Variant report

Variant	rs66899043
Chromosome Location	chr1:113501545-113501546
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr1:113501510-113501624	HepG2	liver:	n/a	n/a
2	MAFF	chr1:113501531-113501620	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113460690..113462402-chr1:113501543..113503150,2	K562	blood:
2	chr1:113498819..113501560-chr8:144951768..144953643,2	MCF-7	breast:
3	chr1:113476476..113482692-chr1:113494893..113501777,18	K562	blood:
4	chr1:113500281..113502196-chr1:113505336..113508052,2	K562	blood:
5	chr1:113250102..113252042-chr1:113500329..113503036,2	K562	blood:

No data

Variant related genes	Relation type
SLC16A1	TF binding region
ENSG00000227184	Chromatin interaction
ENSG00000155380	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11102560	0.91[EUR][1000 genomes]
rs12064292	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12126192	0.91[EUR][1000 genomes]
rs17440299	0.95[EUR][1000 genomes]
rs17493313	0.95[EUR][1000 genomes]
rs17494145	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17494180	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1936311	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2149036	0.95[EUR][1000 genomes]
rs28556822	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3849174	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4838971	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4839270	0.95[EUR][1000 genomes]
rs4839272	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4839276	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55768060	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55982206	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55992320	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56007797	0.94[EUR][1000 genomes]
rs56019044	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56220197	0.90[EUR][1000 genomes]
rs6676446	0.88[EUR][1000 genomes]
rs6676864	0.91[EUR][1000 genomes]
rs72683432	0.93[EUR][1000 genomes]
rs72683434	0.94[EUR][1000 genomes]
rs72683442	0.95[EUR][1000 genomes]
rs72683453	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72683454	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72683459	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72683463	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7518984	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7524567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7536532	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7540321	0.88[EUR][1000 genomes]
rs7542229	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7545602	0.94[EUR][1000 genomes]
rs7548109	0.88[EUR][1000 genomes]
rs7550843	0.94[EUR][1000 genomes]
rs7552903	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9429505	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9429709	0.94[EUR][1000 genomes]
rs9429710	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active 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 miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised 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 miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv1004102	chr1:113295805-113551210	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
10	esv3399982	chr1:113358580-113542255	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
11	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
12	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
13	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer 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	59 gene(s)	inside rSNPs	diseases
14	esv1827123	chr1:113496841-113531848	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113496200-113501800	Active TSS	Right Ventricle	heart
2	chr1:113496600-113501600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:113499600-113525600	Weak transcription	Spleen	Spleen
4	chr1:113499800-113501800	Flanking Active TSS	Dnd41	blood
5	chr1:113499800-113502200	Enhancers	Small Intestine	intestine
6	chr1:113499800-113514800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:113500000-113501600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr1:113500200-113501600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:113500200-113501800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr1:113500200-113502400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:113500200-113509800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:113500200-113524600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:113500200-113528600	Weak transcription	Lung	lung
14	chr1:113500200-113529000	Weak transcription	Esophagus	oesophagus
15	chr1:113500400-113501800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr1:113500400-113520200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:113500600-113501600	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr1:113500600-113501600	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr1:113500600-113501600	Enhancers	Primary B cells from cord blood	blood
20	chr1:113500600-113502000	Enhancers	Fetal Brain Male	brain
21	chr1:113500600-113507000	Weak transcription	Ovary	ovary
22	chr1:113500600-113507200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:113500600-113510000	Weak transcription	Fetal Intestine Large	intestine
24	chr1:113500600-113510200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr1:113500600-113515000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:113500600-113535400	Weak transcription	Aorta	Aorta
27	chr1:113500800-113501600	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr1:113500800-113501600	Enhancers	Primary B cells from peripheral blood	blood
29	chr1:113500800-113501600	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr1:113500800-113501600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:113500800-113501600	Enhancers	Psoas Muscle	Psoas
32	chr1:113500800-113501800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:113500800-113501800	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr1:113500800-113502000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr1:113500800-113502000	Enhancers	Fetal Muscle Trunk	muscle
36	chr1:113500800-113502200	Enhancers	Primary T cells fromperipheralblood	blood
37	chr1:113500800-113502400	Weak transcription	Brain Germinal Matrix	brain
38	chr1:113500800-113502400	Active TSS	NHEK	skin
39	chr1:113500800-113502800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:113500800-113503000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:113500800-113503400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:113500800-113503400	Weak transcription	Fetal Lung	lung
43	chr1:113500800-113505600	Weak transcription	Liver	Liver
44	chr1:113500800-113506200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:113500800-113507000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:113500800-113507200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr1:113500800-113507400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr1:113500800-113509600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:113500800-113509800	Weak transcription	Fetal Intestine Small	intestine
50	chr1:113500800-113510200	Weak transcription	HSMMtube	muscle

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