Variant report

Variant	rs60173347
Chromosome Location	chr19:44517341-44517342
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44515991..44517506-chr19:44522441..44523995,2	K562	blood:
2	chr19:44510538..44512317-chr19:44516235..44517741,2	K562	blood:
3	chr19:44508681..44513697-chr19:44514534..44518037,6	K562	blood:
4	chr19:44516780..44518514-chr19:44607954..44609959,2	K562	blood:

Variant related genes	Relation type
ENSG00000159882	Chromatin interaction
ENSG00000267680	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11879632	1.00[AMR][1000 genomes]
rs11880072	1.00[AMR][1000 genomes]
rs11882412	1.00[AMR][1000 genomes]
rs59559013	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59716280	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60279717	1.00[AMR][1000 genomes]
rs73932780	1.00[AMR][1000 genomes]
rs73932818	1.00[AMR][1000 genomes]
rs73932830	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73933979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73933982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73933983	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73933984	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73934451	1.00[AMR][1000 genomes]
rs73934470	1.00[AMR][1000 genomes]
rs73934471	1.00[AMR][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	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44509200-44520600	ZNF genes & repeats	Liver	Liver
2	chr19:44509400-44518200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:44509800-44517400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
4	chr19:44510000-44517400	ZNF genes & repeats	Primary T cells from cord blood	blood
5	chr19:44510200-44517400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
6	chr19:44510200-44517600	ZNF genes & repeats	Primary B cells from cord blood	blood
7	chr19:44510400-44517600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
8	chr19:44510400-44517600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr19:44510600-44517400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
10	chr19:44510600-44517600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr19:44512000-44517400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr19:44512600-44517400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:44513000-44517400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
14	chr19:44515000-44517600	Weak transcription	HepG2	liver
15	chr19:44515400-44518600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:44515400-44529000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr19:44515800-44518400	Weak transcription	Fetal Stomach	stomach
18	chr19:44516000-44517600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr19:44516200-44517800	Weak transcription	Fetal Thymus	thymus
20	chr19:44516400-44518000	Weak transcription	Placenta	Placenta
21	chr19:44516400-44518200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr19:44516400-44518400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr19:44516400-44518800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr19:44516400-44519200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:44516400-44519800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr19:44516600-44518000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr19:44516800-44518000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:44516800-44518200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr19:44516800-44519000	Weak transcription	Fetal Brain Male	brain
30	chr19:44516800-44519600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr19:44516800-44519600	Weak transcription	Fetal Kidney	kidney
32	chr19:44517000-44528600	Weak transcription	Dnd41	blood
33	chr19:44517200-44518000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr19:44517200-44518600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr19:44517200-44520000	Weak transcription	Left Ventricle	heart
36	chr19:44517200-44520200	Weak transcription	HSMM	muscle
37	chr19:44517200-44521600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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