Variant report

Variant	rs310032
Chromosome Location	chr16:81405183-81405184
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81308065..81311392-chr16:81404971..81409467,4	MCF-7	breast:
2	chr16:81402253..81405317-chr16:81407967..81410469,4	MCF-7	breast:
3	chr16:81402764..81406733-chr16:81409051..81413423,3	K562	blood:
4	chr16:81398306..81401709-chr16:81401972..81406985,5	K562	blood:
5	chr16:81398530..81401709-chr16:81403591..81406985,3	K562	blood:
6	chr16:81402764..81405493-chr16:81409051..81411986,2	K562	blood:
7	chr16:81389850..81392744-chr16:81404140..81407123,3	K562	blood:
8	chr16:81380592..81382796-chr16:81403819..81406322,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261609	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11647874	0.87[CEU][hapmap];0.89[GIH][hapmap]
rs12448327	0.95[CEU][hapmap];0.92[GIH][hapmap]
rs17188615	0.87[CEU][hapmap];0.82[GIH][hapmap]
rs182559	0.82[EUR][1000 genomes]
rs1862843	0.91[CEU][hapmap]
rs1895539	0.86[CEU][hapmap]
rs192835	0.82[EUR][1000 genomes]
rs1946285	0.87[CEU][hapmap]
rs1981884	0.87[CEU][hapmap];0.89[GIH][hapmap]
rs2216771	0.87[CEU][hapmap]
rs2446084	0.87[CEU][hapmap]
rs2550738	0.95[CEU][hapmap]
rs2550749	0.91[CEU][hapmap];0.83[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.87[TSI][hapmap]
rs2608555	0.88[GIH][hapmap]
rs2608557	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608559	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2608560	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615701	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs2911441	0.89[CEU][hapmap]
rs310024	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs310025	0.86[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs310035	0.86[CEU][hapmap]
rs4889299	0.83[CEU][hapmap]
rs4889307	0.87[CEU][hapmap];0.89[GIH][hapmap]
rs6564871	0.87[ASW][hapmap];0.91[CEU][hapmap];0.96[GIH][hapmap]
rs7191409	0.87[CEU][hapmap];0.89[GIH][hapmap]
rs7630	0.82[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs9928509	0.83[EUR][1000 genomes]

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	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1061359	chr16:81349826-81471867	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv542992	chr16:81349826-81471867	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv978320	chr16:81400082-81410915	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs310032	GAN	cis	brain	BrainEAC

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81379400-81410600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:81382400-81418400	Weak transcription	Small Intestine	intestine
3	chr16:81384000-81410600	Weak transcription	Fetal Kidney	kidney
4	chr16:81384200-81434600	Weak transcription	NHLF	lung
5	chr16:81384200-81437400	Weak transcription	Fetal Brain Male	brain
6	chr16:81385000-81406200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:81385400-81410800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr16:81385600-81418200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:81386400-81424200	Weak transcription	Psoas Muscle	Psoas
10	chr16:81387000-81428600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:81387200-81407000	Strong transcription	Duodenum Mucosa	Duodenum
12	chr16:81387200-81408200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr16:81387600-81405800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr16:81387600-81415200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:81388000-81407600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:81388800-81410200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr16:81390200-81407200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr16:81390600-81405200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr16:81390600-81407800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr16:81391200-81417600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr16:81392000-81411000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr16:81392000-81428400	Weak transcription	Fetal Heart	heart
23	chr16:81392400-81408200	Strong transcription	Dnd41	blood
24	chr16:81394400-81405600	Strong transcription	Fetal Stomach	stomach
25	chr16:81394400-81406400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr16:81395200-81406800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr16:81395400-81405400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr16:81395400-81407200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr16:81395600-81406200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr16:81397400-81426400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr16:81399000-81405200	Weak transcription	Lung	lung
32	chr16:81399000-81410600	Weak transcription	Pancreas	Pancrea
33	chr16:81399000-81417400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr16:81399200-81409600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr16:81399200-81431000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr16:81399400-81410400	Weak transcription	NH-A	brain
37	chr16:81399600-81410600	Weak transcription	Spleen	Spleen
38	chr16:81399600-81413000	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr16:81399800-81414000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr16:81400000-81405600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr16:81400000-81410400	Weak transcription	Brain Hippocampus Middle	brain
42	chr16:81400000-81410400	Weak transcription	Brain Substantia Nigra	brain
43	chr16:81400000-81410400	Weak transcription	Fetal Thymus	thymus
44	chr16:81400000-81410800	Weak transcription	Fetal Brain Female	brain
45	chr16:81400000-81427200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr16:81400000-81434600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr16:81400200-81410400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr16:81400200-81410600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr16:81400600-81405600	Strong transcription	Colonic Mucosa	Colon
50	chr16:81400800-81405600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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