4:22384200-22401000	Weak transcription	Small Intestine	intestine
10	chr4:22384200-22413000	Weak transcription	Fetal Heart	heart
11	chr4:22384600-22392000	Weak transcription	Stomach Mucosa	stomach
12	chr4:22384600-22392400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:22384600-22393000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:22385200-22391600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:22385400-22430400	Weak transcription	Psoas Muscle	Psoas
16	chr4:22386000-22446600	Weak transcription	Fetal Thymus	thymus
17	chr4:22386600-22394400	Strong transcription	Liver	Liver
18	chr4:22386600-22394600	Strong transcription	Fetal Intestine Large	intestine
19	chr4:22387400-22397800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:22387600-22392200	Strong transcription	Fetal Muscle Leg	muscle
21	chr4:22387800-22392800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:22387800-22397800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:22388000-22393000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:22388000-22393000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:22388000-22399200	Weak transcription	Fetal Brain Female	brain
26	chr4:22388000-22411400	Weak transcription	NHDF-Ad	bronchial
27	chr4:22388000-22416600	Weak transcription	NHLF	lung
28	chr4:22388200-22393000	Weak transcription	Osteobl	bone
29	chr4:22388200-22393200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:22388200-22432400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr4:22388200-22442800	Weak transcription	Brain Germinal Matrix	brain
32	chr4:22388400-22417800	Weak transcription	HUVEC	blood vessel
33	chr4:22388400-22473600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr4:22388800-22469600	Weak transcription	Colonic Mucosa	Colon
35	chr4:22389200-22391600	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr4:22389200-22392600	Strong transcription	Fetal Stomach	stomach
37	chr4:22389200-22402400	Weak transcription	Esophagus	oesophagus
38	chr4:22389200-22473600	Weak transcription	Fetal Brain Male	brain
39	chr4:22390200-22392200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr4:22390200-22392200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:22390200-22393000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:22390200-22394000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:22390200-22404800	Weak transcription	Pancreas	Pancrea
44	chr4:22390200-22414800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:22390400-22393400	Weak transcription	Brain Hippocampus Middle	brain
46	chr4:22390400-22398200	Weak transcription	Left Ventricle	heart
47	chr4:22390400-22399400	Weak transcription	Adipose Nuclei	Adipose
48	chr4:22390400-22400400	Weak transcription	Colon Smooth Muscle	Colon
49	chr4:22390400-22402000	Weak transcription	Right Ventricle	heart
50	chr4:22390600-22392600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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