Variant report

Variant	rs16844282
Chromosome Location	chr4:3409091-3409092
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:3403449..3406245-chr4:3407590..3409383,2	K562	blood:
2	chr4:3407565..3409961-chr4:3422127..3423905,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10022329	1.00[JPT][hapmap]
rs11942127	1.00[JPT][hapmap]
rs11943298	1.00[CHB][hapmap]
rs11943410	1.00[JPT][hapmap]
rs1203110	1.00[JPT][hapmap]
rs13128489	1.00[JPT][hapmap]
rs13434660	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16843151	1.00[JPT][hapmap]
rs16844209	1.00[JPT][hapmap]
rs16844248	0.82[ASN][1000 genomes]
rs16844266	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]
rs16844274	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16844277	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16844333	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16844345	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs2498323	1.00[JPT][hapmap]
rs28444642	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28525039	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28532840	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28608121	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60881721	0.91[ASN][1000 genomes]
rs6813597	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73792007	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73792010	1.00[EUR][1000 genomes]
rs73792028	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73795536	0.91[ASN][1000 genomes]
rs73795545	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73795547	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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
11	esv2757918	chr4:3394344-4350986	Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
12	esv2759219	chr4:3394344-4350986	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
13	nsv461166	chr4:3405165-3451109	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv593450	chr4:3405165-3451109	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv878464	chr4:3405165-3505448	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv878465	chr4:3405165-3566567	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	esv1791851	chr4:3407753-3534022	Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr4:3390000-3417200	Weak transcription	Gastric	stomach
2	chr4:3391000-3414000	Weak transcription	Primary T cells from cord blood	blood
3	chr4:3391800-3424200	Weak transcription	Colonic Mucosa	Colon
4	chr4:3392000-3417200	Weak transcription	Pancreas	Pancrea
5	chr4:3392400-3409800	Weak transcription	Spleen	Spleen
6	chr4:3399200-3432200	Weak transcription	Right Atrium	heart
7	chr4:3401600-3416200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr4:3401800-3416000	Weak transcription	Right Ventricle	heart
9	chr4:3403200-3409200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:3403400-3417200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr4:3404800-3414200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:3405000-3410800	Strong transcription	Esophagus	oesophagus
13	chr4:3405000-3415000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr4:3405200-3415800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:3405200-3418800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:3406200-3410000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr4:3406400-3409200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:3406400-3409400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:3406400-3410000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:3406400-3417200	Weak transcription	HMEC	breast
21	chr4:3406600-3409200	Weak transcription	Fetal Lung	lung
22	chr4:3406600-3410000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:3406600-3410400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr4:3406600-3413800	Weak transcription	Adipose Nuclei	Adipose
25	chr4:3406600-3417200	Weak transcription	HSMM	muscle
26	chr4:3406800-3415600	Weak transcription	Lung	lung
27	chr4:3406800-3417400	Weak transcription	Aorta	Aorta
28	chr4:3407000-3409800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:3407000-3409800	Strong transcription	Fetal Intestine Small	intestine
30	chr4:3407000-3410200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:3407200-3409800	Weak transcription	Fetal Stomach	stomach
32	chr4:3407200-3410600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:3407200-3417200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:3407200-3417200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr4:3407200-3417800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:3407400-3409400	Weak transcription	NHEK	skin
37	chr4:3407400-3410000	Enhancers	Fetal Brain Female	brain
38	chr4:3407400-3415400	Weak transcription	Fetal Muscle Leg	muscle
39	chr4:3407400-3417800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:3407600-3415400	Weak transcription	Fetal Heart	heart
41	chr4:3407600-3417200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr4:3407600-3418000	Weak transcription	Left Ventricle	heart
43	chr4:3407800-3409200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:3407800-3409600	Enhancers	Liver	Liver
45	chr4:3407800-3409600	Enhancers	HepG2	liver
46	chr4:3407800-3417600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:3408200-3409200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr4:3408200-3409400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:3408200-3409400	Enhancers	Brain Anterior Caudate	brain
50	chr4:3408200-3409400	Enhancers	Fetal Brain Male	brain

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