Variant report

Variant	rs61194042
Chromosome Location	chr4:2966730-2966731
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr4:2966590-2966918	K562	blood:	n/a	chr4:2966770-2966788
2	MAFF	chr4:2966654-2966927	HepG2	liver:	n/a	chr4:2966770-2966788
3	MAFK	chr4:2966623-2966925	HepG2	liver:	n/a	n/a
4	CUX1	chr4:2966477-2966918	K562	blood:	n/a	n/a
5	MAFK	chr4:2966539-2966925	K562	blood:	n/a	n/a
6	ZNF384	chr4:2966488-2966876	K562	blood:	n/a	n/a
7	KAP1	chr4:2966718-2967162	HEK293	kidney:	n/a	n/a
8	MAFK	chr4:2966657-2966940	HepG2	liver:	n/a	n/a
9	MAFK	chr4:2966645-2966922	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:2962932..2965178-chr4:2965934..2967449,2	MCF-7	breast:
2	chr4:2963799..2967429-chr4:2967585..2973552,6	K562	blood:
3	chr4:2965936..2968451-chr4:2977512..2979704,2	K562	blood:
4	chr4:2965958..2968897-chr4:2971775..2974450,2	MCF-7	breast:

Variant related genes	Relation type
GRK4	TF binding region
NOP14	TF binding region
ENSG00000087269	Chromatin interaction
ENSG00000125388	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16843735	1.00[AMR][1000 genomes]
rs56822742	1.00[AMR][1000 genomes]
rs57643304	1.00[AMR][1000 genomes]
rs57750261	1.00[AMR][1000 genomes]
rs59539429	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription 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 target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv1008436	chr4:2947160-3031195	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv536998	chr4:2947160-3031195	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv593438	chr4:2948456-3030097	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1008527	chr4:2957814-3019042	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1014013	chr4:2959876-3009507	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv536999	chr4:2959876-3009507	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv878453	chr4:2963222-3021383	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv1008781	chr4:2964080-3019042	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv1003528	chr4:2964261-3011568	Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv537000	chr4:2964261-3011568	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	esv3406626	chr4:2964379-2966927	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2963200-2966800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:2964000-2966800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:2964400-2966800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:2965800-2966800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:2965800-2966800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:2965800-2967200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr4:2966000-2966800	Flanking Active TSS	K562	blood
8	chr4:2966000-2966800	Flanking Active TSS	NHLF	lung
9	chr4:2966000-2966800	Flanking Active TSS	Osteobl	bone
10	chr4:2966000-2967200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:2966000-2967200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:2966000-2967200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr4:2966200-2966800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:2966200-2967000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:2966200-2967000	Weak transcription	Gastric	stomach
16	chr4:2966200-2967000	Enhancers	Small Intestine	intestine
17	chr4:2966200-2967400	Enhancers	Esophagus	oesophagus
18	chr4:2966200-2968200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:2966200-2970400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:2966200-2972200	Weak transcription	Aorta	Aorta
21	chr4:2966200-2977400	Weak transcription	Lung	lung
22	chr4:2966400-2966800	Enhancers	Primary B cells from cord blood	blood
23	chr4:2966400-2966800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:2966400-2966800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:2966400-2966800	Enhancers	Adipose Nuclei	Adipose
26	chr4:2966400-2966800	Enhancers	Brain Substantia Nigra	brain
27	chr4:2966400-2966800	Weak transcription	Fetal Kidney	kidney
28	chr4:2966400-2966800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr4:2966400-2967000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:2966400-2967000	Enhancers	Fetal Muscle Trunk	muscle
31	chr4:2966400-2967000	Enhancers	Fetal Muscle Leg	muscle
32	chr4:2966400-2967000	Enhancers	Fetal Stomach	stomach
33	chr4:2966400-2967000	Weak transcription	Pancreas	Pancrea
34	chr4:2966400-2967200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:2966400-2967200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr4:2966400-2967200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:2966400-2967200	Enhancers	Brain Cingulate Gyrus	brain
38	chr4:2966400-2967200	Active TSS	Brain Hippocampus Middle	brain
39	chr4:2966400-2968200	Weak transcription	Psoas Muscle	Psoas
40	chr4:2966400-2968800	Weak transcription	Fetal Intestine Small	intestine
41	chr4:2966400-2969400	Weak transcription	Placenta	Placenta
42	chr4:2966400-2970400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:2966400-2973200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:2966400-2974000	Weak transcription	Right Ventricle	heart
45	chr4:2966400-2974800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:2966400-2975600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:2966400-2978600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr4:2966400-2980200	Weak transcription	Left Ventricle	heart
49	chr4:2966400-2980200	Weak transcription	Ovary	ovary
50	chr4:2966400-2980400	Weak transcription	Spleen	Spleen

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