Variant report

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

rs_ID	r²[population]
rs11206974	1.00[EUR][1000 genomes]
rs11799770	0.94[YRI][hapmap];0.84[AFR][1000 genomes];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]
rs13374012	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs155306	1.00[MEX][hapmap]
rs35124225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6677976	1.00[EUR][1000 genomes]
rs6679850	1.00[MEX][hapmap]
rs6684287	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6688025	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6692425	1.00[MEX][hapmap]
rs6697460	1.00[EUR][1000 genomes]
rs6697608	1.00[MEX][hapmap]
rs706352	1.00[EUR][1000 genomes]
rs7523415	1.00[MEX][hapmap]
rs7529992	1.00[EUR][1000 genomes]
rs856842	1.00[MEX][hapmap]

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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57457800-57480400	Weak transcription	Fetal Intestine Small	intestine
2	chr1:57460400-57483000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:57463800-57482200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:57471200-57482600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:57472600-57484400	Weak transcription	Fetal Brain Male	brain
6	chr1:57474200-57490200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:57475600-57480800	Weak transcription	Fetal Brain Female	brain
8	chr1:57475800-57479400	Strong transcription	Fetal Intestine Large	intestine
9	chr1:57476000-57482400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:57476200-57480400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:57477000-57479800	Enhancers	Fetal Heart	heart
12	chr1:57477400-57479000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:57477400-57480000	Enhancers	Colon Smooth Muscle	Colon
14	chr1:57477400-57480200	Enhancers	Rectal Smooth Muscle	rectum
15	chr1:57477600-57478800	Weak transcription	Liver	Liver
16	chr1:57477600-57490200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:57478000-57479800	Enhancers	Fetal Stomach	stomach

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