Variant report

Variant	rs13104157
Chromosome Location	chr4:3366950-3366951
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	ZNF263	chr4:3366753-3367362	HEK293-T-REx	kidney:	n/a	chr4:3367125-3367146

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:3365608..3368928-chr4:3369932..3375344,5	MCF-7	breast:

Variant related genes	Relation type
RGS12	TF binding region
ENSG00000159788	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10155132	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10937924	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13150241	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236052	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2239725	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2748447	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2749778	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2749780	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2749781	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2749782	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2749783	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2857982	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3129308	0.86[EUR][1000 genomes]
rs3129310	0.85[EUR][1000 genomes]
rs3129327	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3129328	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3129334	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3135145	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3135146	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60181496	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60208975	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6819202	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7435601	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs881816	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs881817	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs910568	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv878456	chr4:3215835-3467519	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv428106	chr4:3226182-3752322	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv878462	chr4:3311548-3505448	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1007847	chr4:3317904-3527357	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv537001	chr4:3317904-3527357	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv878463	chr4:3363994-3498896	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3334000-3370600	Weak transcription	Right Atrium	heart
2	chr4:3344400-3367600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:3348200-3367400	Weak transcription	Fetal Heart	heart
4	chr4:3348400-3367600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:3350800-3367600	Weak transcription	Ovary	ovary
6	chr4:3354800-3368200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr4:3355000-3367800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr4:3355200-3368400	Weak transcription	Fetal Intestine Small	intestine
9	chr4:3356600-3368000	Weak transcription	Fetal Intestine Large	intestine
10	chr4:3358200-3367800	Weak transcription	HepG2	liver
11	chr4:3358800-3369000	Weak transcription	Fetal Lung	lung
12	chr4:3360400-3370000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr4:3360600-3370000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr4:3361400-3370000	Weak transcription	HSMM	muscle
15	chr4:3362800-3369200	Weak transcription	HSMMtube	muscle
16	chr4:3363600-3368400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:3363600-3371000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:3364600-3367000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:3364800-3367200	Weak transcription	Fetal Kidney	kidney
20	chr4:3364800-3368400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:3364800-3370400	Weak transcription	Pancreas	Pancrea
22	chr4:3364800-3370400	Weak transcription	NHLF	lung
23	chr4:3364800-3370600	Weak transcription	Esophagus	oesophagus
24	chr4:3365000-3367000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr4:3365000-3367000	Enhancers	Fetal Muscle Leg	muscle
26	chr4:3365000-3367600	Weak transcription	Right Ventricle	heart
27	chr4:3365000-3369000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:3365000-3371000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr4:3365400-3368200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:3365400-3368400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr4:3365600-3367200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:3365600-3370400	Weak transcription	Gastric	stomach
33	chr4:3365800-3367000	Weak transcription	Fetal Brain Male	brain
34	chr4:3365800-3370000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr4:3365800-3370000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr4:3366000-3367000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:3366000-3367200	Enhancers	Brain Anterior Caudate	brain
38	chr4:3366000-3367800	Weak transcription	Fetal Stomach	stomach
39	chr4:3366000-3368800	Enhancers	Liver	Liver
40	chr4:3366000-3369000	Weak transcription	Fetal Thymus	thymus
41	chr4:3366000-3370200	Weak transcription	Primary T cells from cord blood	blood
42	chr4:3366000-3370400	Weak transcription	Thymus	Thymus
43	chr4:3366000-3370600	Weak transcription	Colonic Mucosa	Colon
44	chr4:3366200-3367000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:3366200-3367200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr4:3366200-3367600	Weak transcription	Fetal Brain Female	brain
47	chr4:3366200-3367600	Weak transcription	Placenta	Placenta
48	chr4:3366200-3368800	Weak transcription	Spleen	Spleen
49	chr4:3366200-3369600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr4:3366400-3368200	Weak transcription	Lung	lung

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