Variant report

Variant	rs6508757
Chromosome Location	chr19:38522192-38522193
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38521721..38524146-chr19:38525357..38527212,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12973690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12977585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12980972	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12980973	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16979801	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs34417240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34846275	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34900817	0.84[ASN][1000 genomes]
rs34943246	0.81[ASN][1000 genomes]
rs35445607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36106417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58236040	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61355521	0.84[ASN][1000 genomes]
rs7508583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8106091	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs8110656	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9304573	0.92[EUR][1000 genomes];0.94[ASN][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	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv911656	chr19:38505037-38539988	Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1060359	chr19:38512719-38552438	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6508757	HKR1	cis	lymphoblastoid	seeQTL

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38495400-38522800	Weak transcription	Aorta	Aorta
2	chr19:38495400-38526400	Weak transcription	Ovary	ovary
3	chr19:38500600-38524200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr19:38502400-38523000	Weak transcription	Liver	Liver
5	chr19:38503800-38523800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr19:38506600-38526200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr19:38508600-38537000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr19:38510000-38524200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:38513800-38524000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr19:38514200-38523200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr19:38514200-38523200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr19:38514200-38523600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr19:38514400-38524200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:38514600-38523800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr19:38514600-38524200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr19:38514600-38524200	Weak transcription	Right Atrium	heart
17	chr19:38514600-38530200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr19:38514800-38524000	Weak transcription	Adipose Nuclei	Adipose
19	chr19:38514800-38526400	Weak transcription	Left Ventricle	heart
20	chr19:38514800-38537000	Weak transcription	Colonic Mucosa	Colon
21	chr19:38515000-38522600	Weak transcription	Fetal Heart	heart
22	chr19:38515000-38523600	Weak transcription	Fetal Thymus	thymus
23	chr19:38515000-38524600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr19:38515000-38526600	Weak transcription	Right Ventricle	heart
25	chr19:38515600-38524800	Weak transcription	Fetal Kidney	kidney
26	chr19:38515800-38523600	Weak transcription	Stomach Mucosa	stomach
27	chr19:38515800-38526000	Weak transcription	HepG2	liver
28	chr19:38516000-38524000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr19:38516000-38524200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr19:38516200-38524000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr19:38516200-38524000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr19:38516200-38528000	Weak transcription	Fetal Brain Female	brain
33	chr19:38516400-38524400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr19:38516800-38524400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr19:38516800-38526600	Weak transcription	HMEC	breast
36	chr19:38516800-38536200	Weak transcription	Spleen	Spleen
37	chr19:38517000-38524600	Weak transcription	Brain Anterior Caudate	brain
38	chr19:38517000-38526800	Weak transcription	Brain Angular Gyrus	brain
39	chr19:38517000-38526800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr19:38517000-38530800	Weak transcription	NHEK	skin
41	chr19:38517000-38537000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr19:38517200-38523600	Weak transcription	Placenta	Placenta
43	chr19:38517200-38524000	Weak transcription	Pancreas	Pancrea
44	chr19:38517200-38524600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr19:38517200-38526200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr19:38517400-38526200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr19:38517400-38526400	Weak transcription	Psoas Muscle	Psoas
48	chr19:38518200-38523000	Genic enhancers	Primary B cells from peripheral blood	blood
49	chr19:38518400-38524000	Weak transcription	Small Intestine	intestine
50	chr19:38518600-38522600	Strong transcription	Fetal Stomach	stomach

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