Variant report

Variant	rs1749415
Chromosome Location	chr1:155825855-155825856
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr1:155825795-155825901	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155823442..155829143-chr1:155879989..155882670,6	MCF-7	breast:
2	chr1:155825653..155829252-chr1:155877943..155882760,5	MCF-7	breast:
3	chr1:155824896..155829386-chr1:155902844..155905236,4	MCF-7	breast:
4	chr1:155821775..155825361-chr1:155825507..155828654,6	MCF-7	breast:
5	chr1:155825368..155829605-chr1:155879516..155883021,7	K562	blood:
6	chr1:155825171..155830547-chr1:155878470..155884979,12	K562	blood:
7	chr1:155806357..155807904-chr1:155825456..155826957,2	K562	blood:

No data

Variant related genes	Relation type
GON4L	TF binding region
SYT11	TF binding region
ENSG00000132680	Chromatin interaction
ENSG00000116580	Chromatin interaction
ENSG00000143622	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1094462	1.00[CEU][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs11803678	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13374129	0.80[EUR][1000 genomes]
rs13376121	1.00[EUR][1000 genomes]
rs13376235	1.00[EUR][1000 genomes]
rs1624846	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16837037	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs16837063	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17370773	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1749417	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1749421	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1765284	0.80[AMR][1000 genomes]
rs2363012	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2477541	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2686255	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28574887	0.80[EUR][1000 genomes]
rs35044707	0.80[EUR][1000 genomes]
rs4253908	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4612618	0.80[EUR][1000 genomes]
rs4933	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4971065	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4971106	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs552778	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs56758819	0.80[EUR][1000 genomes]
rs59706606	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs59791187	0.80[EUR][1000 genomes]
rs598176	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs621181	0.85[CEU][hapmap];1.00[TSI][hapmap]
rs6684460	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs682020	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs708612	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73001021	0.80[EUR][1000 genomes]
rs7525057	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs7530726	0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs822016	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs822018	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs822019	1.00[CEU][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs822020	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs822022	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs822482	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs822488	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs822489	0.95[AFR][1000 genomes]
rs822495	1.00[CEU][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs822497	1.00[CEU][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs822499	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs822500	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs822523	1.00[EUR][1000 genomes]
rs9427221	0.88[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1003170	chr1:155762204-155836564	Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155792200-155826000	Weak transcription	Stomach Mucosa	stomach
2	chr1:155792400-155826600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:155803800-155826000	Weak transcription	Right Atrium	heart
4	chr1:155808000-155826000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:155813200-155826200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:155813600-155826200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:155813800-155826000	Weak transcription	Right Ventricle	heart
8	chr1:155815800-155826000	Weak transcription	Psoas Muscle	Psoas
9	chr1:155823400-155826000	Weak transcription	Small Intestine	intestine
10	chr1:155823600-155826000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:155823600-155826000	Weak transcription	Brain Angular Gyrus	brain
12	chr1:155823600-155826000	Weak transcription	Pancreas	Pancrea
13	chr1:155823600-155826000	Weak transcription	HMEC	breast
14	chr1:155823600-155826400	Weak transcription	Aorta	Aorta
15	chr1:155823600-155826400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:155823800-155826000	Weak transcription	Brain Substantia Nigra	brain
17	chr1:155823800-155826000	Weak transcription	Gastric	stomach
18	chr1:155823800-155826000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:155823800-155826000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:155824400-155826000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:155824400-155826000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:155824400-155826000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:155824400-155826000	Weak transcription	Esophagus	oesophagus
24	chr1:155824600-155826000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:155824600-155826000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr1:155824600-155826000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:155824600-155826000	Weak transcription	Brain Anterior Caudate	brain
28	chr1:155824600-155826000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:155824600-155826000	Weak transcription	HUVEC	blood vessel
30	chr1:155824600-155826200	Weak transcription	Fetal Kidney	kidney
31	chr1:155824800-155826000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:155824800-155826000	Weak transcription	Adipose Nuclei	Adipose
33	chr1:155824800-155826000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr1:155824800-155826000	Weak transcription	Fetal Brain Female	brain
35	chr1:155824800-155826000	Weak transcription	Lung	lung
36	chr1:155824800-155826000	Weak transcription	Ovary	ovary
37	chr1:155824800-155826000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:155824800-155826000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr1:155824800-155826600	Weak transcription	Left Ventricle	heart
40	chr1:155825000-155826000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:155825000-155826000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr1:155825000-155826000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:155825000-155826000	Weak transcription	Fetal Lung	lung
44	chr1:155825000-155826000	Weak transcription	HSMMtube	muscle
45	chr1:155825000-155826000	Weak transcription	NHLF	lung
46	chr1:155825000-155826200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:155825200-155826000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:155825200-155826000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:155825200-155826000	Enhancers	Colon Smooth Muscle	Colon
50	chr1:155825200-155826000	Weak transcription	NHDF-Ad	bronchial

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