Variant report

Variant	rs4473655
Chromosome Location	chr4:7847468-7847469
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7844578..7847956-chr4:7851101..7853656,4	MCF-7	breast:
2	chr4:7847228..7849126-chr4:7849365..7851826,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs28393652	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28418478	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28451112	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28468456	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28508479	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28612887	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28621561	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28638094	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28657375	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28657625	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28662492	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28728216	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28861809	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4234834	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4377592	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4383619	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4388087	1.00[ASW][hapmap];0.91[CEU][hapmap];0.93[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4404542	1.00[ASW][hapmap];0.91[CEU][hapmap];0.93[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4413405	1.00[ASW][hapmap];0.91[CEU][hapmap];0.93[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4496581	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4496582	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4552460	0.91[CEU][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4605652	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4623000	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6838291	0.83[CEU][hapmap];0.92[CHD][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7821200-7859000	Weak transcription	Aorta	Aorta
2	chr4:7825600-7852200	Weak transcription	Gastric	stomach
3	chr4:7825800-7854200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr4:7830400-7850000	Weak transcription	Right Ventricle	heart
5	chr4:7830400-7862600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:7830600-7855200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:7830600-7856200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:7830600-7857200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:7830600-7862200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:7830600-7862400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:7830800-7854400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:7832200-7854000	Weak transcription	Brain Angular Gyrus	brain
13	chr4:7833800-7855200	Weak transcription	Spleen	Spleen
14	chr4:7836600-7855200	Weak transcription	Fetal Kidney	kidney
15	chr4:7840600-7853400	Weak transcription	Pancreas	Pancrea
16	chr4:7842000-7847600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:7842000-7847600	Weak transcription	Fetal Brain Male	brain
18	chr4:7842800-7847800	Genic enhancers	Fetal Muscle Leg	muscle
19	chr4:7842800-7848000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr4:7843200-7847800	Weak transcription	Primary T cells from cord blood	blood
21	chr4:7843400-7848800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr4:7843400-7852400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:7843600-7848400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:7843600-7851200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr4:7843600-7863000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:7844600-7847800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr4:7844800-7848000	Enhancers	Rectal Smooth Muscle	rectum
28	chr4:7845000-7847800	Genic enhancers	HSMMtube	muscle
29	chr4:7845000-7848400	Weak transcription	Fetal Intestine Large	intestine
30	chr4:7845000-7848800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:7845000-7849800	Genic enhancers	Osteobl	bone
32	chr4:7845000-7852000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:7845000-7856400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr4:7845000-7858600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:7845000-7863200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:7845200-7847600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:7845200-7848000	Genic enhancers	Stomach Smooth Muscle	stomach
38	chr4:7845200-7849400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:7845200-7859000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:7845400-7848200	Genic enhancers	HSMM	muscle
41	chr4:7845400-7852000	Weak transcription	Fetal Brain Female	brain
42	chr4:7845800-7848200	Genic enhancers	Muscle Satellite Cultured Cells	--
43	chr4:7845800-7850400	Weak transcription	Brain Germinal Matrix	brain
44	chr4:7846000-7848600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr4:7846000-7852200	Weak transcription	Colonic Mucosa	Colon
46	chr4:7846200-7847600	Weak transcription	Brain Anterior Caudate	brain
47	chr4:7846200-7848600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:7846200-7851200	Weak transcription	Fetal Lung	lung
49	chr4:7846200-7853800	Weak transcription	Stomach Mucosa	stomach
50	chr4:7846200-7860200	Weak transcription	Small Intestine	intestine

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