Variant report

Variant	rs12609370
Chromosome Location	chr19:41328516-41328517
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	chr19:41167522..41169643-chr19:41327340..41330313,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2545771	0.82[ASN][1000 genomes]
rs2545772	0.82[ASN][1000 genomes]
rs2604864	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833832	chr19:41260363-41334597	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2758500	chr19:41291627-41546068	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2758762	chr19:41291627-41546068	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1066637	chr19:41309211-41597896	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv521459	chr19:41313202-41333284	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv911729	chr19:41321372-41383828	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv2760509	chr19:41325004-41394336	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41315000-41332600	Weak transcription	Aorta	Aorta
2	chr19:41320200-41332800	Weak transcription	HSMMtube	muscle
3	chr19:41322600-41330600	Enhancers	Placenta	Placenta
4	chr19:41324600-41328600	Weak transcription	NH-A	brain
5	chr19:41324600-41332600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr19:41324600-41332600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:41324600-41332600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr19:41324600-41332600	Weak transcription	NHLF	lung
9	chr19:41324800-41328800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:41324800-41332600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr19:41324800-41332600	Weak transcription	Fetal Brain Male	brain
12	chr19:41324800-41332600	Weak transcription	Fetal Brain Female	brain
13	chr19:41324800-41332800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:41324800-41332800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr19:41324800-41332800	Weak transcription	Esophagus	oesophagus
16	chr19:41324800-41337400	Weak transcription	Colonic Mucosa	Colon
17	chr19:41324800-41339200	Weak transcription	Brain Germinal Matrix	brain
18	chr19:41325000-41328600	Weak transcription	Right Atrium	heart
19	chr19:41325000-41337400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr19:41325400-41329800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr19:41325600-41328600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr19:41325600-41337400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr19:41325800-41328600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr19:41325800-41328600	Weak transcription	Brain Angular Gyrus	brain
25	chr19:41325800-41328600	Weak transcription	Brain Anterior Caudate	brain
26	chr19:41325800-41328600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr19:41325800-41328600	Weak transcription	Colon Smooth Muscle	Colon
28	chr19:41325800-41328600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr19:41325800-41328600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr19:41325800-41328600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr19:41325800-41328800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:41325800-41328800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr19:41325800-41328800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr19:41325800-41328800	Weak transcription	Stomach Mucosa	stomach
35	chr19:41325800-41330200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr19:41325800-41331000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr19:41325800-41331200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr19:41325800-41331200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr19:41325800-41332600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr19:41325800-41332600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr19:41325800-41332600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:41325800-41332600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr19:41325800-41332600	Weak transcription	Fetal Stomach	stomach
44	chr19:41325800-41332800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr19:41325800-41332800	Weak transcription	Dnd41	blood
46	chr19:41325800-41332800	Weak transcription	NHDF-Ad	bronchial
47	chr19:41325800-41332800	Weak transcription	Osteobl	bone
48	chr19:41325800-41333000	Weak transcription	Thymus	Thymus
49	chr19:41326000-41331000	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr19:41326000-41332600	Weak transcription	Fetal Thymus	thymus

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