Variant report

Variant	rs692132
Chromosome Location	chr7:129139990-129139991
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAL1	chr7:129139907-129140108	K562	blood:	n/a	n/a
2	RUNX3	chr7:129139723-129140386	GM12878	blood:	n/a	n/a
3	TCF3	chr7:129139841-129140070	GM12878	blood:	n/a	n/a
4	BHLHE40	chr7:129139879-129140166	GM12878	blood:	n/a	n/a
5	EBF1	chr7:129139801-129140137	GM12878	blood:	n/a	n/a
6	EBF1	chr7:129139748-129140153	GM12878	blood:	n/a	n/a
7	RUNX3	chr7:129139780-129140371	GM12878	blood:	n/a	n/a
8	BATF	chr7:129139812-129140017	GM12878	blood:	n/a	n/a
9	EBF1	chr7:129139719-129140132	GM12878	blood:	n/a	n/a
10	BATF	chr7:129139762-129140048	GM12878	blood:	n/a	n/a
11	TBL1XR1	chr7:129139933-129140200	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129138671..129141978-chr7:129250078..129253028,4	K562	blood:
2	chr7:129139139..129142160-chr7:129272114..129275915,3	MCF-7	breast:
3	chr7:129139279..129144298-chr7:129248057..129253593,12	MCF-7	breast:
4	chr7:129133780..129136057-chr7:129138129..129140676,2	K562	blood:

No data

Variant related genes	Relation type
SMKR1	TF binding region
ENSG00000106459	Chromatin interaction
ENSG00000273329	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10224011	0.82[CHB][hapmap]
rs11768964	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771549	0.85[CHB][hapmap]
rs1272593	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2402951	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs2598183	0.85[CHB][hapmap]
rs55832716	0.83[EUR][1000 genomes]
rs581829	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs587499	0.85[CHB][hapmap]
rs610591	0.82[CHB][hapmap];1.00[ASN][1000 genomes]
rs613068	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs613169	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs632505	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs639605	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs655239	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656981	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs657664	1.00[CHB][hapmap]
rs66516303	0.91[ASN][1000 genomes]
rs666499	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs676947	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs690872	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs690903	0.80[CEU][hapmap];0.85[YRI][hapmap];0.83[EUR][1000 genomes]
rs691303	0.85[CHB][hapmap]
rs691325	0.85[CHB][hapmap]
rs691332	1.00[ASN][1000 genomes]
rs691476	0.82[CHB][hapmap]
rs692248	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs692507	0.84[EUR][1000 genomes]
rs692686	0.92[EUR][1000 genomes]
rs692695	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6969620	0.82[CHB][hapmap]
rs712692	0.92[EUR][1000 genomes]
rs712693	0.92[EUR][1000 genomes]
rs7787531	0.81[CEU][hapmap];0.82[CHB][hapmap]

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	nsv831128	chr7:129063040-129240800	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 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	chr7:129103000-129141200	Weak transcription	Hela-S3	cervix
2	chr7:129104200-129141600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:129122000-129141800	Weak transcription	Right Ventricle	heart
4	chr7:129129400-129141800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:129129600-129141000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:129133600-129141600	Weak transcription	Primary T cells from cord blood	blood
7	chr7:129134000-129141600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:129134400-129141400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:129136200-129141400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:129136200-129141600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:129137400-129141800	Weak transcription	Right Atrium	heart
12	chr7:129137400-129141800	Weak transcription	Spleen	Spleen
13	chr7:129137800-129141600	Weak transcription	Placenta	Placenta
14	chr7:129139600-129141600	Enhancers	Primary B cells from peripheral blood	blood
15	chr7:129139600-129141800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:129139800-129140000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:129139800-129141600	Enhancers	GM12878-XiMat	blood

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