Variant report

Variant	rs11799770
Chromosome Location	chr1:57490447-57490448
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11206974	1.00[EUR][1000 genomes]
rs11807035	1.00[EUR][1000 genomes]
rs11808294	1.00[EUR][1000 genomes]
rs11808305	1.00[EUR][1000 genomes]
rs12072428	1.00[EUR][1000 genomes]
rs12083616	1.00[CEU][hapmap]
rs13374012	1.00[EUR][1000 genomes]
rs35124225	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6677976	1.00[EUR][1000 genomes]
rs6684103	0.94[YRI][hapmap];0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6684287	1.00[CEU][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6688025	0.89[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6697460	1.00[EUR][1000 genomes]
rs706352	1.00[EUR][1000 genomes]
rs7529992	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428752	chr1:57455083-57605082	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57483200-57494000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:57483400-57490600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:57483600-57490600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:57485200-57494800	Weak transcription	Fetal Brain Female	brain
5	chr1:57485400-57490600	Weak transcription	HepG2	liver
6	chr1:57485400-57498000	Weak transcription	Liver	Liver
7	chr1:57486000-57502600	Weak transcription	Fetal Brain Male	brain
8	chr1:57487800-57498800	Weak transcription	Fetal Intestine Large	intestine
9	chr1:57489600-57491400	Enhancers	Brain Germinal Matrix	brain
10	chr1:57490000-57491200	Enhancers	Brain Cingulate Gyrus	brain
11	chr1:57490000-57491400	Enhancers	Brain Substantia Nigra	brain
12	chr1:57490200-57490800	Enhancers	Fetal Muscle Leg	muscle
13	chr1:57490200-57491400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:57490200-57491600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:57490200-57491600	Enhancers	Stomach Smooth Muscle	stomach
16	chr1:57490200-57493000	Enhancers	Colon Smooth Muscle	Colon
17	chr1:57490400-57490600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:57490400-57490600	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr1:57490400-57490600	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr1:57490400-57490600	Enhancers	Fetal Stomach	stomach
21	chr1:57490400-57490800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:57490400-57490800	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr1:57490400-57490800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr1:57490400-57490800	Enhancers	Psoas Muscle	Psoas
25	chr1:57490400-57491000	Enhancers	Fetal Muscle Trunk	muscle
26	chr1:57490400-57491200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr1:57490400-57491200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:57490400-57491400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr1:57490400-57491400	Enhancers	Brain Angular Gyrus	brain
30	chr1:57490400-57491400	Strong transcription	Fetal Intestine Small	intestine

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