Variant report

Variant	esv3341831
Chromosome Location	chr4:3344704-3347502
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:3345074..3347959-chr4:3442893..3444446,2	MCF-7	breast:
2	chr4:3344785..3347772-chr4:3481036..3482952,2	MCF-7	breast:
3	chr4:3347483..3348481-chr4:3444797..3445914,9	MCF-7	breast:
4	chr4:3346774..3348608-chr4:3355000..3357039,2	MCF-7	breast:
5	chr4:3343221..3349626-chr4:3462156..3471133,16	MCF-7	breast:
6	chr4:3346980..3350932-chr4:3475951..3478417,3	MCF-7	breast:
7	chr4:3347496..3348411-chr4:3444927..3445862,6	K562	blood:
8	chr4:3346041..3348825-chr4:3461682..3464499,2	MCF-7	breast:
9	chr4:3345570..3349550-chr4:3443309..3446675,3	MCF-7	breast:
10	chr4:3344329..3346374-chr4:3348112..3350683,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175920	chromatin interactions
ENSG00000109758	chromatin interactions

Extended variants
information (count: 121 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368693467	chr4:3344710-3344711	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138349966	chr4:3344713-3344714	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551604912	chr4:3344747-3344748	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs553627861	chr4:3344750-3344751	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs141833600	chr4:3344759-3344760	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs61759902	chr4:3344760-3344761	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs138644192	chr4:3344761-3344762	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs373256094	chr4:3344813-3344814	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs376828812	chr4:3344831-3344832	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs34344782	chr4:3344842-3344843	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs534680199	chr4:3344846-3344847	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs557908173	chr4:3344887-3344888	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs2073286	chr4:3344891-3344892	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs71608278	chr4:3344915-3344916	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs557630097	chr4:3344929-3344930	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs140754557	chr4:3344933-3344934	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs75746511	chr4:3344940-3344941	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs35633414	chr4:3344953-3344954	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs532059382	chr4:3344964-3344965	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs553294409	chr4:3345005-3345006	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs573174451	chr4:3345015-3345016	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs74334641	chr4:3345020-3345021	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs565018410	chr4:3345021-3345022	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs530949492	chr4:3345033-3345034	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs77460843	chr4:3345060-3345061	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs372368387	chr4:3345068-3345069	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs563338718	chr4:3345090-3345091	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs188233306	chr4:3345105-3345106	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs79840965	chr4:3345112-3345113	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs559272500	chr4:3345132-3345133	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs115105621	chr4:3345153-3345154	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs551431000	chr4:3345155-3345156	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs77639436	chr4:3345164-3345165	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs75756650	chr4:3345181-3345182	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs551148419	chr4:3345183-3345184	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs567775507	chr4:3345206-3345207	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs536919591	chr4:3345237-3345238	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs371318928	chr4:3345265-3345266	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs75422130	chr4:3345284-3345285	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs368733761	chr4:3345289-3345290	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs192504087	chr4:3345320-3345321	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs35235747	chr4:3345334-3345335	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs35227339	chr4:3345349-3345350	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs573511994	chr4:3345350-3345351	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs538635945	chr4:3345413-3345414	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs558572641	chr4:3345424-3345425	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs150852711	chr4:3345433-3345434	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs139345567	chr4:3345450-3345451	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs150040316	chr4:3345466-3345467	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs114946546	chr4:3345489-3345490	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3301200-3350000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:3314400-3348200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:3320400-3351800	Weak transcription	Aorta	Aorta
4	chr4:3321000-3347000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:3323600-3344800	Weak transcription	Fetal Intestine Large	intestine
6	chr4:3325600-3348000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:3326400-3344800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:3326400-3348000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:3334000-3345800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:3334000-3370600	Weak transcription	Right Atrium	heart
11	chr4:3339200-3353200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:3342000-3345200	Weak transcription	Gastric	stomach
13	chr4:3342000-3348200	Weak transcription	Brain Angular Gyrus	brain
14	chr4:3342200-3348000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr4:3342600-3348000	Weak transcription	Liver	Liver
16	chr4:3342600-3350200	Weak transcription	Pancreas	Pancrea
17	chr4:3342800-3348000	Weak transcription	Left Ventricle	heart
18	chr4:3342800-3348000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr4:3342800-3355400	Weak transcription	Esophagus	oesophagus
20	chr4:3343000-3345200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr4:3343600-3344800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr4:3343600-3344800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:3343600-3344800	Flanking Active TSS	A549	lung
24	chr4:3343600-3344800	Enhancers	HepG2	liver
25	chr4:3343600-3344800	Flanking Active TSS	HUVEC	blood vessel
26	chr4:3343600-3345000	Enhancers	Fetal Lung	lung
27	chr4:3343800-3344800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:3343800-3344800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr4:3343800-3344800	Weak transcription	Lung	lung
30	chr4:3343800-3348000	Weak transcription	Placenta	Placenta
31	chr4:3343800-3350200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:3344000-3344800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:3344000-3344800	Enhancers	Fetal Kidney	kidney
34	chr4:3344000-3345400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:3344000-3345800	Weak transcription	Fetal Brain Male	brain
36	chr4:3344000-3347800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:3344000-3347800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr4:3344000-3352400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr4:3344000-3354600	Weak transcription	Right Ventricle	heart
40	chr4:3344200-3344800	Weak transcription	Fetal Intestine Small	intestine
41	chr4:3344200-3348000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr4:3344200-3348000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr4:3344200-3348000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr4:3344400-3344800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:3344400-3344800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:3344400-3344800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr4:3344400-3344800	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr4:3344400-3344800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr4:3344400-3344800	Enhancers	NHLF	lung
50	chr4:3344400-3345000	Weak transcription	Adipose Nuclei	Adipose

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