Variant report

Variant	rs17050913
Chromosome Location	chr3:50098337-50098338
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1110295	1.00[AMR][1000 genomes]
rs17050885	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17050922	1.00[ASW][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59112948	1.00[AMR][1000 genomes]
rs59325781	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60564525	1.00[AMR][1000 genomes]
rs61689372	1.00[AMR][1000 genomes]
rs72931482	1.00[AMR][1000 genomes]
rs72932915	1.00[AMR][1000 genomes]
rs72932918	1.00[AMR][1000 genomes]
rs72932925	1.00[AMR][1000 genomes]
rs72932949	1.00[AMR][1000 genomes]
rs72932966	1.00[AMR][1000 genomes]
rs72932994	1.00[AMR][1000 genomes]
rs7611074	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv460527	chr3:50028385-50153356	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv590249	chr3:50028385-50153356	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17050913	HEMK	cis	multi-tissue	Pritchard
rs17050913	HEMK1	cis	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50056400-50114400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:50078400-50102400	Weak transcription	Psoas Muscle	Psoas
3	chr3:50082000-50113600	Strong transcription	Primary T cells from cord blood	blood
4	chr3:50082000-50115600	Strong transcription	Fetal Intestine Large	intestine
5	chr3:50082200-50112000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr3:50082200-50116000	Strong transcription	Fetal Muscle Leg	muscle
7	chr3:50082400-50113400	Strong transcription	Primary B cells from cord blood	blood
8	chr3:50082400-50115800	Strong transcription	Fetal Muscle Trunk	muscle
9	chr3:50082400-50116200	Strong transcription	Fetal Thymus	thymus
10	chr3:50082600-50116200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:50083400-50113200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr3:50083800-50111600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr3:50084000-50105200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:50084000-50113400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr3:50084000-50114800	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:50084000-50114800	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr3:50084200-50115000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr3:50084200-50116600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:50084400-50112200	Strong transcription	Primary B cells from peripheral blood	blood
20	chr3:50084400-50115800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:50084600-50104600	Strong transcription	Placenta	Placenta
22	chr3:50084600-50113400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr3:50084600-50114600	Strong transcription	Adipose Nuclei	Adipose
24	chr3:50084800-50113400	Strong transcription	Dnd41	blood
25	chr3:50085000-50113600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:50085000-50114800	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr3:50085000-50115800	Strong transcription	Liver	Liver
28	chr3:50085200-50109200	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr3:50085200-50111600	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr3:50085200-50115800	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr3:50085400-50113800	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr3:50085600-50113200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr3:50086600-50104800	Weak transcription	Stomach Mucosa	stomach
34	chr3:50087200-50115800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr3:50087800-50115800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr3:50088200-50099000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr3:50088200-50115200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:50088400-50115800	Strong transcription	Thymus	Thymus
39	chr3:50088600-50113000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr3:50088600-50115400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr3:50088800-50104800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:50088800-50105400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:50088800-50113600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr3:50089000-50104600	Strong transcription	HSMM	muscle
45	chr3:50089000-50115400	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr3:50089200-50112000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr3:50089200-50112000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:50089200-50113200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr3:50089200-50113400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:50089200-50113600	Strong transcription	Rectal Mucosa Donor 29	rectum

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