Variant report

Variant	rs965301
Chromosome Location	chr8:120655141-120655142
allele	A/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	GATA2	chr8:120655001-120655252	SH-SY5Y	brain:	n/a	chr8:120655091-120655098 chr8:120655089-120655099 chr8:120655125-120655134 chr8:120655091-120655098 chr8:120655091-120655098 chr8:120655120-120655141
2	GATA3	chr8:120654868-120655457	SK-N-SH	brain:	n/a	chr8:120655091-120655098 chr8:120655089-120655099 chr8:120655125-120655134 chr8:120655091-120655098 chr8:120655091-120655098 chr8:120655120-120655141
3	GATA3	chr8:120654900-120655415	SK-N-SH	brain:	n/a	chr8:120655091-120655098 chr8:120655089-120655099 chr8:120655125-120655134 chr8:120655091-120655098 chr8:120655091-120655098 chr8:120655120-120655141
4	EP300	chr8:120653231-120656828	SK-N-SH	brain:	n/a	chr8:120654956-120654966 chr8:120653719-120653729 chr8:120654393-120654402 chr8:120653560-120653574
5	GATA3	chr8:120654930-120655330	SH-SY5Y	brain:	n/a	chr8:120655091-120655098 chr8:120655089-120655099 chr8:120655125-120655134 chr8:120655091-120655098 chr8:120655091-120655098 chr8:120655120-120655141
6	EP300	chr8:120654966-120655230	SK-N-SH_RA	brain:	n/a	n/a

Variant related genes	Relation type
ENPP2	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11775668	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786983	1.00[CEU][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16892900	0.82[CHD][hapmap]
rs4871419	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871420	1.00[CEU][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58361300	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59168593	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984417	0.89[ASN][1000 genomes]
rs6989212	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6996637	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6996969	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014683	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837894	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7839329	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7840386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs965301	DSCC1	cis	parietal	SCAN
rs965301	UTP23	cis	parietal	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120651400-120656000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:120651800-120656800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr8:120651800-120657400	Weak transcription	Placenta	Placenta
4	chr8:120651800-120667600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:120652000-120656600	Enhancers	Fetal Lung	lung
6	chr8:120652200-120655200	Enhancers	Primary hematopoietic stem cells	blood
7	chr8:120652200-120656600	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr8:120652200-120657400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr8:120652200-120657600	Enhancers	Brain Substantia Nigra	brain
10	chr8:120652400-120655200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:120652400-120655400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:120652400-120655600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:120652400-120655600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:120652400-120655800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:120652400-120655800	Weak transcription	Brain Angular Gyrus	brain
16	chr8:120652400-120656400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr8:120652600-120657200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:120652800-120655600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:120653000-120656600	Enhancers	Brain Hippocampus Middle	brain
20	chr8:120653400-120657800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:120653600-120655800	Enhancers	Primary T cells from cord blood	blood
22	chr8:120653800-120655400	Enhancers	Primary B cells from peripheral blood	blood
23	chr8:120654000-120655200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:120654200-120655600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr8:120654200-120655800	Weak transcription	Brain Anterior Caudate	brain
26	chr8:120654200-120658800	Enhancers	GM12878-XiMat	blood
27	chr8:120654400-120655400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:120654800-120655200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr8:120654800-120655200	Enhancers	Duodenum Mucosa	Duodenum
30	chr8:120655000-120655200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:120655000-120655800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:120655000-120656400	Weak transcription	Primary B cells from cord blood	blood
33	chr8:120655000-120656400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:120655000-120656600	Enhancers	Adipose Nuclei	Adipose
35	chr8:120655000-120658600	Enhancers	Brain Cingulate Gyrus	brain
36	chr8:120655000-120660400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr8:120655000-120660800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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