Variant report

Variant	rs10407011
Chromosome Location	chr19:36610785-36610786
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr19:36610727-36611361	HEK293	kidney:	n/a	n/a
2	POLR2A	chr19:36610078-36612354	HepG2	liver:	n/a	n/a
3	FOXA2	chr19:36610596-36611640	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36601583..36604210-chr19:36609754..36611847,2	MCF-7	breast:
2	chr19:36604785..36608680-chr19:36610341..36613498,5	K562	blood:

Variant related genes	Relation type
POLR2I	TF binding region
TBCB	TF binding region
ENSG00000105258	Chromatin interaction
ENSG00000105261	Chromatin interaction
ENSG00000105254	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10414877	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10420353	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10421966	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10423651	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10425692	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12462432	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12462632	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12462674	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12972490	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12972660	0.87[ASN][1000 genomes]
rs12976505	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12976812	0.87[EUR][1000 genomes]
rs12977802	0.86[ASN][1000 genomes]
rs12977814	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12978482	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12981654	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17639286	0.87[EUR][1000 genomes]
rs2023865	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2072606	0.93[ASN][1000 genomes]
rs2075474	1.00[ASN][1000 genomes]
rs2239510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35125548	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35875194	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3826995	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4461192	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4806279	0.87[ASN][1000 genomes]
rs4806280	0.88[ASN][1000 genomes]
rs71337524	0.82[EUR][1000 genomes]
rs721542	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7259592	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7260609	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8100250	0.91[ASN][1000 genomes]
rs8103569	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv833815	chr19:36519803-36624936	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36607200-36612200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:36607200-36612200	Weak transcription	Aorta	Aorta
3	chr19:36607200-36618600	Weak transcription	Psoas Muscle	Psoas
4	chr19:36607400-36612800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:36607400-36612800	Weak transcription	HSMMtube	muscle
6	chr19:36607400-36613800	Weak transcription	HSMM	muscle
7	chr19:36607400-36617000	Strong transcription	Thymus	Thymus
8	chr19:36607400-36617200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr19:36607400-36618400	Weak transcription	Stomach Mucosa	stomach
10	chr19:36607400-36618600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr19:36607400-36618800	Weak transcription	Small Intestine	intestine
12	chr19:36607600-36610800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:36607600-36611000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr19:36607600-36611000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr19:36607600-36611200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr19:36607600-36612000	Genic enhancers	Brain Inferior Temporal Lobe	brain
17	chr19:36607600-36612400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr19:36607600-36612400	Strong transcription	NHEK	skin
19	chr19:36607600-36614800	Weak transcription	HUVEC	blood vessel
20	chr19:36607600-36615400	Strong transcription	Fetal Lung	lung
21	chr19:36607600-36616000	Weak transcription	Fetal Kidney	kidney
22	chr19:36607600-36617000	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr19:36607600-36617000	Strong transcription	Primary T cells from cord blood	blood
24	chr19:36607600-36617000	Strong transcription	Brain Germinal Matrix	brain
25	chr19:36607600-36617000	Strong transcription	Fetal Muscle Leg	muscle
26	chr19:36607600-36617000	Strong transcription	Osteobl	bone
27	chr19:36607600-36617200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr19:36607600-36617200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:36607600-36617200	Strong transcription	Placenta	Placenta
30	chr19:36607600-36618400	Weak transcription	K562	blood
31	chr19:36607800-36610800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:36607800-36617000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr19:36608000-36610800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr19:36608000-36611600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
35	chr19:36608000-36613200	Strong transcription	Fetal Thymus	thymus
36	chr19:36608000-36616800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:36608000-36617000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr19:36608000-36617000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr19:36608000-36617000	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr19:36608000-36617200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr19:36608000-36617200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr19:36608000-36617200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr19:36608000-36617200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr19:36608000-36617200	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr19:36608000-36617200	Strong transcription	Adipose Nuclei	Adipose
46	chr19:36608000-36617200	Strong transcription	Spleen	Spleen
47	chr19:36608000-36617200	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr19:36608000-36617800	Strong transcription	Fetal Muscle Trunk	muscle
49	chr19:36608000-36618000	Strong transcription	Fetal Stomach	stomach
50	chr19:36608200-36615800	Weak transcription	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links