Variant report

Variant	rs17129138
Chromosome Location	chr12:41615488-41615489
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	chr12:41615335..41618133-chr12:41621079..41623279,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11392694	0.97[AFR][1000 genomes]
rs11830850	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs11835868	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1431120	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17129118	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17129140	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1897230	1.00[CEU][hapmap];0.80[AFR][1000 genomes]
rs57259770	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58479177	0.93[AFR][1000 genomes]
rs58686550	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58695957	0.93[AFR][1000 genomes]
rs59215090	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59820351	0.95[AFR][1000 genomes]
rs7295707	1.00[CEU][hapmap]
rs73117069	0.97[AFR][1000 genomes]
rs73117071	0.97[AFR][1000 genomes]
rs73119031	0.95[AFR][1000 genomes]
rs73119042	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73119065	0.93[AFR][1000 genomes]
rs7980336	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1051524	chr12:41409977-41643387	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv899034	chr12:41515090-41698342	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv899035	chr12:41548545-41710912	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41611800-41625200	Weak transcription	Aorta	Aorta
2	chr12:41612200-41615800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr12:41613000-41615800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr12:41613800-41616000	Enhancers	Ovary	ovary
5	chr12:41613800-41618000	Enhancers	Primary hematopoietic stem cells	blood
6	chr12:41614000-41615600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:41614000-41616000	Enhancers	Rectal Smooth Muscle	rectum
8	chr12:41614000-41616200	Enhancers	Colon Smooth Muscle	Colon
9	chr12:41614200-41616200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr12:41615000-41615800	Weak transcription	Spleen	Spleen
11	chr12:41615000-41616000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:41615000-41617600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:41615200-41617400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:41615200-41617800	Weak transcription	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links