Variant report

Variant	rs7001930
Chromosome Location	chr8:120888080-120888081
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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
ENSG00000136982	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10086801	0.84[EUR][1000 genomes]
rs16893249	0.84[EUR][1000 genomes]
rs16893252	0.84[EUR][1000 genomes]
rs55776270	0.84[EUR][1000 genomes]
rs62526635	0.84[EUR][1000 genomes]
rs62526636	0.84[EUR][1000 genomes]
rs62526637	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62526638	0.84[EUR][1000 genomes]
rs62526639	0.84[EUR][1000 genomes]
rs62526640	0.84[EUR][1000 genomes]
rs62526641	0.84[EUR][1000 genomes]
rs62526642	0.84[EUR][1000 genomes]
rs6469856	1.00[EUR][1000 genomes]
rs6469858	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6982342	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6987018	0.83[AFR][1000 genomes]
rs6994428	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7007320	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72690134	0.82[EUR][1000 genomes]
rs72690137	0.84[EUR][1000 genomes]
rs7465510	1.00[EUR][1000 genomes]
rs7465526	0.85[EUR][1000 genomes]
rs7815266	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7823836	0.84[EUR][1000 genomes]
rs7823910	0.84[EUR][1000 genomes]
rs7823917	0.83[EUR][1000 genomes]

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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7001930	DSCC1	cis	Nerve Tibial	GTEx
rs7001930	DSCC1	cis	Thyroid	GTEx
rs7001930	DSCC1	cis	Artery Aorta	GTEx
rs7001930	DSCC1	cis	Muscle Skeletal	GTEx
rs7001930	DSCC1	cis	Esophagus Muscularis	GTEx
rs7001930	DSCC1	cis	Artery Tibial	GTEx
rs7001930	DSCC1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120885600-120888200	Active TSS	Brain Hippocampus Middle	brain
2	chr8:120885600-120888200	Active TSS	Psoas Muscle	Psoas
3	chr8:120885600-120888200	Active TSS	Right Atrium	heart
4	chr8:120885600-120889000	Active TSS	Ovary	ovary
5	chr8:120885600-120890000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:120885800-120888200	Active TSS	Fetal Intestine Large	intestine
7	chr8:120885800-120888200	Active TSS	Fetal Kidney	kidney
8	chr8:120885800-120888400	Active TSS	Brain Angular Gyrus	brain
9	chr8:120885800-120888400	Active TSS	Brain Anterior Caudate	brain
10	chr8:120885800-120888400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:120885800-120888400	Active TSS	Rectal Smooth Muscle	rectum
12	chr8:120885800-120888600	Active TSS	Colon Smooth Muscle	Colon
13	chr8:120885800-120888600	Active TSS	Stomach Smooth Muscle	stomach
14	chr8:120885800-120889000	Active TSS	Brain Cingulate Gyrus	brain
15	chr8:120885800-120889600	Active TSS	Fetal Muscle Leg	muscle
16	chr8:120886000-120888800	Active TSS	Gastric	stomach
17	chr8:120886400-120889200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:120886400-120889400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:120886600-120888400	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr8:120887200-120888400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr8:120887200-120888600	Active TSS	Fetal Muscle Trunk	muscle
22	chr8:120887200-120888600	Enhancers	Left Ventricle	heart
23	chr8:120887200-120898400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:120887200-120907600	Weak transcription	Pancreas	Pancrea
25	chr8:120887400-120888400	Weak transcription	Stomach Mucosa	stomach
26	chr8:120887600-120888400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:120887600-120888400	Weak transcription	Esophagus	oesophagus
28	chr8:120887600-120889200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:120887600-120889200	Enhancers	Liver	Liver
30	chr8:120887600-120890000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr8:120887600-120899400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:120887800-120888200	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr8:120887800-120888400	Weak transcription	Fetal Stomach	stomach
34	chr8:120887800-120888600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr8:120887800-120888600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr8:120887800-120889200	Enhancers	Fetal Intestine Small	intestine
37	chr8:120887800-120889400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr8:120887800-120889400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr8:120887800-120889600	Enhancers	Primary hematopoietic stem cells	blood
40	chr8:120887800-120890000	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr8:120887800-120890000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr8:120888000-120888400	Enhancers	Brain Substantia Nigra	brain
43	chr8:120888000-120889600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:120888000-120890200	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr8:120888000-120903800	Weak transcription	Duodenum Mucosa	Duodenum

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