Variant report

Variant	rs7007320
Chromosome Location	chr8:120888900-120888901
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:120888833-120889014	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120866730..120869816-chr8:120885660..120889126,4	MCF-7	breast:
2	chr8:120866641..120870729-chr8:120883446..120889946,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245330	TF binding region
ENSG00000136982	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10086801	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10092845	0.80[AFR][1000 genomes]
rs10108101	1.00[CHB][hapmap]
rs10955939	0.91[ASN][1000 genomes]
rs11991780	0.91[ASN][1000 genomes]
rs11996390	1.00[CHB][hapmap]
rs13263147	0.83[AFR][1000 genomes]
rs1355174	1.00[CHB][hapmap]
rs16893214	1.00[CHB][hapmap]
rs16893240	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs16893243	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs16893249	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16893252	1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17818097	1.00[CHB][hapmap]
rs17818440	1.00[CHB][hapmap]
rs17818446	1.00[CHB][hapmap]
rs17818842	1.00[CHB][hapmap]
rs2063283	1.00[CHB][hapmap]
rs2063284	1.00[CHB][hapmap]
rs4871010	0.83[AFR][1000 genomes]
rs4871011	0.83[AFR][1000 genomes]
rs55776270	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55889147	0.91[ASN][1000 genomes]
rs58900911	0.91[ASN][1000 genomes]
rs62526621	0.91[ASN][1000 genomes]
rs62526623	0.91[ASN][1000 genomes]
rs62526624	0.91[ASN][1000 genomes]
rs62526625	0.91[ASN][1000 genomes]
rs62526635	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62526636	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62526637	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62526638	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62526639	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62526640	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62526641	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62526642	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6469845	1.00[CHB][hapmap]
rs6469856	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469858	1.00[CHB][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469860	0.83[AFR][1000 genomes]
rs6981251	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs6982092	0.91[ASN][1000 genomes]
rs6982342	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987018	1.00[CHB][hapmap];0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6987100	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs6987160	0.91[ASN][1000 genomes]
rs6987389	0.91[ASN][1000 genomes]
rs6989803	1.00[CHB][hapmap]
rs6994085	1.00[CHB][hapmap]
rs6994428	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6999808	1.00[CHB][hapmap]
rs7001930	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7002440	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs7002501	1.00[CHB][hapmap]
rs7003687	1.00[CHB][hapmap]
rs7007123	0.91[ASN][1000 genomes]
rs7007265	0.91[ASN][1000 genomes]
rs72690123	0.91[ASN][1000 genomes]
rs72690128	0.91[ASN][1000 genomes]
rs72690134	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72690137	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73705442	0.91[ASN][1000 genomes]
rs7465510	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7465526	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs7813113	1.00[CHB][hapmap]
rs7815122	1.00[CHB][hapmap]
rs7815266	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7815389	1.00[CHB][hapmap]
rs7823836	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7823910	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7823917	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7827811	1.00[CHB][hapmap]
rs7828086	1.00[CHB][hapmap]
rs7837823	0.80[AFR][1000 genomes]
rs7838578	0.83[AFR][1000 genomes]
rs7843080	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs7843579	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs7845043	0.83[AFR][1000 genomes]
rs9297606	1.00[CHB][hapmap]
rs953614	1.00[CHB][hapmap]
rs9650078	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7007320	DSCC1	cis	Muscle Skeletal	GTEx
rs7007320	DSCC1	cis	Cerebellum	GTEx
rs7007320	DSCC1	cis	Esophagus Muscularis	GTEx
rs7007320	DSCC1	cis	Artery Tibial	GTEx
rs7007320	DSCC1	cis	Nerve Tibial	GTEx
rs7007320	DSCC1	cis	Thyroid	GTEx
rs7007320	DSCC1	cis	Artery Aorta	GTEx
rs7007320	DSCC1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120885600-120889000	Active TSS	Ovary	ovary
2	chr8:120885600-120890000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:120885800-120889000	Active TSS	Brain Cingulate Gyrus	brain
4	chr8:120885800-120889600	Active TSS	Fetal Muscle Leg	muscle
5	chr8:120886400-120889200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:120886400-120889400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:120887200-120898400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:120887200-120907600	Weak transcription	Pancreas	Pancrea
9	chr8:120887600-120889200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:120887600-120889200	Enhancers	Liver	Liver
11	chr8:120887600-120890000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr8:120887600-120899400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:120887800-120889200	Enhancers	Fetal Intestine Small	intestine
14	chr8:120887800-120889400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:120887800-120889400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr8:120887800-120889600	Enhancers	Primary hematopoietic stem cells	blood
17	chr8:120887800-120890000	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr8:120887800-120890000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr8:120888000-120889600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:120888000-120890200	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr8:120888000-120903800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr8:120888200-120903400	Weak transcription	Right Atrium	heart
23	chr8:120888200-120904600	Weak transcription	Fetal Kidney	kidney
24	chr8:120888400-120889000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:120888400-120889000	Active TSS	Stomach Mucosa	stomach
26	chr8:120888400-120889800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr8:120888600-120889000	Enhancers	Brain Anterior Caudate	brain
28	chr8:120888600-120889000	Enhancers	Brain Hippocampus Middle	brain
29	chr8:120888600-120889000	Weak transcription	Fetal Stomach	stomach
30	chr8:120888600-120889200	Enhancers	Colon Smooth Muscle	Colon
31	chr8:120888600-120889200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr8:120888600-120889400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr8:120888600-120889600	Weak transcription	Psoas Muscle	Psoas
34	chr8:120888600-120890000	Enhancers	Brain Angular Gyrus	brain
35	chr8:120888600-120890000	Enhancers	Brain Substantia Nigra	brain
36	chr8:120888600-120890200	Enhancers	Rectal Smooth Muscle	rectum
37	chr8:120888600-120890800	Weak transcription	Fetal Intestine Large	intestine
38	chr8:120888600-120899400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr8:120888600-120899800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr8:120888800-120898400	Weak transcription	Gastric	stomach

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