Variant report

Variant	rs1107109
Chromosome Location	chr9:71318636-71318637
allele	G/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	CTCF	chr9:71318600-71318750	HepG2	liver:	n/a	n/a
2	CTCF	chr9:71318576-71318659	GM19238	blood:	n/a	n/a
3	CTCF	chr9:71318466-71318717	HepG2	liver:	n/a	n/a
4	CTCF	chr9:71318540-71318690	HepG2	liver:	n/a	n/a
5	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
6	CTCF	chr9:71318539-71318682	HepG2	liver:	n/a	n/a
7	CTCF	chr9:71318588-71318644	MCF-7	breast:	n/a	n/a
8	RAD21	chr9:71318416-71318770	HepG2	liver:	n/a	n/a
9	CTCF	chr9:71318554-71318679	MCF-7	breast:	n/a	n/a
10	RAD21	chr9:71318405-71318800	HepG2	liver:	n/a	n/a
11	RAD21	chr9:71318473-71318736	HepG2	liver:	n/a	n/a
12	CTCF	chr9:71318520-71318670	MCF-7	breast:	n/a	n/a
13	RAD21	chr9:71318451-71318711	H1-hESC	embryonic stem cell:	n/a	n/a
14	RAD21	chr9:71318375-71318852	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr9:71318533-71318700	MCF-7	breast:	n/a	n/a

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	chr9:71199033..71199728-chr9:71318176..71318881,4	MCF-7	breast:
5	chr9:71208704..71211191-chr9:71318423..71320358,2	MCF-7	breast:
6	chr9:71314661..71316622-chr9:71318012..71320131,2	MCF-7	breast:

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

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10869147	1.00[EUR][1000 genomes]
rs1107106	0.99[AFR][1000 genomes]
rs11999940	0.91[ASW][hapmap];0.97[LWK][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs12001744	1.00[EUR][1000 genomes]
rs12002970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12003362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12004348	1.00[EUR][1000 genomes]
rs12340677	1.00[EUR][1000 genomes]
rs17052441	1.00[EUR][1000 genomes]
rs17057813	1.00[EUR][1000 genomes]
rs17058128	1.00[EUR][1000 genomes]
rs2039624	1.00[MEX][hapmap]
rs2065388	1.00[EUR][1000 genomes]
rs2104930	0.93[AFR][1000 genomes]
rs371367	1.00[MEX][hapmap]
rs3763607	1.00[MEX][hapmap]
rs55931741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56017605	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56036531	0.97[AFR][1000 genomes]
rs56173513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56822677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56885985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57085507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57105289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57442310	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58120494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58282494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58870473	1.00[EUR][1000 genomes]
rs59193953	0.94[AFR][1000 genomes]
rs59646983	1.00[EUR][1000 genomes]
rs60175722	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60300145	1.00[EUR][1000 genomes]
rs60809779	1.00[EUR][1000 genomes]
rs6560256	1.00[EUR][1000 genomes]
rs7021335	1.00[EUR][1000 genomes]
rs7046642	1.00[MEX][hapmap]
rs7048275	1.00[MEX][hapmap]
rs7048378	1.00[EUR][1000 genomes]
rs73449521	1.00[AMR][1000 genomes]
rs73646709	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73646710	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73646711	1.00[EUR][1000 genomes]
rs73646712	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73646713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73646714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73646754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73646755	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73646756	1.00[EUR][1000 genomes]
rs73646758	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73646775	1.00[EUR][1000 genomes]
rs7866754	1.00[EUR][1000 genomes]
rs7870383	1.00[MEX][hapmap]
rs953036	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv466392	chr9:71130848-71318817	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv614546	chr9:71130848-71318817	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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:17 , 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	chr9:71314400-71318800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr9:71314600-71318800	Weak transcription	Primary B cells from cord blood	blood
5	chr9:71314600-71318800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr9:71314600-71319000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr9:71316800-71319000	Enhancers	HepG2	liver
8	chr9:71316800-71319000	Enhancers	K562	blood
9	chr9:71317000-71319400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:71317400-71319000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:71318200-71319000	Bivalent/Poised TSS	GM12878-XiMat	blood
12	chr9:71318600-71319000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
13	chr9:71318600-71319000	Enhancers	Duodenum Mucosa	Duodenum
14	chr9:71318600-71319000	Enhancers	Fetal Intestine Large	intestine
15	chr9:71318600-71319000	Enhancers	Fetal Intestine Small	intestine
16	chr9:71318600-71319200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr9:71318600-71319400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links