Variant report

Variant	rs12294687
Chromosome Location	chr11:92589191-92589192
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10830951	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12277422	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1552511	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3912662	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[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	nsv1043861	chr11:92357570-92689868	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1044571	chr11:92495213-92742314	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:92577800-92589600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:92577800-92592000	Weak transcription	Aorta	Aorta
3	chr11:92578000-92590200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:92578200-92592000	Weak transcription	Brain Anterior Caudate	brain
5	chr11:92578200-92598600	Weak transcription	Fetal Brain Male	brain
6	chr11:92578600-92592200	Weak transcription	Fetal Brain Female	brain
7	chr11:92579800-92592600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:92585600-92589200	Weak transcription	Dnd41	blood
9	chr11:92585600-92603000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:92585800-92590400	Weak transcription	Fetal Muscle Leg	muscle
11	chr11:92586400-92591600	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:92586600-92590200	Weak transcription	Thymus	Thymus
13	chr11:92586800-92589200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr11:92586800-92615800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:92587200-92589200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:92587400-92590400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:92587400-92592400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:92587400-92615800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:92587600-92589400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:92587800-92589800	Enhancers	Fetal Stomach	stomach
21	chr11:92588000-92590200	Enhancers	Fetal Lung	lung
22	chr11:92588200-92590400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:92588400-92591000	Enhancers	NHLF	lung
24	chr11:92588400-92594400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr11:92588600-92589600	Weak transcription	Fetal Kidney	kidney
26	chr11:92588600-92590200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:92588800-92589200	Weak transcription	Fetal Thymus	thymus
28	chr11:92588800-92589600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr11:92588800-92590000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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