Variant report

Variant	rs6565180
Chromosome Location	chr16:30361341-30361342
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:30352266..30354018-chr16:30359193..30362629,3	MCF-7	breast:
2	chr16:30347434..30350400-chr16:30361325..30364299,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11642676	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11644392	0.88[ASN][1000 genomes]
rs11645581	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11646130	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11862806	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11863150	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12446288	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12447833	0.88[EUR][1000 genomes]
rs12922786	0.91[ASN][1000 genomes]
rs12930787	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2911213	0.89[ASN][1000 genomes]
rs35480350	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4471699	0.90[ASN][1000 genomes]
rs4787642	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4787643	0.88[EUR][1000 genomes]
rs4788408	0.91[ASN][1000 genomes]
rs4788409	0.88[EUR][1000 genomes]
rs62055459	0.85[EUR][1000 genomes]
rs6565178	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6565182	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6565183	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68051857	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7186541	0.88[ASN][1000 genomes]
rs7195216	0.88[ASN][1000 genomes]
rs7203359	0.81[EUR][1000 genomes]
rs73532600	0.83[EUR][1000 genomes]
rs7404371	0.91[ASN][1000 genomes]
rs8046445	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8049108	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8050176	0.91[ASN][1000 genomes]
rs8051096	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9921711	0.81[EUR][1000 genomes]

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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6565180	BOLA2///LOC440354///LOC595101	N/A	lymphoblastoid	RTeQTL
rs6565180	IMAA///LOC440345///LOC440354///LOC595101///	N/A	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30346800-30361800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:30347200-30361600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr16:30347400-30362000	Weak transcription	Brain Substantia Nigra	brain
4	chr16:30347400-30362200	Weak transcription	Aorta	Aorta
5	chr16:30347400-30363400	Weak transcription	Brain Angular Gyrus	brain
6	chr16:30347600-30361600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr16:30347600-30361600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr16:30347600-30361600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr16:30347600-30361600	Weak transcription	Brain Anterior Caudate	brain
10	chr16:30347600-30361600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr16:30347600-30361800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr16:30347600-30361800	Weak transcription	Gastric	stomach
13	chr16:30347600-30362000	Weak transcription	Colonic Mucosa	Colon
14	chr16:30347600-30362200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr16:30347600-30363000	Weak transcription	Psoas Muscle	Psoas
16	chr16:30347800-30361600	Weak transcription	Lung	lung
17	chr16:30347800-30361600	Weak transcription	Right Ventricle	heart
18	chr16:30347800-30361600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr16:30347800-30361800	Weak transcription	Left Ventricle	heart
20	chr16:30348000-30361600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr16:30348000-30361800	Weak transcription	A549	lung
22	chr16:30348800-30361400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr16:30349000-30361600	Weak transcription	Pancreas	Pancrea
24	chr16:30349200-30361600	Weak transcription	Spleen	Spleen
25	chr16:30349200-30362000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr16:30350600-30361600	Weak transcription	Adipose Nuclei	Adipose
27	chr16:30351000-30361600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:30352200-30361600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:30352200-30361600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr16:30352400-30362000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr16:30353400-30361800	Weak transcription	HSMM	muscle
32	chr16:30354200-30361800	Weak transcription	Brain Germinal Matrix	brain
33	chr16:30354600-30361600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr16:30357600-30361600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr16:30357800-30361800	Weak transcription	NH-A	brain
36	chr16:30358200-30361600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr16:30358400-30361600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr16:30358600-30361600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr16:30358600-30361600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr16:30358800-30361600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr16:30358800-30361600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr16:30358800-30361600	Weak transcription	Fetal Intestine Large	intestine
43	chr16:30358800-30362200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr16:30359000-30361800	Weak transcription	NHDF-Ad	bronchial
45	chr16:30359000-30361800	Weak transcription	NHLF	lung
46	chr16:30359000-30362000	Weak transcription	HSMMtube	muscle
47	chr16:30359000-30363000	Weak transcription	Stomach Mucosa	stomach
48	chr16:30359200-30361800	Weak transcription	Colon Smooth Muscle	Colon
49	chr16:30359200-30361800	Weak transcription	Osteobl	bone
50	chr16:30359200-30362200	Weak transcription	Small Intestine	intestine

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