Variant report

Variant	rs72690137
Chromosome Location	chr8:120877448-120877449
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120876190..120878848-chr8:120883052..120885833,3	K562	blood:
2	chr8:120875465..120877804-chr8:121095827..121097484,2	K562	blood:
3	chr8:120875408..120877601-chr8:120885500..120887601,2	K562	blood:

Variant related genes	Relation type
ENSG00000245330	Chromatin interaction
ENSG00000155792	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10086801	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10955938	0.84[ASN][1000 genomes]
rs10955939	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11785572	0.84[ASN][1000 genomes]
rs11985347	0.84[ASN][1000 genomes]
rs11991780	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16893214	0.84[ASN][1000 genomes]
rs16893240	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16893243	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16893249	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893252	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17818842	0.84[ASN][1000 genomes]
rs2063284	0.84[ASN][1000 genomes]
rs28619135	0.84[ASN][1000 genomes]
rs28700049	0.84[ASN][1000 genomes]
rs55741337	0.84[ASN][1000 genomes]
rs55776270	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55889147	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58900911	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61438417	0.84[ASN][1000 genomes]
rs62526620	0.84[ASN][1000 genomes]
rs62526621	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62526622	0.84[ASN][1000 genomes]
rs62526623	1.00[ASN][1000 genomes]
rs62526624	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62526625	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62526635	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526636	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526637	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526638	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526639	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526640	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526641	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526642	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469856	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6469858	0.91[ASN][1000 genomes]
rs6981251	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6982092	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6982342	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6987018	1.00[ASN][1000 genomes]
rs6987100	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6987160	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6987389	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6988621	0.84[ASN][1000 genomes]
rs6994428	0.82[ASN][1000 genomes]
rs6995594	0.84[ASN][1000 genomes]
rs7001930	0.84[EUR][1000 genomes]
rs7002440	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7007123	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7007265	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7007320	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72690112	0.84[ASN][1000 genomes]
rs72690123	1.00[ASN][1000 genomes]
rs72690128	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72690134	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72690142	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73705442	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7465510	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7813113	0.84[ASN][1000 genomes]
rs7815122	0.84[ASN][1000 genomes]
rs7815266	0.82[ASN][1000 genomes]
rs7823836	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823910	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823917	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825443	0.84[ASN][1000 genomes]
rs7843080	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7843579	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs72690137	DSCC1	cis	Artery Tibial	GTEx
rs72690137	DSCC1	cis	Thyroid	GTEx
rs72690137	DSCC1	cis	Nerve Tibial	GTEx
rs72690137	DSCC1	cis	Skin Sun Exposed Lower leg	GTEx
rs72690137	DSCC1	cis	Muscle Skeletal	GTEx
rs72690137	DSCC1	cis	Artery Aorta	GTEx
rs72690137	DSCC1	cis	Esophagus Muscularis	GTEx
rs72690137	DSCC1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120868800-120879200	Weak transcription	Stomach Mucosa	stomach
2	chr8:120868800-120885600	Weak transcription	Left Ventricle	heart
3	chr8:120869600-120885400	Weak transcription	Fetal Lung	lung
4	chr8:120875400-120879200	Weak transcription	Hela-S3	cervix
5	chr8:120875600-120879400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:120875800-120879200	Weak transcription	Ovary	ovary
7	chr8:120875800-120885400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:120876000-120879000	Weak transcription	Brain Angular Gyrus	brain
9	chr8:120876000-120879200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:120876000-120879200	Weak transcription	Liver	Liver
11	chr8:120876000-120879200	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:120876000-120879400	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:120876000-120879600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr8:120876000-120880000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:120876000-120885200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:120876000-120885400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr8:120876200-120879000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:120876200-120879200	Weak transcription	A549	lung
19	chr8:120877400-120879200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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