Variant report

Variant	rs10086797
Chromosome Location	chr8:120993823-120993824
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120993625..120995992-chr8:121085648..121088455,2	MCF-7	breast:
2	chr8:120885825..120887524-chr8:120993411..120995153,3	MCF-7	breast:
3	chr8:120991897..120993934-chr8:121016274..121018192,2	MCF-7	breast:
4	chr8:120993597..120995121-chr8:121010355..121012159,2	MCF-7	breast:
5	chr8:120883348..120885416-chr8:120993271..120996165,2	MCF-7	breast:
6	chr8:120885927..120888357-chr8:120992198..120996692,5	MCF-7	breast:
7	chr8:120867034..120868892-chr8:120993667..120996402,2	MCF-7	breast:

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

Extended variants
information (count: 11 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17222820	1.00[JPT][hapmap]
rs55660329	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7005888	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	nsv968552	chr8:120988705-120994905	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv891419	chr8:120990455-121047798	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10086797	DEPTOR	cis	Esophagus Muscularis	GTEx
rs10086797	DEPDC6	cis	uninvolved skin	skin_eQTL
rs10086797	DSCC1	cis	Esophagus Muscularis	GTEx
rs10086797	DEPDC6	cis	lesional skin	skin_eQTL

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120977800-120994600	Weak transcription	Fetal Lung	lung
2	chr8:120978000-120994800	Weak transcription	Esophagus	oesophagus
3	chr8:120978000-120994800	Weak transcription	Right Ventricle	heart
4	chr8:120978000-121013600	Weak transcription	Gastric	stomach
5	chr8:120979400-120994800	Weak transcription	Left Ventricle	heart
6	chr8:120983400-120994800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:120985600-120996800	Enhancers	Stomach Mucosa	stomach
8	chr8:120986000-120994800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr8:120986200-120994400	Weak transcription	Right Atrium	heart
10	chr8:120986400-120999600	Weak transcription	Spleen	Spleen
11	chr8:120988400-120996800	Enhancers	Fetal Intestine Small	intestine
12	chr8:120989200-120994400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:120989200-120994400	Weak transcription	Brain Substantia Nigra	brain
14	chr8:120990800-120994400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:120990800-120994800	Weak transcription	Pancreas	Pancrea
16	chr8:120990800-120995200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:120990800-121001600	Weak transcription	Ovary	ovary
18	chr8:120991000-120994400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr8:120991000-120994600	Weak transcription	Brain Angular Gyrus	brain
20	chr8:120991000-120994600	Weak transcription	HepG2	liver
21	chr8:120991000-120999800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr8:120991200-120994400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:120991200-120994400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr8:120991200-120994400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr8:120991200-120994600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:120991200-120994600	Weak transcription	Liver	Liver
27	chr8:120991200-120994600	Weak transcription	Colonic Mucosa	Colon
28	chr8:120991200-121013400	Weak transcription	Fetal Stomach	stomach
29	chr8:120991400-120994400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr8:120991400-120994400	Weak transcription	Fetal Kidney	kidney
31	chr8:120991400-120994400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr8:120991400-120994600	Weak transcription	HSMMtube	muscle
33	chr8:120991400-120994800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:120991400-120995000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr8:120991400-120995200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:120991400-121003000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr8:120991800-120994400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr8:120991800-120994800	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:120992000-120994400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr8:120992000-120994400	Weak transcription	Small Intestine	intestine
41	chr8:120992200-120994400	Weak transcription	Adipose Nuclei	Adipose
42	chr8:120992200-120994400	Weak transcription	Colon Smooth Muscle	Colon
43	chr8:120992200-120994400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr8:120992200-120994400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:120992200-120994600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr8:120992200-120994800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr8:120992200-120995000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr8:120992400-120994400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr8:120992600-120994400	Weak transcription	Brain Hippocampus Middle	brain
50	chr8:120993000-120995800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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