Variant report

Variant	rs1107106
Chromosome Location	chr9:71318890-71318891
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr9:71318641-71321278	K562	blood:	n/a	n/a
2	GATA1	chr9:71318463-71320399	PBDE	blood:	n/a	chr9:71318536-71318546 chr9:71319220-71319230 chr9:71319222-71319229 chr9:71319311-71319321 chr9:71319806-71319815 chr9:71319217-71319233

No.	Distal block	Cell Line	Cell type
1	chr9:71317900..71319915-chr9:71391633..71393560,2	K562	blood:
2	chr9:71316265..71319270-chr9:71393472..71396544,3	MCF-7	breast:
3	chr9:71316561..71319400-chr9:71390897..71393133,2	K562	blood:
4	chr9:71208704..71211191-chr9:71318423..71320358,2	MCF-7	breast:
5	chr9:71314661..71316622-chr9:71318012..71320131,2	MCF-7	breast:
6	chr9:71318773..71321660-chr9:71357020..71360216,3	K562	blood:

Variant related genes	Relation type
PIP5K1B	TF binding region
ENSG00000107242	Chromatin interaction
ENSG00000187866	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1107109	0.99[AFR][1000 genomes]
rs11999940	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2104930	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56036531	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59193953	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026962	chr9:71130848-71357605	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv893414	chr9:71139378-71320732	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2757339	chr9:71291107-71353743	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv2759693	chr9:71291107-71353743	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv2752385	chr9:71304465-71332240	Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71305400-71319400	Weak transcription	Left Ventricle	heart
2	chr9:71314200-71319000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr9:71314600-71319000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr9:71316800-71319000	Enhancers	HepG2	liver
5	chr9:71316800-71319000	Enhancers	K562	blood
6	chr9:71317000-71319400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:71317400-71319000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:71318200-71319000	Bivalent/Poised TSS	GM12878-XiMat	blood
9	chr9:71318600-71319000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
10	chr9:71318600-71319000	Enhancers	Duodenum Mucosa	Duodenum
11	chr9:71318600-71319000	Enhancers	Fetal Intestine Large	intestine
12	chr9:71318600-71319000	Enhancers	Fetal Intestine Small	intestine
13	chr9:71318600-71319200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr9:71318600-71319400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:71318800-71319000	Enhancers	Primary hematopoietic stem cells	blood
16	chr9:71318800-71319000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:71318800-71319000	Weak transcription	Fetal Heart	heart
18	chr9:71318800-71319200	Enhancers	Primary B cells from peripheral blood	blood
19	chr9:71318800-71319200	Bivalent Enhancer	Brain Germinal Matrix	brain
20	chr9:71318800-71319800	Flanking Active TSS	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links