Variant report

Variant	rs56125412
Chromosome Location	chr4:7846696-7846697
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7845370..7847156-chr4:7848481..7850220,2	K562	blood:
2	chr4:7845484..7847310-chr4:7939742..7941375,2	MCF-7	breast:
3	chr4:7844578..7847956-chr4:7851101..7853656,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228919	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs58156060	1.00[AMR][1000 genomes]
rs58161931	1.00[AMR][1000 genomes]
rs58578559	1.00[AMR][1000 genomes]
rs60252299	1.00[AMR][1000 genomes]
rs73795054	1.00[AMR][1000 genomes]
rs73795057	1.00[AMR][1000 genomes]
rs73795747	1.00[AMR][1000 genomes]
rs73797313	1.00[AMR][1000 genomes]
rs73798024	1.00[AMR][1000 genomes]
rs73798025	1.00[AMR][1000 genomes]
rs73798048	1.00[AMR][1000 genomes]

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:101 , 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	chr4:7844400-7846800	Transcr. at gene 5' and 3'	A549	lung
27	chr4:7844600-7847800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:7844800-7846800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:7844800-7846800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr4:7844800-7847400	Enhancers	HMEC	breast
31	chr4:7844800-7848000	Enhancers	Rectal Smooth Muscle	rectum
32	chr4:7845000-7846800	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr4:7845000-7847000	Enhancers	Hela-S3	cervix
34	chr4:7845000-7847800	Genic enhancers	HSMMtube	muscle
35	chr4:7845000-7848400	Weak transcription	Fetal Intestine Large	intestine
36	chr4:7845000-7848800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:7845000-7849800	Genic enhancers	Osteobl	bone
38	chr4:7845000-7852000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:7845000-7856400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr4:7845000-7858600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:7845000-7863200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:7845200-7846800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:7845200-7847600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:7845200-7848000	Genic enhancers	Stomach Smooth Muscle	stomach
45	chr4:7845200-7849400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:7845200-7859000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:7845400-7846800	Enhancers	Fetal Heart	heart
48	chr4:7845400-7847000	Enhancers	Colon Smooth Muscle	Colon
49	chr4:7845400-7847400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:7845400-7848200	Genic enhancers	HSMM	muscle

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