Variant report

Variant	rs11645581
Chromosome Location	chr16:30351624-30351625
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	FOXA1	chr16:30351110-30351656	HepG2	liver:	n/a	n/a
2	FOXA2	chr16:30351401-30351650	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:30345514..30349002-chr16:30349093..30352265,4	MCF-7	breast:
2	chr16:30347893..30349482-chr16:30349670..30352076,2	K562	blood:

Variant related genes	Relation type
ENSG00000183604	TF binding region
ENSG00000183604	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11642676	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11644392	0.95[ASN][1000 genomes]
rs11646130	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11862806	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11863150	0.87[EUR][1000 genomes]
rs12446288	0.86[EUR][1000 genomes]
rs12447833	0.90[EUR][1000 genomes]
rs12922786	0.93[ASN][1000 genomes]
rs12930787	0.84[EUR][1000 genomes]
rs2911213	0.91[ASN][1000 genomes]
rs35480350	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4471699	0.93[ASN][1000 genomes]
rs4787642	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4787643	0.90[EUR][1000 genomes]
rs4788408	0.98[ASN][1000 genomes]
rs4788409	0.90[EUR][1000 genomes]
rs4788413	0.81[EUR][1000 genomes]
rs62055459	0.88[EUR][1000 genomes]
rs6565178	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6565180	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6565182	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6565183	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68051857	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7186541	0.95[ASN][1000 genomes]
rs7195216	0.95[ASN][1000 genomes]
rs7203359	0.83[EUR][1000 genomes]
rs73532600	0.85[EUR][1000 genomes]
rs7404371	0.93[ASN][1000 genomes]
rs8046445	0.88[EUR][1000 genomes]
rs8049108	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8050176	0.98[ASN][1000 genomes]
rs8051096	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9921711	0.82[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	nsv1061165	chr16:29657389-30363743	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
2	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
3	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
4	esv2758420	chr16:30073955-30383280	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
5	esv2758642	chr16:30073955-30383280	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
6	esv1829730	chr16:30192562-30359312	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11645581	IMAA///LOC440345///LOC440354///LOC595101///	N/A	lymphoblastoid	RTeQTL
rs11645581	BOLA2///LOC440354///LOC595101	N/A	lymphoblastoid	RTeQTL

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30346800-30361800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:30347200-30352000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:30347200-30361600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr16:30347400-30360600	Weak transcription	Fetal Lung	lung
5	chr16:30347400-30361000	Weak transcription	Fetal Muscle Leg	muscle
6	chr16:30347400-30362000	Weak transcription	Brain Substantia Nigra	brain
7	chr16:30347400-30362200	Weak transcription	Aorta	Aorta
8	chr16:30347400-30363400	Weak transcription	Brain Angular Gyrus	brain
9	chr16:30347600-30352000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr16:30347600-30352000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr16:30347600-30352000	Weak transcription	Esophagus	oesophagus
12	chr16:30347600-30353000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr16:30347600-30357000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr16:30347600-30358600	Weak transcription	Fetal Stomach	stomach
15	chr16:30347600-30360600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr16:30347600-30360600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr16:30347600-30360800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr16:30347600-30361000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr16:30347600-30361200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr16:30347600-30361600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr16:30347600-30361600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr16:30347600-30361600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr16:30347600-30361600	Weak transcription	Brain Anterior Caudate	brain
24	chr16:30347600-30361600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr16:30347600-30361800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr16:30347600-30361800	Weak transcription	Gastric	stomach
27	chr16:30347600-30362000	Weak transcription	Colonic Mucosa	Colon
28	chr16:30347600-30362200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr16:30347600-30363000	Weak transcription	Psoas Muscle	Psoas
30	chr16:30347800-30352000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr16:30347800-30352000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr16:30347800-30352000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr16:30347800-30353000	Weak transcription	HSMM	muscle
34	chr16:30347800-30354400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr16:30347800-30359000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr16:30347800-30361000	Weak transcription	Primary T cells from cord blood	blood
37	chr16:30347800-30361000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr16:30347800-30361000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr16:30347800-30361200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr16:30347800-30361600	Weak transcription	Lung	lung
41	chr16:30347800-30361600	Weak transcription	Right Ventricle	heart
42	chr16:30347800-30361600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr16:30347800-30361800	Weak transcription	Left Ventricle	heart
44	chr16:30348000-30361000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr16:30348000-30361200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr16:30348000-30361600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr16:30348000-30361800	Weak transcription	A549	lung
48	chr16:30348800-30361000	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr16:30348800-30361400	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr16:30349000-30352000	Weak transcription	Primary T cells fromperipheralblood	blood

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