Variant report

Variant	rs9291719
Chromosome Location	chr5:60566634-60566635
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60564842..60567352-chr5:60626995..60629601,2	K562	blood:
2	chr5:60562038..60564106-chr5:60564910..60567550,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130449	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10044683	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10070347	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs10471269	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10471511	0.96[EUR][1000 genomes]
rs10939896	0.84[EUR][1000 genomes]
rs12187377	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs6869396	1.00[EUR][1000 genomes]
rs6870703	0.82[CEU][hapmap];0.93[EUR][1000 genomes]
rs73103624	1.00[EUR][1000 genomes]
rs9291720	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60550400-60573400	Weak transcription	Gastric	stomach
2	chr5:60556000-60570200	Weak transcription	HSMM	muscle
3	chr5:60560000-60569200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:60560400-60569400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:60560600-60569000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:60560800-60571200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:60561000-60569000	Weak transcription	Brain Substantia Nigra	brain
8	chr5:60561000-60573200	Weak transcription	Brain Hippocampus Middle	brain
9	chr5:60563000-60567400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr5:60564600-60570800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:60564600-60575400	Weak transcription	Fetal Intestine Small	intestine
12	chr5:60564600-60576000	Weak transcription	Psoas Muscle	Psoas
13	chr5:60565600-60567200	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr5:60565600-60570600	Weak transcription	HUVEC	blood vessel
15	chr5:60565800-60571000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr5:60565800-60571200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr5:60566000-60571200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr5:60566000-60573200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr5:60566200-60567000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:60566200-60567800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:60566400-60567000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:60566400-60567000	Enhancers	Lung	lung
23	chr5:60566400-60567800	Enhancers	NHEK	skin
24	chr5:60566400-60573000	Weak transcription	Stomach Mucosa	stomach
25	chr5:60566600-60573800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links