Variant report

Variant	rs9967610
Chromosome Location	chr19:18442528-18442529
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:18441208..18448128-chr19:18448861..18453326,10	K562	blood:
2	chr19:18382564..18395263-chr19:18409643..18446343,165	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130518	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000130522	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10410957	1.00[AMR][1000 genomes]
rs10415054	1.00[AMR][1000 genomes]
rs11880612	1.00[AMR][1000 genomes]
rs11883272	1.00[AMR][1000 genomes]
rs28489988	1.00[AMR][1000 genomes]
rs73525104	1.00[AMR][1000 genomes]
rs73527416	1.00[AMR][1000 genomes]
rs8102451	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18434800-18443200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr19:18434800-18450600	Weak transcription	Spleen	Spleen
3	chr19:18440000-18443600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr19:18440000-18443600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr19:18440000-18443600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:18440000-18443600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:18440000-18450600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr19:18440200-18443200	Weak transcription	NH-A	brain
9	chr19:18440200-18443200	Weak transcription	NHEK	skin
10	chr19:18440200-18443400	Weak transcription	A549	lung
11	chr19:18440200-18443600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr19:18440200-18443600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr19:18440200-18443600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:18440400-18442600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr19:18440400-18443200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:18440400-18443400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr19:18440400-18443400	Weak transcription	K562	blood
18	chr19:18440400-18443600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:18440400-18444800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr19:18440400-18446200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr19:18440400-18450600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:18440400-18450600	Weak transcription	Stomach Mucosa	stomach
23	chr19:18440400-18450600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr19:18440400-18450800	Weak transcription	Right Ventricle	heart
25	chr19:18440600-18443600	Weak transcription	Fetal Intestine Small	intestine
26	chr19:18440600-18448000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr19:18440600-18449000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr19:18440600-18450800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr19:18441000-18443200	Weak transcription	HepG2	liver
30	chr19:18441000-18448000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr19:18441200-18443200	Weak transcription	Fetal Intestine Large	intestine
32	chr19:18442000-18446000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr19:18442400-18446600	Enhancers	Placenta	Placenta

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