Variant report

Variant	rs2102905
Chromosome Location	chr8:120978217-120978218
allele	C/T
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	CEBPB	chr8:120978009-120978266	IMR90	lung:	n/a	chr8:120978154-120978167
2	KAP1	chr8:120977699-120978228	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
DEPTOR	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10955945	0.91[CHB][hapmap];0.80[JPT][hapmap]
rs11986628	0.86[CEU][hapmap]
rs12541789	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs1464277	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs1464278	0.91[CEU][hapmap]
rs1554376	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1914992	1.00[CEU][hapmap];0.81[CHB][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2037342	0.81[CEU][hapmap]
rs2037343	0.81[CEU][hapmap]
rs2037344	0.81[CEU][hapmap]
rs2271900	0.86[CEU][hapmap]
rs2875929	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[EUR][1000 genomes]
rs35767723	0.86[EUR][1000 genomes]
rs3930200	0.91[CHB][hapmap];0.80[JPT][hapmap]
rs4053282	0.86[CEU][hapmap]
rs4086915	0.81[CEU][hapmap]
rs4871028	0.91[CHB][hapmap]
rs4871819	0.91[CEU][hapmap];0.81[TSI][hapmap]
rs4871824	0.86[CEU][hapmap]
rs9297608	0.87[LWK][hapmap];0.89[MEX][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes]
rs9297609	0.86[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2102905	NOV	cis	parietal	SCAN
rs2102905	DVL3	trans	parietal	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120968800-120981800	Weak transcription	Stomach Mucosa	stomach
2	chr8:120968800-120987800	Weak transcription	Placenta	Placenta
3	chr8:120968800-120988800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:120970800-120980200	Weak transcription	Psoas Muscle	Psoas
5	chr8:120976000-120986000	Weak transcription	Thymus	Thymus
6	chr8:120976800-120984400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:120977200-120979400	Strong transcription	Duodenum Mucosa	Duodenum
8	chr8:120977200-120979600	Strong transcription	Stomach Smooth Muscle	stomach
9	chr8:120977200-120981000	Strong transcription	Fetal Muscle Leg	muscle
10	chr8:120977200-120981000	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:120977200-120981400	Strong transcription	Fetal Intestine Large	intestine
12	chr8:120977200-120984200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:120977200-120984800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:120977400-120978400	Strong transcription	Primary T cells from cord blood	blood
15	chr8:120977400-120978600	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr8:120977400-120978800	Strong transcription	Fetal Kidney	kidney
17	chr8:120977400-120979200	Strong transcription	Brain Substantia Nigra	brain
18	chr8:120977400-120979200	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:120977400-120979200	Strong transcription	Rectal Smooth Muscle	rectum
20	chr8:120977400-120979400	Strong transcription	Primary hematopoietic stem cells	blood
21	chr8:120977400-120979400	Strong transcription	Left Ventricle	heart
22	chr8:120977400-120980400	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr8:120977400-120980800	Strong transcription	Ovary	ovary
24	chr8:120977400-120981200	Strong transcription	Fetal Muscle Trunk	muscle
25	chr8:120977400-120982200	Strong transcription	Brain Hippocampus Middle	brain
26	chr8:120977400-120984400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr8:120977600-120978400	Strong transcription	Brain Anterior Caudate	brain
28	chr8:120977800-120980800	Weak transcription	Lung	lung
29	chr8:120977800-120981200	Strong transcription	Liver	Liver
30	chr8:120977800-120981400	Strong transcription	Fetal Stomach	stomach
31	chr8:120977800-120985800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:120977800-120994600	Weak transcription	Fetal Lung	lung
33	chr8:120978000-120978400	Strong transcription	Brain Angular Gyrus	brain
34	chr8:120978000-120978400	Weak transcription	Pancreas	Pancrea
35	chr8:120978000-120979000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr8:120978000-120979600	Strong transcription	Pancreatic Islets	Pancreatic Islet
37	chr8:120978000-120979800	Strong transcription	Adipose Nuclei	Adipose
38	chr8:120978000-120980400	Strong transcription	Brain Cingulate Gyrus	brain
39	chr8:120978000-120981000	Strong transcription	Fetal Intestine Small	intestine
40	chr8:120978000-120981000	Weak transcription	Osteobl	bone
41	chr8:120978000-120981400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:120978000-120984600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:120978000-120985600	Weak transcription	Brain Germinal Matrix	brain
44	chr8:120978000-120985600	Weak transcription	Spleen	Spleen
45	chr8:120978000-120986000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:120978000-120994800	Weak transcription	Esophagus	oesophagus
47	chr8:120978000-120994800	Weak transcription	Right Ventricle	heart
48	chr8:120978000-121013600	Weak transcription	Gastric	stomach
49	chr8:120978200-120978800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:120978200-120979600	Strong transcription	Brain Inferior Temporal Lobe	brain

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