Variant report

Variant	rs1349688
Chromosome Location	chr11:119978608-119978609
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:119779711..119781214-chr11:119976355..119978913,2	MCF-7	breast:
2	chr11:119883883..119884665-chr11:119978239..119979557,5	MCF-7	breast:
3	chr11:119977572..119979353-chr11:119984796..119987376,2	MCF-7	breast:
4	chr11:119598394..119601999-chr11:119977722..119981899,4	MCF-7	breast:
5	chr11:119536842..119537804-chr11:119978567..119979208,6	K562	blood:
6	chr11:119351964..119353537-chr11:119977212..119979558,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110400	Chromatin interaction
ENSG00000254854	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11217693	0.92[EUR][1000 genomes]
rs12418021	1.00[CHB][hapmap]
rs2084898	1.00[ASN][1000 genomes]
rs4938783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56391092	1.00[ASN][1000 genomes]
rs61900463	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1050132	chr11:119976310-120010437	Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119973800-119978800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:119975200-119980400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:119976400-119979400	Enhancers	Brain Cingulate Gyrus	brain
4	chr11:119976400-119979400	Enhancers	Brain Hippocampus Middle	brain
5	chr11:119976400-119979600	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr11:119976600-119979600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:119977000-119978800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:119977400-119979000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr11:119977400-119979000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
10	chr11:119977600-119979000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr11:119977600-119979000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:119977800-119979000	Enhancers	Brain Angular Gyrus	brain
13	chr11:119978200-119979000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:119978200-119979400	Enhancers	Brain Substantia Nigra	brain
15	chr11:119978400-119978800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:119978400-119978800	Bivalent Enhancer	Fetal Intestine Large	intestine
17	chr11:119978400-119979200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr11:119978400-119980000	Enhancers	Fetal Intestine Small	intestine
19	chr11:119978600-119979000	Enhancers	Brain Anterior Caudate	brain
20	chr11:119978600-119979000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
21	chr11:119978600-119979000	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr11:119978600-119979600	Bivalent Enhancer	Stomach Mucosa	stomach

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