Variant report

Variant	rs2267590
Chromosome Location	chr19:36362724-36362725
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:36359233..36364587-chr19:36367940..36372688,7	K562	blood:
2	chr19:36361275..36362791-chr19:36390518..36392697,2	K562	blood:
3	chr19:36359256..36363302-chr19:36368429..36371554,3	K562	blood:

Variant related genes	Relation type
ENSG00000167604	Chromatin interaction
ENSG00000105290	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56006731	0.83[AMR][1000 genomes]
rs56013068	0.83[AMR][1000 genomes]
rs56212006	0.83[AMR][1000 genomes]
rs60092221	1.00[ASN][1000 genomes]
rs60593372	0.83[AMR][1000 genomes]
rs61360277	0.83[AMR][1000 genomes]
rs7253616	1.00[ASN][1000 genomes]
rs7260613	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs73928357	0.83[AMR][1000 genomes]
rs73928362	0.83[AMR][1000 genomes]
rs8106827	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	esv3397651	chr19:36326933-36377725	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
9	nsv911639	chr19:36342909-36365985	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv911640	chr19:36353880-36365985	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36359800-36370200	Weak transcription	HSMMtube	muscle
2	chr19:36360200-36379000	Weak transcription	Aorta	Aorta
3	chr19:36361000-36362800	Genic enhancers	Brain Substantia Nigra	brain
4	chr19:36361000-36389000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:36361200-36365200	Weak transcription	Gastric	stomach
6	chr19:36361200-36370400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr19:36361200-36370400	Weak transcription	NH-A	brain
8	chr19:36361200-36389200	Weak transcription	Right Atrium	heart
9	chr19:36361400-36364400	Weak transcription	Pancreas	Pancrea
10	chr19:36361400-36364600	Weak transcription	Brain Angular Gyrus	brain
11	chr19:36361400-36370200	Strong transcription	Brain Anterior Caudate	brain
12	chr19:36361400-36370200	Weak transcription	A549	lung
13	chr19:36361600-36362800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:36361600-36362800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:36361600-36364600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr19:36361600-36365400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:36361800-36362800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr19:36361800-36363400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr19:36361800-36363400	Strong transcription	Fetal Stomach	stomach
20	chr19:36361800-36370400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr19:36361800-36370400	Strong transcription	Fetal Brain Female	brain
22	chr19:36362000-36362800	Genic enhancers	Brain Hippocampus Middle	brain
23	chr19:36362000-36370200	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr19:36362000-36370400	Strong transcription	Brain Germinal Matrix	brain
25	chr19:36362000-36373200	Weak transcription	Fetal Brain Male	brain
26	chr19:36362200-36363600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr19:36362200-36369800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr19:36362200-36370400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:36362400-36368800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr19:36362400-36378200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr19:36362600-36362800	Genic enhancers	Brain Cingulate Gyrus	brain
32	chr19:36362600-36363400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr19:36362600-36369600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr19:36362600-36378000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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