Variant report

Variant	rs16893252
Chromosome Location	chr8:120879600-120879601
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:120867198..120869485-chr8:120877781..120879990,2	K562	blood:
2	chr8:120879496..120880083-chr8:121617650..121618484,2	K562	blood:
3	chr8:120879078..120879717-chr8:121075645..121076453,2	MCF-7	breast:
4	chr8:120879142..120880209-chr8:121095976..121097529,9	K562	blood:
5	chr8:120879060..120879989-chr8:121075627..121076580,4	MCF-7	breast:
6	chr8:120879272..120881074-chr8:120884612..120887145,4	MCF-7	breast:
7	chr8:120879482..120880043-chr8:121096505..121097479,3	MCF-7	breast:
8	chr8:120879060..120880090-chr8:121096532..121097875,8	MCF-7	breast:
9	chr8:120877944..120881007-chr8:120885321..120887341,3	MCF-7	breast:
10	chr8:120879163..120880028-chr8:121135466..121136002,2	K562	blood:
11	chr8:120879446..120880972-chr8:120885397..120887175,2	K562	blood:
12	chr8:120879491..120880321-chr8:121433570..121434551,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000245330	Chromatin interaction
ENSG00000136982	Chromatin interaction
ENSG00000155792	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10086801	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108101	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10955938	0.84[ASN][1000 genomes]
rs10955939	0.93[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	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11996390	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1355174	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16893214	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs16893240	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16893243	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16893249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17818097	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17818440	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17818446	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17818842	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2063283	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2063284	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs28619135	0.84[ASN][1000 genomes]
rs28700049	0.84[ASN][1000 genomes]
rs4073559	0.81[YRI][hapmap]
rs55741337	0.84[ASN][1000 genomes]
rs55776270	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55889147	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58900911	0.99[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	0.86[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	0.93[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526636	1.00[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526641	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469845	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6469856	0.88[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6469858	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.91[ASN][1000 genomes]
rs6981251	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6982092	0.99[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[CHB][hapmap];1.00[ASN][1000 genomes]
rs6987100	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6987160	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6987389	0.80[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6988621	0.84[ASN][1000 genomes]
rs6989803	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6994085	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6994428	0.82[ASN][1000 genomes]
rs6995594	0.84[ASN][1000 genomes]
rs6999808	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7001930	0.84[EUR][1000 genomes]
rs7002440	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7002501	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7003687	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7007123	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7007265	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7007320	1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72690112	0.84[ASN][1000 genomes]
rs72690123	1.00[ASN][1000 genomes]
rs72690128	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72690134	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72690137	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72690142	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73705442	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7465510	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7465526	0.88[CEU][hapmap]
rs7813113	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7813263	0.85[YRI][hapmap]
rs7815122	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7815266	0.82[ASN][1000 genomes]
rs7815389	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7823836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823917	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825443	0.84[ASN][1000 genomes]
rs7827811	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7828086	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7843080	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7843579	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9297606	1.00[JPT][hapmap]
rs953614	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9650078	1.00[CHB][hapmap];1.00[JPT][hapmap]

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:10)

SNP	Gene	Cis/trans	Tissue	Source
rs16893252	DSCC1	cis	Cerebellum	GTEx
rs16893252	DSCC1	cis	Thyroid	GTEx
rs16893252	DSCC1	cis	Nerve Tibial	GTEx
rs16893252	DSCC1	cis	Muscle Skeletal	GTEx
rs16893252	DSCC1	cis	Adipose Subcutaneous	GTEx
rs16893252	DSCC1	cis	Artery Aorta	GTEx
rs16893252	DSCC1	cis	Esophagus Muscularis	GTEx
rs16893252	DSCC1	cis	Artery Tibial	GTEx
rs16893252	DEPDC6	cis	lesional skin	skin_eQTL
rs16893252	DSCC1	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120868800-120885600	Weak transcription	Left Ventricle	heart
2	chr8:120869600-120885400	Weak transcription	Fetal Lung	lung
3	chr8:120875800-120885400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr8:120876000-120879600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr8:120876000-120880000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:120876000-120885200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:120876000-120885400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr8:120878200-120879800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:120878800-120879600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:120878800-120879600	Enhancers	HMEC	breast
11	chr8:120878800-120879600	Enhancers	HSMM	muscle
12	chr8:120878800-120879800	Enhancers	Osteobl	bone
13	chr8:120879000-120879600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr8:120879000-120879600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:120879000-120879600	Enhancers	Adipose Nuclei	Adipose
16	chr8:120879000-120879600	Enhancers	NHLF	lung
17	chr8:120879200-120879600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:120879200-120879600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:120879200-120879600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:120879200-120879600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:120879200-120879600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr8:120879200-120879600	Enhancers	Colon Smooth Muscle	Colon
23	chr8:120879200-120879600	Enhancers	Ovary	ovary
24	chr8:120879200-120879600	Enhancers	Stomach Mucosa	stomach
25	chr8:120879200-120879600	Enhancers	A549	lung
26	chr8:120879200-120879600	Enhancers	Hela-S3	cervix
27	chr8:120879200-120879600	Enhancers	HSMMtube	muscle
28	chr8:120879200-120879600	Enhancers	NHEK	skin
29	chr8:120879200-120879800	Enhancers	Liver	Liver
30	chr8:120879400-120879600	Enhancers	Brain Substantia Nigra	brain
31	chr8:120879400-120879600	Flanking Active TSS	K562	blood
32	chr8:120879400-120879600	Flanking Active TSS	NH-A	brain
33	chr8:120879400-120879800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:120879400-120879800	Enhancers	Dnd41	blood
35	chr8:120879400-120885400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:120879400-120885400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:120879400-120885400	Weak transcription	Brain Angular Gyrus	brain
38	chr8:120879600-120879800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:120879600-120880000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:120879600-120882600	Weak transcription	Hela-S3	cervix
41	chr8:120879600-120882800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:120879600-120883000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:120879600-120883000	Weak transcription	Stomach Mucosa	stomach
44	chr8:120879600-120883000	Weak transcription	HMEC	breast
45	chr8:120879600-120884600	Weak transcription	Colon Smooth Muscle	Colon
46	chr8:120879600-120885400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr8:120879600-120885400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr8:120879600-120885400	Weak transcription	A549	lung
49	chr8:120879600-120885600	Weak transcription	NHEK	skin
50	chr8:120879600-120885600	Weak transcription	NHLF	lung

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