Variant report

Variant	rs55889147
Chromosome Location	chr8:120867693-120867694
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:120843501..120846699-chr8:120865917..120869113,7	MCF-7	breast:
2	chr8:120867539..120869566-chr8:120874837..120876413,2	MCF-7	breast:
3	chr8:120867684..120870037-chr8:120884451..120886345,2	K562	blood:
4	chr8:120866790..120869291-chr8:121456136..121458268,2	MCF-7	breast:
5	chr8:120865666..120868065-chr8:124407235..124409746,2	K562	blood:
6	chr8:120866730..120869816-chr8:120885660..120889126,4	MCF-7	breast:
7	chr8:120842870..120846971-chr8:120866583..120869973,4	MCF-7	breast:
8	chr8:120866641..120870729-chr8:120883446..120889946,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000172172	Chromatin interaction
ENSG00000245330	Chromatin interaction
ENSG00000155792	Chromatin interaction
ENSG00000172167	Chromatin interaction
ENSG00000244642	Chromatin interaction
ENSG00000156802	Chromatin interaction
ENSG00000064313	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10086801	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10955938	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10955939	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785572	0.84[ASN][1000 genomes]
rs11985347	0.84[ASN][1000 genomes]
rs11991780	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893214	0.84[ASN][1000 genomes]
rs16893240	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893243	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16893249	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16893252	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17818842	0.84[ASN][1000 genomes]
rs2063284	0.84[ASN][1000 genomes]
rs28619135	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28700049	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55741337	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55776270	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58900911	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61438417	0.84[ASN][1000 genomes]
rs62526620	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62526621	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526622	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62526623	1.00[ASN][1000 genomes]
rs62526624	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526625	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526635	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62526636	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62526637	1.00[ASN][1000 genomes]
rs62526638	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62526639	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62526640	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62526641	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62526642	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6469856	0.91[ASN][1000 genomes]
rs6469858	0.91[ASN][1000 genomes]
rs6981251	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982092	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982342	0.91[ASN][1000 genomes]
rs6987018	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987100	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987160	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987389	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][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]
rs7002440	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007123	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007265	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7007320	0.91[ASN][1000 genomes]
rs72690112	0.84[ASN][1000 genomes]
rs72690123	1.00[ASN][1000 genomes]
rs72690128	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72690134	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72690137	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72690142	0.81[AMR][1000 genomes]
rs73705442	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7465510	0.91[ASN][1000 genomes]
rs7813113	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7815122	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7815266	0.82[ASN][1000 genomes]
rs7823836	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7823910	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7823917	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7825443	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7843080	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843579	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][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:10)

SNP	Gene	Cis/trans	Tissue	Source
rs55889147	DSCC1	cis	Muscle Skeletal	GTEx
rs55889147	DSCC1	cis	Adipose Subcutaneous	GTEx
rs55889147	DSCC1	cis	lung	GTEx
rs55889147	DSCC1	cis	Esophagus Muscularis	GTEx
rs55889147	DSCC1	cis	Thyroid	GTEx
rs55889147	DSCC1	cis	Artery Aorta	GTEx
rs55889147	DSCC1	cis	Heart Left Ventricle	GTEx
rs55889147	DSCC1	cis	Nerve Tibial	GTEx
rs55889147	DSCC1	cis	Skin Sun Exposed Lower leg	GTEx
rs55889147	DSCC1	cis	Artery Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120865400-120868600	Active TSS	GM12878-XiMat	blood
2	chr8:120866000-120868600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:120866000-120868600	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr8:120866000-120868800	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr8:120866200-120867800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr8:120866200-120868400	Active TSS	H1 Cell Line	embryonic stem cell
7	chr8:120866400-120867800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:120866400-120868800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr8:120866400-120869000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr8:120866600-120868600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:120866600-120869200	Active TSS	H9 Cell Line	embryonic stem cell
12	chr8:120866800-120867800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:120866800-120867800	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr8:120866800-120867800	Flanking Active TSS	HMEC	breast
15	chr8:120866800-120868000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:120866800-120868000	Flanking Active TSS	Thymus	Thymus
17	chr8:120867000-120867800	Flanking Active TSS	Fetal Brain Female	brain
18	chr8:120867000-120867800	Flanking Active TSS	Fetal Intestine Small	intestine
19	chr8:120867000-120867800	Flanking Active TSS	Fetal Lung	lung
20	chr8:120867000-120867800	Flanking Active TSS	Fetal Thymus	thymus
21	chr8:120867000-120868000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:120867000-120868000	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr8:120867000-120868600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:120867000-120868600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:120867000-120868800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:120867000-120868800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr8:120867000-120869000	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr8:120867200-120867800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:120867200-120867800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:120867200-120867800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr8:120867200-120867800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr8:120867200-120867800	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr8:120867200-120867800	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr8:120867200-120867800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr8:120867200-120867800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr8:120867200-120867800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr8:120867200-120867800	Flanking Active TSS	Fetal Intestine Large	intestine
38	chr8:120867200-120867800	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr8:120867200-120867800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr8:120867200-120867800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr8:120867200-120867800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr8:120867200-120867800	Flanking Active TSS	HUVEC	blood vessel
43	chr8:120867200-120868000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr8:120867200-120868000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:120867200-120868000	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr8:120867200-120868000	Flanking Active TSS	Liver	Liver
47	chr8:120867200-120868000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr8:120867200-120868000	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr8:120867200-120868400	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr8:120867200-120868400	Active TSS	HUES6 Cell Line	embryonic stem cell

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