Variant report

Variant	rs16844266
Chromosome Location	chr4:3393352-3393353
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3391529..3394240-chr4:3404646..3406512,2	K562	blood:
2	chr4:3386670..3388644-chr4:3392209..3394600,2	MCF-7	breast:
3	chr4:3388256..3390546-chr4:3393263..3395293,2	MCF-7	breast:
4	chr4:3391661..3394248-chr4:3394902..3396855,2	MCF-7	breast:
5	chr4:3391760..3394372-chr4:3396180..3399240,3	K562	blood:

Variant related genes	Relation type
ENSG00000159788	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10022329	1.00[JPT][hapmap]
rs11942127	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs11943410	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs1203110	1.00[JPT][hapmap]
rs13128489	1.00[JPT][hapmap]
rs13434660	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs16843151	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs16844209	1.00[JPT][hapmap]
rs16844248	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs16844274	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs16844277	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs16844282	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs16844336	1.00[AMR][1000 genomes]
rs16844345	1.00[JPT][hapmap]
rs2498323	1.00[JPT][hapmap]
rs28444642	0.92[ASN][1000 genomes]
rs28525039	0.92[ASN][1000 genomes]
rs28532840	0.92[ASN][1000 genomes]
rs28608121	0.92[ASN][1000 genomes]
rs60881721	0.91[ASN][1000 genomes]
rs6813597	0.84[ASN][1000 genomes]
rs73792007	0.84[ASN][1000 genomes]
rs73792028	0.92[ASN][1000 genomes]
rs73795536	0.91[ASN][1000 genomes]
rs73795545	0.92[ASN][1000 genomes]
rs73795547	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
9	nsv428435	chr4:3386773-3623321	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv933265	chr4:3392824-4283640	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3386600-3393800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:3386800-3393600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr4:3386800-3393600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:3386800-3395800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:3388000-3394400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:3388400-3393600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:3388600-3394400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:3388800-3394400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:3389000-3393400	Enhancers	Brain Germinal Matrix	brain
10	chr4:3389200-3395000	Weak transcription	HepG2	liver
11	chr4:3389200-3403400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:3390000-3393400	Enhancers	Placenta	Placenta
13	chr4:3390000-3404600	Weak transcription	Left Ventricle	heart
14	chr4:3390000-3417200	Weak transcription	Gastric	stomach
15	chr4:3390200-3394200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr4:3390200-3398600	Weak transcription	Brain Angular Gyrus	brain
17	chr4:3391000-3394000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr4:3391000-3398000	Weak transcription	Fetal Brain Female	brain
19	chr4:3391000-3404600	Weak transcription	Aorta	Aorta
20	chr4:3391000-3414000	Weak transcription	Primary T cells from cord blood	blood
21	chr4:3391200-3396800	Weak transcription	NHLF	lung
22	chr4:3391200-3398800	Weak transcription	Right Atrium	heart
23	chr4:3391400-3407400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:3391400-3408800	Weak transcription	Ovary	ovary
25	chr4:3391600-3394000	Weak transcription	Osteobl	bone
26	chr4:3391600-3395200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:3391600-3397800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr4:3391600-3399200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:3391600-3404000	Weak transcription	HSMMtube	muscle
30	chr4:3391600-3407800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr4:3391800-3398000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:3391800-3401400	Weak transcription	Liver	Liver
33	chr4:3391800-3403000	Weak transcription	HMEC	breast
34	chr4:3391800-3403400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr4:3391800-3424200	Weak transcription	Colonic Mucosa	Colon
36	chr4:3392000-3393600	Weak transcription	Fetal Kidney	kidney
37	chr4:3392000-3394000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr4:3392000-3395000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr4:3392000-3395000	Weak transcription	GM12878-XiMat	blood
40	chr4:3392000-3396800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:3392000-3398000	Weak transcription	Fetal Lung	lung
42	chr4:3392000-3417200	Weak transcription	Pancreas	Pancrea
43	chr4:3392200-3394400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr4:3392200-3395000	Weak transcription	Fetal Thymus	thymus
45	chr4:3392200-3397000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:3392400-3395400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr4:3392400-3397800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:3392400-3403200	Weak transcription	Fetal Intestine Small	intestine
49	chr4:3392400-3409800	Weak transcription	Spleen	Spleen
50	chr4:3392600-3393400	Enhancers	Fetal Stomach	stomach

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