Variant report

Variant	rs12462602
Chromosome Location	chr19:55966971-55966972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:55966702-55967217	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55966841..55969896-chr19:55969994..55973204,5	MCF-7	breast:
2	chr19:55894504..55900051-chr19:55962971..55968155,6	K562	blood:
3	chr19:55915948..55921315-chr19:55958410..55968133,14	K562	blood:
4	chr19:55895254..55899821-chr19:55961359..55968155,8	K562	blood:
5	chr19:55910368..55912840-chr19:55964651..55967610,2	K562	blood:

No data

Variant related genes	Relation type
ISOC2	TF binding region
ENSG00000108106	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000063241	Chromatin interaction
ENSG00000267093	Chromatin interaction
ENSG00000108107	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2303089	0.97[ASN][1000 genomes]
rs62128233	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7247719	0.97[ASN][1000 genomes]
rs7253234	0.93[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	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases
2	nsv432086	chr19:55807586-56050844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	nsv912463	chr19:55845386-56004901	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
4	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
5	nsv912477	chr19:55936376-55972950	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv912478	chr19:55936376-56045522	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
7	nsv912479	chr19:55942456-55969746	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55963800-55971000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:55964000-55970400	Weak transcription	Fetal Lung	lung
3	chr19:55964000-55971200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:55964000-55971200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr19:55964000-55971200	Weak transcription	NHLF	lung
6	chr19:55964000-55971400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr19:55964000-55971800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr19:55964200-55967000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:55964200-55967600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr19:55964200-55968400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr19:55964200-55969200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:55964200-55971000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:55964200-55971000	Weak transcription	Colon Smooth Muscle	Colon
14	chr19:55964200-55971000	Weak transcription	Left Ventricle	heart
15	chr19:55964200-55971000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr19:55964200-55971200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr19:55964200-55971200	Weak transcription	Osteobl	bone
18	chr19:55964200-55971400	Weak transcription	HUVEC	blood vessel
19	chr19:55964200-55971600	Weak transcription	NHEK	skin
20	chr19:55964200-55972200	Weak transcription	Small Intestine	intestine
21	chr19:55964400-55971000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr19:55964400-55971000	Weak transcription	Stomach Mucosa	stomach
23	chr19:55964400-55971200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr19:55964400-55972000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:55964400-55972000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr19:55964600-55968400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:55964600-55971400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr19:55964600-55972200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr19:55964600-55972200	Weak transcription	Primary T cells from cord blood	blood
30	chr19:55964800-55967000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr19:55964800-55967000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr19:55964800-55967000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr19:55964800-55967200	Strong transcription	Thymus	Thymus
34	chr19:55964800-55967400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr19:55964800-55967600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr19:55964800-55967600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr19:55964800-55968800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr19:55964800-55969400	Weak transcription	Brain Germinal Matrix	brain
39	chr19:55964800-55971000	Weak transcription	Fetal Brain Male	brain
40	chr19:55964800-55971000	Weak transcription	Fetal Brain Female	brain
41	chr19:55964800-55971400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr19:55964800-55971600	Weak transcription	Right Atrium	heart
43	chr19:55964800-55972000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr19:55964800-55972200	Weak transcription	Primary B cells from cord blood	blood
45	chr19:55964800-55972200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr19:55965000-55971200	Weak transcription	A549	lung
47	chr19:55965000-55971600	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr19:55965000-55972000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr19:55965200-55968000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr19:55965200-55968600	Strong transcription	Spleen	Spleen

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