Variant report

Variant	rs10403646
Chromosome Location	chr19:40554978-40554979
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	chr19:40554295..40556265-chr19:40559621..40562179,2	K562	blood:
2	chr19:40554959..40556477-chr19:40565054..40566887,2	K562	blood:

Variant related genes	Relation type
ENSG00000128000	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10420514	1.00[AFR][1000 genomes]
rs10423298	0.83[AFR][1000 genomes]
rs10427117	1.00[AMR][1000 genomes]
rs11883159	0.86[AFR][1000 genomes]
rs13382054	0.83[AFR][1000 genomes]
rs234297	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs234312	0.90[AMR][1000 genomes]
rs234327	0.81[AMR][1000 genomes]
rs2542302	0.90[AMR][1000 genomes]
rs28776318	1.00[AMR][1000 genomes]
rs28832070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs337795	0.84[AFR][1000 genomes]
rs61424085	1.00[AMR][1000 genomes]
rs7245930	1.00[AMR][1000 genomes]
rs7250945	1.00[AMR][1000 genomes]
rs7257627	1.00[AMR][1000 genomes]
rs7258111	0.81[AMR][1000 genomes]
rs7258718	1.00[AMR][1000 genomes]
rs73930678	1.00[AMR][1000 genomes]
rs73930679	1.00[AMR][1000 genomes]
rs8111741	0.83[AFR][1000 genomes]
rs9783944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers 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	43 gene(s)	inside rSNPs	diseases
2	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40549000-40556800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr19:40549000-40556800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:40549000-40559800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:40549200-40555200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr19:40549200-40555800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:40549200-40556400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:40549200-40556800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:40549200-40556800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:40549200-40556800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr19:40549200-40556800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:40549200-40556800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:40549200-40556800	ZNF genes & repeats	Brain Germinal Matrix	brain
13	chr19:40549200-40556800	ZNF genes & repeats	Fetal Brain Female	brain
14	chr19:40549200-40556800	ZNF genes & repeats	Fetal Kidney	kidney
15	chr19:40549200-40556800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
16	chr19:40549200-40557800	ZNF genes & repeats	Liver	Liver
17	chr19:40549400-40556800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr19:40549400-40556800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr19:40549400-40556800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
20	chr19:40549400-40556800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:40549600-40556800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr19:40549600-40556800	Strong transcription	Rectal Smooth Muscle	rectum
23	chr19:40549800-40556800	ZNF genes & repeats	A549	lung
24	chr19:40549800-40557000	ZNF genes & repeats	GM12878-XiMat	blood
25	chr19:40550000-40556000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:40550000-40556000	Strong transcription	Fetal Thymus	thymus
27	chr19:40550000-40556800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr19:40550000-40561200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:40550400-40557000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr19:40550600-40556800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr19:40550600-40556800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr19:40550600-40556800	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr19:40550600-40560600	Weak transcription	Stomach Mucosa	stomach
34	chr19:40551000-40555000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
35	chr19:40551000-40556600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr19:40551200-40555000	Strong transcription	Brain Cingulate Gyrus	brain
37	chr19:40551200-40555800	Strong transcription	Brain Angular Gyrus	brain
38	chr19:40551200-40556800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr19:40551200-40556800	ZNF genes & repeats	Fetal Brain Male	brain
40	chr19:40551200-40556800	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr19:40551400-40555800	Strong transcription	Stomach Smooth Muscle	stomach
42	chr19:40551400-40556200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:40551400-40556800	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr19:40551400-40556800	Strong transcription	Right Ventricle	heart
45	chr19:40551600-40556800	Strong transcription	Primary B cells from peripheral blood	blood
46	chr19:40551600-40556800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
47	chr19:40551600-40556800	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr19:40551600-40556800	ZNF genes & repeats	Aorta	Aorta
49	chr19:40551600-40556800	ZNF genes & repeats	Fetal Intestine Small	intestine
50	chr19:40551800-40556000	Strong transcription	HSMMtube	muscle

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