Variant report

Variant	rs17051802
Chromosome Location	chr3:51502137-51502138
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	chr3:51500691..51503377-chr3:51532848..51534533,2	K562	blood:

Variant related genes	Relation type
ENSG00000145041	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12487468	0.94[LWK][hapmap];1.00[YRI][hapmap]
rs1480366	1.00[ASW][hapmap];0.88[LWK][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17051685	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17051799	1.00[ASW][hapmap]
rs17051832	1.00[ASW][hapmap]
rs2170177	1.00[ASW][hapmap];0.88[LWK][hapmap];0.91[YRI][hapmap]
rs4280628	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4974112	1.00[ASW][hapmap];0.94[LWK][hapmap];0.91[YRI][hapmap]
rs57019473	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58075772	1.00[AMR][1000 genomes]
rs58807639	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59307262	1.00[AMR][1000 genomes]
rs60497133	1.00[AMR][1000 genomes]
rs61452834	1.00[AMR][1000 genomes]
rs61578076	1.00[AMR][1000 genomes]
rs72943888	1.00[AMR][1000 genomes]
rs72945711	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72945738	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72945741	1.00[AMR][1000 genomes]
rs72951454	1.00[AMR][1000 genomes]
rs72951466	1.00[AMR][1000 genomes]
rs72951469	1.00[AMR][1000 genomes]
rs72951474	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951478	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951489	1.00[AMR][1000 genomes]
rs72953404	1.00[AMR][1000 genomes]
rs72953419	1.00[AMR][1000 genomes]
rs72953421	1.00[AMR][1000 genomes]
rs753452	0.95[AFR][1000 genomes]
rs880477	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9809757	1.00[ASW][hapmap]
rs9880909	1.00[ASW][hapmap]

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	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17051802	HEMK	cis	multi-tissue	Pritchard
rs17051802	HEMK1	cis	lymphoblastoid	seeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51458200-51515000	Weak transcription	Fetal Brain Male	brain
2	chr3:51458800-51503800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:51467800-51524000	Weak transcription	Small Intestine	intestine
4	chr3:51476000-51506000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:51477200-51515000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:51490400-51515000	Weak transcription	Stomach Mucosa	stomach
7	chr3:51491400-51532800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:51495000-51532600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr3:51495400-51505800	Weak transcription	NHLF	lung
10	chr3:51495400-51513200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:51495600-51505200	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr3:51495600-51505800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:51495600-51508800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:51495600-51509600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr3:51495600-51509600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:51495800-51502200	Strong transcription	Thymus	Thymus
17	chr3:51495800-51502400	Strong transcription	Fetal Muscle Leg	muscle
18	chr3:51495800-51505800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:51495800-51506600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:51495800-51506600	Strong transcription	Adipose Nuclei	Adipose
21	chr3:51495800-51507000	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr3:51495800-51508400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:51495800-51508800	Strong transcription	Duodenum Mucosa	Duodenum
24	chr3:51495800-51510400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:51495800-51510400	Strong transcription	Primary B cells from peripheral blood	blood
26	chr3:51495800-51510400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:51495800-51510600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:51495800-51518200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr3:51495800-51518200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr3:51495800-51526800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr3:51495800-51531800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:51496000-51502200	Strong transcription	Fetal Intestine Large	intestine
33	chr3:51496000-51506000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr3:51496000-51517800	Strong transcription	Fetal Muscle Trunk	muscle
35	chr3:51496000-51518400	Strong transcription	Fetal Stomach	stomach
36	chr3:51496000-51531800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:51496200-51502200	Strong transcription	Pancreas	Pancrea
38	chr3:51496200-51502200	Strong transcription	HUVEC	blood vessel
39	chr3:51496200-51502400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:51496200-51502400	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr3:51496200-51504200	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr3:51496200-51505000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:51496200-51505200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:51496200-51506600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr3:51496200-51506600	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr3:51496200-51506800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr3:51496200-51506800	Strong transcription	Primary B cells from cord blood	blood
48	chr3:51496200-51506800	Strong transcription	Primary T cells from cord blood	blood
49	chr3:51496200-51506800	Strong transcription	Liver	Liver
50	chr3:51496200-51507200	Strong transcription	Cortex derived primary cultured neurospheres	brain

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