Variant report

Variant	rs682367
Chromosome Location	chr1:168664450-168664451
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: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs494317	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs520084	0.97[ASN][1000 genomes]
rs523582	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs523587	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs524705	0.87[CHB][hapmap];0.82[JPT][hapmap];0.80[MEX][hapmap];0.81[ASN][1000 genomes]
rs530022	0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs544013	0.82[JPT][hapmap]
rs580360	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs586318	0.89[CHB][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs597584	0.80[ASN][1000 genomes]
rs598416	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59849641	0.96[ASN][1000 genomes]
rs603259	0.81[ASN][1000 genomes]
rs604627	1.00[CEU][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs606012	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs627406	0.87[CHB][hapmap];0.82[JPT][hapmap];0.80[MEX][hapmap]
rs630159	0.88[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs631451	0.83[CHB][hapmap];0.82[JPT][hapmap];0.80[MEX][hapmap];0.80[ASN][1000 genomes]
rs664879	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs680531	0.81[ASN][1000 genomes]
rs681445	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:24 , 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	chr1:168663000-168665600	Enhancers	Pancreas	Pancrea
10	chr1:168663000-168666200	Enhancers	Fetal Stomach	stomach
11	chr1:168663000-168666400	Enhancers	Rectal Smooth Muscle	rectum
12	chr1:168663200-168665600	Weak transcription	Fetal Kidney	kidney
13	chr1:168663200-168669600	Weak transcription	Liver	Liver
14	chr1:168663400-168665000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:168664000-168664800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:168664000-168664800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:168664000-168665000	Weak transcription	Stomach Mucosa	stomach
18	chr1:168664000-168665200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:168664000-168665400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:168664000-168669400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:168664000-168669600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:168664200-168664600	Weak transcription	Fetal Intestine Small	intestine
23	chr1:168664400-168664800	Weak transcription	Fetal Intestine Large	intestine
24	chr1:168664400-168665600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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