Variant report

Variant	rs1554376
Chromosome Location	chr8:120960461-120960462
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:120954144..120956394-chr8:120958181..120960542,2	K562	blood:
2	chr8:120959692..120962314-chr8:121016213..121017926,2	MCF-7	breast:
3	chr8:120954144..120956709-chr8:120959042..120961843,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10104948	0.88[ASN][1000 genomes]
rs10955945	0.91[CHB][hapmap];0.81[CHD][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs12541789	0.83[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs1464277	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs1464278	0.83[CEU][hapmap]
rs1519810	0.82[YRI][hapmap]
rs16892877	0.82[YRI][hapmap]
rs1914992	0.92[CEU][hapmap];0.81[CHB][hapmap]
rs2102905	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]
rs2875929	0.92[CEU][hapmap];0.82[CHB][hapmap]
rs35853291	0.85[ASN][1000 genomes]
rs3930200	0.91[CHB][hapmap];0.81[CHD][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs4871028	0.91[CHB][hapmap];0.80[CHD][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs4871814	0.87[ASN][1000 genomes]
rs4871815	0.85[ASN][1000 genomes]
rs4871816	0.85[ASN][1000 genomes]
rs4871819	0.92[CEU][hapmap];0.81[TSI][hapmap]
rs6469877	0.81[ASW][hapmap];0.82[YRI][hapmap]
rs67498247	0.88[ASN][1000 genomes]
rs6993270	0.82[YRI][hapmap]
rs7465212	0.81[YRI][hapmap]
rs7825920	0.82[ASN][1000 genomes]
rs9987101	0.85[ASN][1000 genomes]
rs9987104	0.87[ASN][1000 genomes]
rs9987111	0.88[ASN][1000 genomes]

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	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
3	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
4	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
5	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
6	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
7	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
8	nsv972194	chr8:120898451-120965081	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1554376	NOV	cis	parietal	SCAN
rs1554376	DVL3	trans	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120935800-120963200	Weak transcription	Psoas Muscle	Psoas
2	chr8:120945200-120977400	Weak transcription	Fetal Kidney	kidney
3	chr8:120947400-120963200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr8:120947400-120964400	Weak transcription	Adipose Nuclei	Adipose
5	chr8:120947400-120968000	Weak transcription	Spleen	Spleen
6	chr8:120951600-120963400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:120954200-120968000	Weak transcription	Stomach Mucosa	stomach
8	chr8:120954600-120970400	Weak transcription	Fetal Stomach	stomach
9	chr8:120954800-120964400	Weak transcription	Right Atrium	heart
10	chr8:120955400-120963600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:120955600-120963600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr8:120956400-120960600	Enhancers	Brain Angular Gyrus	brain
13	chr8:120956400-120960600	Enhancers	Brain Hippocampus Middle	brain
14	chr8:120956600-120963000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr8:120958800-120960600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr8:120959600-120960600	Enhancers	Brain Anterior Caudate	brain
17	chr8:120959600-120963400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:120959600-120964400	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:120959600-120968600	Weak transcription	Aorta	Aorta
20	chr8:120959800-120966400	Weak transcription	Ovary	ovary
21	chr8:120959800-120977400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr8:120960000-120960600	Enhancers	Fetal Intestine Large	intestine
23	chr8:120960000-120968600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:120960200-120960600	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr8:120960200-120964000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr8:120960400-120961600	Weak transcription	Colon Smooth Muscle	Colon
27	chr8:120960400-120963200	Weak transcription	Brain Substantia Nigra	brain
28	chr8:120960400-120963200	Weak transcription	Lung	lung
29	chr8:120960400-120963600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:120960400-120963600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:120960400-120963800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:120960400-120964200	Weak transcription	Left Ventricle	heart
33	chr8:120960400-120966400	Weak transcription	Gastric	stomach
34	chr8:120960400-120967800	Weak transcription	Fetal Intestine Small	intestine
35	chr8:120960400-120968200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr8:120960400-120968200	Weak transcription	Liver	Liver
37	chr8:120960400-120968200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr8:120960400-120968200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr8:120960400-120968400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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