Variant report

Variant	rs680531
Chromosome Location	chr1:168664043-168664044
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168663774..168665860-chr1:168668425..168670512,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs524705	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs580360	0.81[ASN][1000 genomes]
rs586318	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs597584	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs603259	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs604627	0.80[ASN][1000 genomes]
rs606012	0.81[ASN][1000 genomes]
rs612680	0.86[ASN][1000 genomes]
rs627098	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs627406	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs631451	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs656529	0.80[ASN][1000 genomes]
rs681445	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs682367	0.81[ASN][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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168659400-168669400	Weak transcription	Small Intestine	intestine
2	chr1:168659600-168664800	Weak transcription	Right Ventricle	heart
3	chr1:168660000-168665800	Enhancers	HepG2	liver
4	chr1:168660600-168665000	Weak transcription	Fetal Heart	heart
5	chr1:168660600-168665600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:168661000-168665000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:168661000-168665000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:168661800-168666200	Enhancers	Colon Smooth Muscle	Colon
9	chr1:168662000-168664400	Enhancers	Fetal Intestine Large	intestine
10	chr1:168662200-168664200	Enhancers	Fetal Intestine Small	intestine
11	chr1:168663000-168665600	Enhancers	Pancreas	Pancrea
12	chr1:168663000-168666200	Enhancers	Fetal Stomach	stomach
13	chr1:168663000-168666400	Enhancers	Rectal Smooth Muscle	rectum
14	chr1:168663200-168665600	Weak transcription	Fetal Kidney	kidney
15	chr1:168663200-168669600	Weak transcription	Liver	Liver
16	chr1:168663400-168665000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:168663800-168664400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:168663800-168664400	Enhancers	Gastric	stomach
19	chr1:168664000-168664800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:168664000-168664800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr1:168664000-168665000	Weak transcription	Stomach Mucosa	stomach
22	chr1:168664000-168665200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:168664000-168665400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:168664000-168669400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:168664000-168669600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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