Variant report

Variant	rs3893695
Chromosome Location	chr5:154100886-154100887
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:6)
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	chr5:154100817-154100990	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:154100043..154103017-chr5:154106751..154108320,2	MCF-7	breast:
2	chr5:154094980..154099669-chr5:154100120..154102766,5	MCF-7	breast:
3	chr5:154096853..154100003-chr5:154100252..154103501,3	K562	blood:
4	chr5:154100501..154102218-chr5:154144697..154147317,2	K562	blood:
5	chr5:154084447..154086272-chr5:154100448..154103273,2	K562	blood:
6	chr5:154100038..154105405-chr5:154105836..154109183,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272197	TF binding region
ENSG00000272197	Chromatin interaction
ENSG00000241187	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10039709	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10051493	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10058604	0.97[ASN][1000 genomes]
rs10073561	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1972618	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2052448	0.80[EUR][1000 genomes]
rs4117784	1.00[ASN][1000 genomes]
rs4958382	0.82[EUR][1000 genomes]
rs4958384	0.80[EUR][1000 genomes]
rs4958385	0.81[EUR][1000 genomes]
rs4958387	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4958759	0.81[EUR][1000 genomes]
rs4958761	0.82[EUR][1000 genomes]
rs4958765	0.95[ASN][1000 genomes]
rs4958767	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6580102	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6580103	0.80[EUR][1000 genomes]
rs6580104	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6580107	0.80[EUR][1000 genomes]
rs6580108	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6580109	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6580110	0.85[EUR][1000 genomes]
rs6580111	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6868098	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6878543	0.81[AMR][1000 genomes]
rs749777	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7710331	0.81[EUR][1000 genomes]
rs7715775	0.80[EUR][1000 genomes]
rs7721183	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7736062	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9324791	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9324792	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs965235	0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021153	chr5:154099869-154147970	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154074200-154108600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr5:154074200-154120000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:154092600-154101200	Weak transcription	Psoas Muscle	Psoas
4	chr5:154093400-154103400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr5:154093600-154101400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:154093600-154103200	Weak transcription	Small Intestine	intestine
7	chr5:154094200-154103400	Weak transcription	Colonic Mucosa	Colon
8	chr5:154094400-154101400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:154094400-154102600	Weak transcription	Fetal Intestine Small	intestine
10	chr5:154094400-154103400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr5:154094400-154103400	Weak transcription	Esophagus	oesophagus
12	chr5:154094400-154104200	Weak transcription	Aorta	Aorta
13	chr5:154094600-154103200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr5:154094600-154106600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr5:154094800-154102000	Weak transcription	Fetal Intestine Large	intestine
16	chr5:154097200-154101000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:154097200-154102600	Weak transcription	Liver	Liver
18	chr5:154097200-154102800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr5:154097400-154102800	Weak transcription	Gastric	stomach
20	chr5:154097800-154107800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:154098400-154101000	Weak transcription	HepG2	liver
22	chr5:154098600-154102800	Weak transcription	Left Ventricle	heart
23	chr5:154098600-154104200	Weak transcription	Right Ventricle	heart
24	chr5:154098800-154101000	Weak transcription	Fetal Heart	heart
25	chr5:154098800-154101600	Weak transcription	Pancreas	Pancrea
26	chr5:154099000-154103600	Weak transcription	Adipose Nuclei	Adipose
27	chr5:154099800-154101000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr5:154099800-154101000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr5:154100000-154101000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr5:154100000-154101400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr5:154100000-154101400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:154100000-154101400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr5:154100000-154102000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:154100200-154101000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:154100200-154102000	Enhancers	H9 Cell Line	embryonic stem cell
36	chr5:154100400-154102800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:154100400-154104600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr5:154100600-154101400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr5:154100600-154101400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:154100600-154102200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:154100800-154102000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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