Variant report

Variant	rs71632375
Chromosome Location	chr1:168663429-168663430
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12724957	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12733054	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12746351	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12755641	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34454480	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35012377	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35371130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35942875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36092372	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57717884	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6698634	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71632376	1.00[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	nsv1007846	chr1:168449940-168687265	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv831836	chr1:168538779-168716956	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168659400-168669400	Weak transcription	Small Intestine	intestine
2	chr1:168659600-168663800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:168659600-168663800	Weak transcription	Gastric	stomach
4	chr1:168659600-168664800	Weak transcription	Right Ventricle	heart
5	chr1:168660000-168665800	Enhancers	HepG2	liver
6	chr1:168660600-168665000	Weak transcription	Fetal Heart	heart
7	chr1:168660600-168665600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:168661000-168663600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:168661000-168665000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:168661000-168665000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:168661800-168666200	Enhancers	Colon Smooth Muscle	Colon
12	chr1:168662000-168664400	Enhancers	Fetal Intestine Large	intestine
13	chr1:168662200-168664200	Enhancers	Fetal Intestine Small	intestine
14	chr1:168662400-168664000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr1:168662800-168664000	Enhancers	Stomach Mucosa	stomach
16	chr1:168663000-168665600	Enhancers	Pancreas	Pancrea
17	chr1:168663000-168666200	Enhancers	Fetal Stomach	stomach
18	chr1:168663000-168666400	Enhancers	Rectal Smooth Muscle	rectum
19	chr1:168663200-168663800	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr1:168663200-168664000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr1:168663200-168664000	Enhancers	Stomach Smooth Muscle	stomach
22	chr1:168663200-168665600	Weak transcription	Fetal Kidney	kidney
23	chr1:168663200-168669600	Weak transcription	Liver	Liver
24	chr1:168663400-168663600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:168663400-168663800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:168663400-168665000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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