Variant report

Variant	rs12972096
Chromosome Location	chr19:21784965-21784966
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:21776789..21778695-chr19:21784881..21786729,2	K562	blood:
2	chr19:21784507..21786165-chr19:21795628..21798618,2	K562	blood:
3	chr19:21780063..21781970-chr19:21783251..21784988,3	K562	blood:

Variant related genes	Relation type
ENSG00000268240	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1566475	1.00[YRI][hapmap]
rs2359146	0.83[YRI][hapmap]
rs2650846	0.83[YRI][hapmap]
rs2914632	0.83[YRI][hapmap]
rs6511272	0.89[AFR][1000 genomes]
rs7254098	0.83[YRI][hapmap]
rs7257168	0.89[AFR][1000 genomes]
rs8111237	0.89[AFR][1000 genomes]
rs939300	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv833782	chr19:21663537-21845722	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1056332	chr19:21746555-21807647	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv911422	chr19:21752009-21973929	ZNF genes & repeats Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv960938	chr19:21766627-21785276	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3441368	chr19:21781459-22182822	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	esv3339694	chr19:21781479-22182792	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1063115	chr19:21782104-22528039	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv911423	chr19:21783995-21858994	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21770000-21786600	Weak transcription	Primary T cells from cord blood	blood
2	chr19:21770200-21786600	Weak transcription	Right Ventricle	heart
3	chr19:21771000-21786200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr19:21771200-21786200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:21771200-21786200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr19:21771400-21785000	Weak transcription	Fetal Intestine Small	intestine
7	chr19:21778200-21785800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr19:21781400-21785400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:21782000-21785000	Enhancers	K562	blood
10	chr19:21782000-21786200	Enhancers	Primary hematopoietic stem cells	blood
11	chr19:21782600-21786200	Weak transcription	Spleen	Spleen
12	chr19:21783600-21786200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:21783600-21787000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr19:21783800-21786000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr19:21784000-21785400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr19:21784000-21786000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr19:21784000-21786200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr19:21784000-21786400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr19:21784200-21785600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr19:21784200-21786200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr19:21784400-21785400	Enhancers	Pancreas	Pancrea
22	chr19:21784400-21786000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr19:21784600-21785000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:21784600-21787200	Enhancers	Fetal Intestine Large	intestine
25	chr19:21784800-21785400	Flanking Active TSS	Dnd41	blood
26	chr19:21784800-21788400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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