Variant report

Variant	rs7259273
Chromosome Location	chr19:40859085-40859086
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40858935..40867508-chr19:40870167..40875772,11	K562	blood:
2	chr19:40857735..40859819-chr19:40860082..40862864,2	K562	blood:

Variant related genes	Relation type
ENSG00000105223	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11083554	0.86[ASN][1000 genomes]
rs12151335	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12459567	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12460555	0.80[EUR][1000 genomes]
rs12460615	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12977474	0.80[EUR][1000 genomes]
rs12985477	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1962639	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1991460	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2368575	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3745195	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4479364	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4490097	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4502340	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4524046	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4802072	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4802076	0.86[ASN][1000 genomes]
rs4803324	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4803325	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4803326	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4803327	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4803328	0.86[ASN][1000 genomes]
rs55710016	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57158010	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58502633	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59263025	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73046335	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7507651	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7508513	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs890773	0.84[EUR][1000 genomes];0.88[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	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
2	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv911706	chr19:40842529-40969203	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	esv2754051	chr19:40848081-40863842	Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv911707	chr19:40855255-40948202	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv911708	chr19:40855255-40982375	Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40855400-40859200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:40855400-40864600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr19:40855600-40859200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr19:40855600-40859800	Weak transcription	Fetal Intestine Small	intestine
5	chr19:40855600-40861400	Weak transcription	Stomach Mucosa	stomach
6	chr19:40855600-40861600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr19:40855600-40861600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr19:40855600-40861600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr19:40855600-40861600	Weak transcription	GM12878-XiMat	blood
10	chr19:40855600-40861800	Weak transcription	Primary T cells from cord blood	blood
11	chr19:40855600-40861800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr19:40855600-40861800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr19:40855600-40861800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr19:40855600-40861800	Weak transcription	Brain Germinal Matrix	brain
15	chr19:40855600-40861800	Weak transcription	Ovary	ovary
16	chr19:40855600-40861800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr19:40855600-40861800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr19:40855600-40862200	Weak transcription	Adipose Nuclei	Adipose
19	chr19:40855600-40862600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr19:40855600-40862800	Weak transcription	Brain Anterior Caudate	brain
21	chr19:40855600-40862800	Weak transcription	Fetal Lung	lung
22	chr19:40855600-40863000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr19:40855600-40863200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr19:40855600-40863400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr19:40855600-40863600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr19:40855600-40863600	Weak transcription	Fetal Brain Female	brain
27	chr19:40855600-40863800	Weak transcription	Liver	Liver
28	chr19:40855600-40864000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:40855600-40864000	Weak transcription	Spleen	Spleen
30	chr19:40855600-40864000	Weak transcription	NH-A	brain
31	chr19:40855600-40864400	Weak transcription	Placenta	Placenta
32	chr19:40855600-40865200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr19:40855600-40865200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr19:40855600-40865200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr19:40855600-40865200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr19:40855600-40865200	Weak transcription	Thymus	Thymus
37	chr19:40855600-40865200	Weak transcription	A549	lung
38	chr19:40855600-40865400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr19:40855600-40865400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr19:40855600-40865400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr19:40855600-40865800	Weak transcription	K562	blood
42	chr19:40855600-40866000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr19:40855600-40866200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr19:40855600-40866200	Weak transcription	Esophagus	oesophagus
45	chr19:40855600-40866600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr19:40855600-40868800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr19:40855600-40868800	Weak transcription	HSMM	muscle
48	chr19:40855600-40869000	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr19:40855600-40869000	Weak transcription	Osteobl	bone
50	chr19:40855600-40870600	Weak transcription	Gastric	stomach

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