Variant report

Variant	rs17014983
Chromosome Location	chr4:89971672-89971673
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:89970076..89973919-chr4:89975021..89978811,7	K562	blood:
2	chr4:89967506..89970180-chr4:89970211..89972228,2	K562	blood:

Variant related genes	Relation type
ENSG00000138640	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10516824	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs16996151	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17014896	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs17014898	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs17014901	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs17014931	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17014934	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs17014939	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17014952	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17014954	1.00[AFR][1000 genomes]
rs17014962	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17014966	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17014977	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17015012	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs56749689	1.00[AFR][1000 genomes]
rs60843670	1.00[AFR][1000 genomes]
rs61049728	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009354	chr4:89725914-89985155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv461577	chr4:89904124-89986326	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv594807	chr4:89904124-89986326	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1002448	chr4:89933385-90128133	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:89937200-89975600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:89944200-89978000	Weak transcription	Pancreas	Pancrea
3	chr4:89946200-89972800	Weak transcription	A549	lung
4	chr4:89958000-89972200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:89958200-89974400	Weak transcription	Aorta	Aorta
6	chr4:89959000-89972200	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:89959000-89972400	Weak transcription	Fetal Intestine Small	intestine
8	chr4:89959000-89972600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr4:89959000-89975400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:89959200-89974400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:89959400-89972200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:89963200-89975800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:89966000-89971800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:89966000-89972000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:89970600-89975200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:89971000-89974000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:89971200-89974400	Weak transcription	HUVEC	blood vessel
18	chr4:89971400-89972000	Enhancers	Ovary	ovary
19	chr4:89971600-89973000	Weak transcription	Psoas Muscle	Psoas
20	chr4:89971600-89974400	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links