Variant report

Variant	rs4544266
Chromosome Location	chr16:74660993-74660994
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:74660477..74662729-chr16:74664417..74666461,2	K562	blood:
2	chr16:74660349..74663096-chr16:74695955..74699046,3	MCF-7	breast:
3	chr16:74656365..74659328-chr16:74659841..74662459,3	K562	blood:
4	chr16:74539803..74542513-chr16:74659240..74661009,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10400930	0.81[ASN][1000 genomes]
rs12921903	0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12935075	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13339156	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28377859	0.82[ASN][1000 genomes]
rs28502731	0.81[ASN][1000 genomes]
rs4072450	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4243108	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4271617	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs4286131	0.86[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs4287593	0.86[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs4302071	0.81[ASN][1000 genomes]
rs4462623	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4548905	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4564599	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4887776	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4887777	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4887779	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4888258	0.81[ASN][1000 genomes]
rs4888259	0.80[ASN][1000 genomes]
rs4888266	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6564147	0.80[ASN][1000 genomes]
rs6564148	0.80[ASN][1000 genomes]
rs6564149	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6564152	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6564153	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6564154	0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs7184754	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7185722	0.85[ASN][1000 genomes]
rs7190631	0.81[AFR][1000 genomes]
rs7193423	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7193508	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7193583	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7193959	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7194687	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7195135	0.80[ASN][1000 genomes]
rs7195499	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7204804	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7205258	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8050624	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8052923	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8055803	0.80[ASN][1000 genomes]
rs8056718	0.82[ASN][1000 genomes]
rs8057279	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8058034	0.81[ASN][1000 genomes]
rs8058437	0.80[ASN][1000 genomes]
rs8062404	0.82[ASN][1000 genomes]
rs8062959	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9921672	0.83[AMR][1000 genomes]
rs9927073	0.80[ASN][1000 genomes]
rs9928181	0.81[ASN][1000 genomes]
rs9938833	0.86[AFR][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	nsv916687	chr16:74241238-74896721	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv1062517	chr16:74483574-74710623	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv833279	chr16:74490746-74663073	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking 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	20 gene(s)	inside rSNPs	diseases
5	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer 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	123 gene(s)	inside rSNPs	diseases
6	nsv906905	chr16:74527618-74679244	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	esv275138	chr16:74647795-74722907	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	esv2760414	chr16:74647795-74741615	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv1061948	chr16:74660609-74882915	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
10	nsv542957	chr16:74660609-74882915	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4544266	RFWD3	cis	Skin Sun Exposed Lower leg	GTEx
rs4544266	MLKL	Cis_1M	lymphoblastoid	RTeQTL
rs4544266	RFWD3	cis	Esophagus Mucosa	GTEx
rs4544266	RFWD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74642200-74688800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:74647800-74691800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr16:74648800-74688400	Strong transcription	Dnd41	blood
4	chr16:74648800-74692200	Strong transcription	Fetal Thymus	thymus
5	chr16:74650800-74687400	Strong transcription	Thymus	Thymus
6	chr16:74651000-74691200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr16:74652000-74664200	Weak transcription	Fetal Heart	heart
8	chr16:74652000-74674600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr16:74652000-74686000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:74652000-74692200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr16:74652200-74685600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr16:74652200-74687400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr16:74652200-74699000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr16:74653000-74686800	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr16:74653000-74687800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr16:74653200-74669600	Strong transcription	Fetal Intestine Large	intestine
17	chr16:74653200-74683000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr16:74653200-74685600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr16:74653200-74687200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr16:74653200-74687800	Strong transcription	Fetal Stomach	stomach
21	chr16:74653200-74690600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr16:74653200-74698800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr16:74653400-74661400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr16:74653400-74670600	Strong transcription	A549	lung
25	chr16:74653400-74672000	Strong transcription	Fetal Muscle Leg	muscle
26	chr16:74653400-74699000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr16:74653600-74661000	Strong transcription	Adipose Nuclei	Adipose
28	chr16:74653600-74669400	Strong transcription	HepG2	liver
29	chr16:74653600-74677800	Weak transcription	Psoas Muscle	Psoas
30	chr16:74653800-74668800	Strong transcription	Spleen	Spleen
31	chr16:74654000-74685800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr16:74654200-74669400	Strong transcription	Fetal Intestine Small	intestine
33	chr16:74654400-74670600	Strong transcription	HMEC	breast
34	chr16:74654400-74689000	Strong transcription	Duodenum Mucosa	Duodenum
35	chr16:74654600-74673400	Strong transcription	Primary B cells from peripheral blood	blood
36	chr16:74654600-74686000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr16:74654600-74687800	Strong transcription	Fetal Muscle Trunk	muscle
38	chr16:74654800-74672200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr16:74655000-74667000	Strong transcription	K562	blood
40	chr16:74655000-74671600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr16:74655200-74661000	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr16:74655200-74667000	Strong transcription	HSMM	muscle
43	chr16:74655200-74667600	Strong transcription	Primary B cells from cord blood	blood
44	chr16:74655200-74668000	Strong transcription	Fetal Brain Female	brain
45	chr16:74655200-74668800	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr16:74655200-74673600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr16:74655200-74688600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr16:74655400-74661200	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr16:74655400-74670600	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr16:74655400-74673600	Strong transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links