Variant report

Variant	rs7250966
Chromosome Location	chr19:39887155-39887156
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39879787..39883867-chr19:39884525..39889123,13	K562	blood:

Variant related genes	Relation type
ENSG00000063322	Chromatin interaction
ENSG00000006712	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10402122	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10403504	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10412877	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10414216	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10423565	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10425594	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11665856	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11672863	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12973448	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12977767	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs251864	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3843755	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4803235	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs565545	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7253005	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7256692	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[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	nsv911679	chr19:39735106-39924129	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
2	nsv1058514	chr19:39744112-39902580	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv911680	chr19:39792460-39924129	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	194 gene(s)	inside rSNPs	diseases
4	nsv870133	chr19:39822160-39938468	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
5	nsv911682	chr19:39847132-39914748	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS 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	179 gene(s)	inside rSNPs	diseases
6	nsv911683	chr19:39847132-39924129	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
7	nsv911684	chr19:39886218-39923863	Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39883000-39888000	Weak transcription	Psoas Muscle	Psoas
2	chr19:39883000-39888200	Weak transcription	Right Atrium	heart
3	chr19:39883000-39888600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr19:39883000-39888600	Weak transcription	Small Intestine	intestine
5	chr19:39883000-39891800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:39883200-39887800	Weak transcription	HSMM	muscle
7	chr19:39883200-39888000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:39883200-39888000	Strong transcription	Fetal Intestine Small	intestine
9	chr19:39883200-39888200	Weak transcription	Fetal Heart	heart
10	chr19:39883200-39888200	Weak transcription	HUVEC	blood vessel
11	chr19:39883200-39888200	Weak transcription	NHEK	skin
12	chr19:39883200-39888600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr19:39883200-39891600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr19:39883200-39892400	Weak transcription	Fetal Brain Male	brain
15	chr19:39883200-39892400	Weak transcription	Fetal Kidney	kidney
16	chr19:39883400-39887200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr19:39883400-39887800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr19:39883400-39888000	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr19:39883400-39888000	Strong transcription	Fetal Stomach	stomach
20	chr19:39883400-39888200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr19:39883800-39888000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr19:39884000-39887400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr19:39884000-39888000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr19:39884000-39888000	Strong transcription	Fetal Intestine Large	intestine
25	chr19:39884000-39888000	Strong transcription	Fetal Muscle Trunk	muscle
26	chr19:39884000-39888000	Strong transcription	Placenta	Placenta
27	chr19:39884000-39888000	Strong transcription	Thymus	Thymus
28	chr19:39884000-39888200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr19:39884200-39887200	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr19:39884200-39887200	Strong transcription	Right Ventricle	heart
31	chr19:39884200-39888000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr19:39884200-39888000	Strong transcription	Primary T cells from cord blood	blood
33	chr19:39884200-39888000	Strong transcription	Lung	lung
34	chr19:39884200-39888000	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr19:39884200-39888200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr19:39884200-39889600	Strong transcription	Brain Germinal Matrix	brain
37	chr19:39884400-39888000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr19:39884600-39887200	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr19:39884600-39888200	Strong transcription	Brain Anterior Caudate	brain
40	chr19:39884600-39888400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr19:39884800-39887200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr19:39884800-39887600	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr19:39884800-39887800	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr19:39884800-39887800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr19:39884800-39887800	Weak transcription	Hela-S3	cervix
46	chr19:39884800-39887800	Weak transcription	HepG2	liver
47	chr19:39884800-39888000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr19:39884800-39888000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr19:39884800-39888000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr19:39884800-39888000	Weak transcription	Esophagus	oesophagus

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