Variant report

Variant	rs9314160
Chromosome Location	chr5:95156457-95156458
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	EBF1	chr5:95156311-95156686	GM12878	blood:	n/a	chr5:95156510-95156521
2	EBF1	chr5:95156395-95156586	GM12878	blood:	n/a	chr5:95156510-95156521

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:94997987..94999624-chr5:95155659..95157984,2	K562	blood:

Variant related genes	Relation type
GLRX	TF binding region

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10040697	0.84[CHB][hapmap]
rs10069749	0.81[ASN][1000 genomes]
rs10077757	0.82[ASN][1000 genomes]
rs1047420	0.88[CHB][hapmap]
rs12651950	0.83[CHB][hapmap]
rs13361485	0.86[ASN][1000 genomes]
rs13361488	0.86[ASN][1000 genomes]
rs2161313	0.94[CHB][hapmap];0.88[CHD][hapmap];0.83[ASN][1000 genomes]
rs248343	0.94[CHB][hapmap]
rs2547996	0.94[CHB][hapmap];0.88[CHD][hapmap];0.81[ASN][1000 genomes]
rs35234911	0.86[ASN][1000 genomes]
rs3756704	0.94[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs4561	0.89[CHB][hapmap]
rs6556890	0.84[ASN][1000 genomes]
rs6873668	0.82[ASN][1000 genomes]
rs6875489	0.99[ASN][1000 genomes]
rs7725607	0.94[CHB][hapmap];0.87[ASN][1000 genomes]
rs918469	0.94[CHB][hapmap];0.88[CHD][hapmap];0.86[ASN][1000 genomes]
rs918470	1.00[CHB][hapmap];0.86[CHD][hapmap];0.87[ASN][1000 genomes]
rs955688	0.88[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv462255	chr5:95142817-95168155	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv598961	chr5:95142817-95168155	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv882389	chr5:95144952-95173887	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9314160	ANKRD32	cis	cerebellum	SCAN
rs9314160	C5orf27	cis	parietal	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95115400-95157000	Weak transcription	Aorta	Aorta
2	chr5:95121000-95156800	Weak transcription	Brain Germinal Matrix	brain
3	chr5:95130000-95157400	Weak transcription	Ovary	ovary
4	chr5:95146000-95157200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:95146800-95157000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:95148200-95156800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:95148200-95157800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:95148400-95156800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:95151800-95156800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:95152200-95157000	Weak transcription	HUVEC	blood vessel
11	chr5:95152600-95157200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr5:95153000-95157600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr5:95153200-95157600	Transcr. at gene 5' and 3'	Dnd41	blood
14	chr5:95153200-95160400	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr5:95153400-95157000	Weak transcription	Fetal Kidney	kidney
16	chr5:95153400-95157600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr5:95153400-95157600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr5:95153600-95156800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr5:95153600-95156800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr5:95153600-95157200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:95153600-95157200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr5:95153600-95157200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr5:95153600-95157800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:95153800-95157000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:95154000-95156800	Weak transcription	Fetal Stomach	stomach
26	chr5:95154000-95157000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:95154000-95157000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr5:95154000-95157200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:95154000-95157600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr5:95154200-95156800	Weak transcription	Fetal Brain Female	brain
31	chr5:95154200-95156800	Weak transcription	Fetal Lung	lung
32	chr5:95154200-95157000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:95154200-95157000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:95154400-95156800	Enhancers	Primary B cells from peripheral blood	blood
35	chr5:95154400-95157200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr5:95154400-95157200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr5:95154600-95156600	Weak transcription	Brain Anterior Caudate	brain
38	chr5:95154600-95156800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr5:95154600-95156800	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr5:95154800-95156600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:95154800-95156600	Weak transcription	Spleen	Spleen
42	chr5:95154800-95156800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:95154800-95156800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:95154800-95156800	Weak transcription	Brain Substantia Nigra	brain
45	chr5:95154800-95156800	Weak transcription	NH-A	brain
46	chr5:95154800-95157000	Weak transcription	Esophagus	oesophagus
47	chr5:95154800-95157000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr5:95154800-95157000	Weak transcription	Gastric	stomach
49	chr5:95154800-95157000	Weak transcription	Pancreas	Pancrea
50	chr5:95154800-95157000	Weak transcription	Rectal Smooth Muscle	rectum

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