Variant report

Variant	rs12110548
Chromosome Location	chr6:131147603-131147604
allele	A/G
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	MXI1	chr6:131147408-131147921	HepG2	liver:	n/a	n/a
2	SIN3A	chr6:131146884-131147621	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr6:131147231-131147697	H1-hESC	embryonic stem cell:	n/a	chr6:131147483-131147502
4	FOXA2	chr6:131147446-131148064	HepG2	liver:	n/a	n/a
5	POLR2A	chr6:131147370-131147923	HepG2	liver:	n/a	n/a
6	YY1	chr6:131147308-131147620	H1-hESC	embryonic stem cell:	n/a	n/a
7	TEAD4	chr6:131147184-131147695	H1-hESC	embryonic stem cell:	n/a	n/a
8	SMC3	chr6:131147405-131147605	HepG2	liver:	n/a	n/a
9	RAD21	chr6:131147224-131147636	H1-hESC	embryonic stem cell:	n/a	chr6:131147483-131147502
10	FOXA1	chr6:131147448-131147983	HepG2	liver:	n/a	n/a
11	FOXA1	chr6:131147449-131147905	HepG2	liver:	n/a	n/a
12	SIN3AK20	chr6:131147233-131147621	H1-hESC	embryonic stem cell:	n/a	n/a
13	TEAD4	chr6:131147240-131147617	H1-hESC	embryonic stem cell:	n/a	n/a
14	RAD21	chr6:131147316-131147680	H1-hESC	embryonic stem cell:	n/a	chr6:131147483-131147502
15	FOXA1	chr6:131147389-131147971	HepG2	liver:	n/a	n/a
16	CEBPB	chr6:131147281-131147847	HepG2	liver:	n/a	chr6:131147749-131147761
17	MYBL2	chr6:131146917-131149508	HepG2	liver:	n/a	n/a
18	RAD21	chr6:131147221-131147631	HCT-116	colon:	n/a	chr6:131147483-131147502
19	CTCF	chr6:131147313-131147642	H1-hESC	embryonic stem cell:	n/a	chr6:131147484-131147505 chr6:131147482-131147500 chr6:131147483-131147499

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131147006..131147783-chr6:131193112..131193749,2	MCF-7	breast:

Variant related genes	Relation type
SMLR1	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11489193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1334690	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17059669	0.92[AFR][1000 genomes]
rs2281489	0.95[AFR][1000 genomes]
rs56975754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60135051	1.00[AMR][1000 genomes]
rs60667194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61366454	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6904526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs714709	0.97[AFR][1000 genomes]
rs73774098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774324	1.00[AMR][1000 genomes]
rs73774336	1.00[AMR][1000 genomes]
rs73774344	1.00[AMR][1000 genomes]
rs73774346	1.00[AMR][1000 genomes]
rs73775307	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73775308	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73775311	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73775317	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73775318	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73775323	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73775325	0.84[AFR][1000 genomes]
rs73775339	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131132000-131159200	Weak transcription	HSMM	muscle
2	chr6:131132000-131173800	Weak transcription	HSMMtube	muscle
3	chr6:131136400-131174400	Weak transcription	Left Ventricle	heart
4	chr6:131145600-131148400	Weak transcription	Psoas Muscle	Psoas
5	chr6:131145800-131147800	Enhancers	Liver	Liver
6	chr6:131145800-131148000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr6:131146200-131148000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:131146400-131147800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr6:131146400-131148000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr6:131146400-131148000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:131146400-131148000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:131146400-131148000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:131146400-131148600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr6:131146800-131147800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr6:131146800-131148000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr6:131147000-131147800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr6:131147200-131147800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:131147200-131148400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:131147200-131148400	Enhancers	Fetal Intestine Small	intestine
20	chr6:131147400-131148000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr6:131147400-131148000	Enhancers	Fetal Intestine Large	intestine
22	chr6:131147600-131148400	Flanking Active TSS	HepG2	liver
23	chr6:131147600-131157800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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