Variant report

Variant	rs4419463
Chromosome Location	chr4:148739605-148739606
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:148733267..148735164-chr4:148738519..148740118,2	MCF-7	breast:
2	chr4:148731291..148732859-chr4:148738299..148740200,2	MCF-7	breast:
3	chr4:148738987..148741967-chr4:148743757..148746836,3	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10004850	0.82[ASN][1000 genomes]
rs10005192	0.83[EUR][1000 genomes]
rs10018903	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10025684	0.81[ASN][1000 genomes]
rs10029385	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10030513	0.81[ASN][1000 genomes]
rs10519917	0.90[EUR][1000 genomes]
rs11935450	0.90[EUR][1000 genomes]
rs11935510	0.90[EUR][1000 genomes]
rs11935620	0.90[EUR][1000 genomes]
rs11940379	0.90[EUR][1000 genomes]
rs12641291	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12647314	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12650219	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13116821	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13129747	0.82[ASN][1000 genomes]
rs1436489	0.89[ASN][1000 genomes]
rs1436490	0.82[ASN][1000 genomes]
rs17023870	0.90[EUR][1000 genomes]
rs17023919	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17023928	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17023995	0.82[ASN][1000 genomes]
rs2043644	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35115631	0.82[ASN][1000 genomes]
rs4240338	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4240339	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66488204	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6839440	0.85[ASN][1000 genomes]
rs7655236	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7666127	0.80[ASN][1000 genomes]
rs9995896	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9996108	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880243	chr4:148735644-148879583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148721800-148744200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:148729400-148742200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:148730000-148742200	Weak transcription	HSMM	muscle
4	chr4:148732600-148742200	Weak transcription	GM12878-XiMat	blood
5	chr4:148732600-148744000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:148733200-148742400	Weak transcription	Fetal Intestine Small	intestine
7	chr4:148734000-148742800	Weak transcription	Fetal Lung	lung
8	chr4:148734600-148761000	Weak transcription	Fetal Kidney	kidney
9	chr4:148734800-148742000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:148735000-148741200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:148735400-148742200	Weak transcription	NHLF	lung
12	chr4:148735800-148741400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:148735800-148742800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:148736200-148741200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:148736200-148742200	Weak transcription	HSMMtube	muscle
16	chr4:148736400-148741200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:148736400-148741800	Weak transcription	HMEC	breast
18	chr4:148736400-148742000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:148736600-148742000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:148737000-148739800	Enhancers	Fetal Heart	heart
21	chr4:148737000-148747200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr4:148737200-148758200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr4:148737400-148742200	Weak transcription	Esophagus	oesophagus
24	chr4:148737400-148742200	Weak transcription	HUVEC	blood vessel
25	chr4:148737400-148742400	Weak transcription	Small Intestine	intestine
26	chr4:148737600-148740800	Weak transcription	Right Atrium	heart
27	chr4:148737600-148742400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr4:148737600-148742400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr4:148737600-148742600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr4:148737600-148742800	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr4:148737600-148742800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr4:148737600-148746800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:148737600-148747000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:148737600-148747000	Weak transcription	Gastric	stomach
35	chr4:148737600-148750400	Weak transcription	Lung	lung
36	chr4:148737600-148751000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr4:148737800-148741000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:148737800-148742200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:148737800-148742200	Weak transcription	Spleen	Spleen
40	chr4:148737800-148742400	Weak transcription	Fetal Stomach	stomach
41	chr4:148737800-148742400	Weak transcription	Fetal Thymus	thymus
42	chr4:148737800-148751400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr4:148737800-148755400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr4:148737800-148757000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:148737800-148782200	Weak transcription	Thymus	Thymus
46	chr4:148738000-148742200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr4:148738200-148742000	Weak transcription	Fetal Muscle Leg	muscle
48	chr4:148738200-148742200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr4:148738200-148742200	Weak transcription	Brain Anterior Caudate	brain
50	chr4:148738600-148742000	Weak transcription	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links