Variant report

Variant	rs6512257
Chromosome Location	chr19:18447551-18447552
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:18445090..18448208-chr19:18450045..18453418,4	K562	blood:
2	chr19:18441208..18448128-chr19:18448861..18453326,10	K562	blood:

Variant related genes	Relation type
ENSG00000130517	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs7249855	1.00[MEX][hapmap]
rs7251109	0.96[AFR][1000 genomes]
rs8104439	1.00[MEX][hapmap]
rs8111491	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
3	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
4	nsv911271	chr19:18362940-18453124	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	135 gene(s)	inside rSNPs	diseases
5	nsv911273	chr19:18386798-18454825	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	134 gene(s)	inside rSNPs	diseases
6	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18434800-18450600	Weak transcription	Spleen	Spleen
2	chr19:18440000-18450600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr19:18440400-18450600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr19:18440400-18450600	Weak transcription	Stomach Mucosa	stomach
5	chr19:18440400-18450600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr19:18440400-18450800	Weak transcription	Right Ventricle	heart
7	chr19:18440600-18448000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr19:18440600-18449000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr19:18440600-18450800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr19:18441000-18448000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr19:18444000-18450800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:18444200-18451000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr19:18445000-18450600	Weak transcription	K562	blood
14	chr19:18445000-18450800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:18445000-18451000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr19:18446200-18448400	Enhancers	HepG2	liver
17	chr19:18446600-18450600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr19:18446600-18450600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr19:18446600-18450600	Weak transcription	Placenta	Placenta
20	chr19:18446600-18451000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr19:18446800-18450600	Weak transcription	Lung	lung
22	chr19:18446800-18450800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr19:18447000-18447600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:18447200-18448600	Weak transcription	Fetal Intestine Small	intestine
25	chr19:18447400-18448000	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr19:18447400-18448600	Weak transcription	Fetal Intestine Large	intestine
27	chr19:18447400-18450600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr19:18447400-18450800	Weak transcription	H1 Cell Line	embryonic stem cell

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