Variant report

Variant	rs16941768
Chromosome Location	chr17:45340266-45340267
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:45340195-45340330	HUVEC	blood vessel:	n/a	n/a
2	EBF1	chr17:45339846-45340331	GM12878	blood:	n/a	chr17:45340055-45340066
3	POLR2A	chr17:45339823-45340742	HUVEC	blood vessel:	n/a	n/a
4	RCOR1	chr17:45340061-45340306	GM12878	blood:	n/a	n/a
5	SMC3	chr17:45340078-45340369	GM12878	blood:	n/a	n/a
6	EBF1	chr17:45339828-45340295	GM12878	blood:	n/a	chr17:45340055-45340066

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45312410..45314597-chr17:45339201..45341519,2	K562	blood:
2	chr17:45339119..45341339-chr17:45349037..45350870,2	K562	blood:

Variant related genes	Relation type
RNU7-186P	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10514928	0.91[JPT][hapmap]
rs11649785	0.86[ASN][1000 genomes]
rs1806687	0.91[ASN][1000 genomes]
rs3744453	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3956021	0.91[JPT][hapmap]
rs55845779	0.88[ASN][1000 genomes]
rs55846810	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56187467	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56194063	0.87[EUR][1000 genomes]
rs56225350	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs58365772	0.87[EUR][1000 genomes]
rs58611856	0.90[EUR][1000 genomes]
rs58847127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58875262	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7217214	0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs73324412	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs884696	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs951351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs988684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45333200-45344600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr17:45334000-45345800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr17:45335600-45340400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr17:45335600-45343200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr17:45335800-45341200	Weak transcription	HSMMtube	muscle
6	chr17:45335800-45342600	Weak transcription	NHLF	lung
7	chr17:45335800-45343200	Weak transcription	Right Atrium	heart
8	chr17:45335800-45343600	Weak transcription	Aorta	Aorta
9	chr17:45336000-45346800	Weak transcription	Fetal Heart	heart
10	chr17:45336200-45342000	Weak transcription	HSMM	muscle
11	chr17:45336200-45342600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr17:45336200-45343400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr17:45336400-45341000	Weak transcription	K562	blood
14	chr17:45336400-45341400	Weak transcription	NHDF-Ad	bronchial
15	chr17:45336400-45342600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr17:45336400-45342800	Weak transcription	NH-A	brain
17	chr17:45336400-45342800	Weak transcription	Osteobl	bone
18	chr17:45337200-45342000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:45338000-45352200	Weak transcription	Fetal Muscle Leg	muscle
20	chr17:45338800-45340400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr17:45338800-45340400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr17:45339200-45341600	Enhancers	HUVEC	blood vessel
23	chr17:45339400-45340600	Enhancers	Colon Smooth Muscle	Colon
24	chr17:45339400-45345000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr17:45339600-45340600	Enhancers	Spleen	Spleen
26	chr17:45339600-45341400	Enhancers	GM12878-XiMat	blood
27	chr17:45339800-45343200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr17:45340000-45340400	Enhancers	Adipose Nuclei	Adipose
29	chr17:45340000-45340600	Enhancers	Left Ventricle	heart
30	chr17:45340000-45340600	Enhancers	Rectal Smooth Muscle	rectum
31	chr17:45340000-45340800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr17:45340200-45340600	Enhancers	Primary B cells from peripheral blood	blood
33	chr17:45340200-45342800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links