Variant report

Variant	rs12447833
Chromosome Location	chr16:30390314-30390315
allele	C/T
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30389121..30392604-chr16:30668490..30671197,4	K562	blood:
2	chr16:30385968..30392864-chr16:30403786..30414800,30	MCF-7	breast:
3	chr16:30388749..30390462-chr16:30709346..30711383,3	MCF-7	breast:
4	chr16:30389651..30392017-chr16:30545049..30548383,3	K562	blood:
5	chr16:30389715..30395001-chr16:30417296..30421020,7	K562	blood:
6	chr16:30388636..30390782-chr16:30456126..30458757,2	K562	blood:
7	chr16:30387323..30391526-chr16:30418280..30422943,8	MCF-7	breast:
8	chr16:30386182..30395144-chr16:30402818..30414477,44	MCF-7	breast:
9	chr16:30104324..30107444-chr16:30387939..30391317,4	K562	blood:
10	chr16:30365100..30369727-chr16:30387622..30391726,6	MCF-7	breast:
11	chr16:30193615..30195273-chr16:30388746..30390987,2	K562	blood:
12	chr16:30387676..30396507-chr16:30404234..30411930,28	K562	blood:
13	chr16:30387917..30393231-chr16:30417396..30420787,10	MCF-7	breast:
14	chr16:30364152..30368341-chr16:30388051..30392327,13	K562	blood:
15	chr16:30388636..30392264-chr16:30455799..30458757,3	K562	blood:
16	chr16:30364024..30368341-chr16:30387690..30394486,12	K562	blood:
17	chr16:30389708..30391619-chr16:30771685..30773399,2	K562	blood:
18	chr16:30128056..30129956-chr16:30388076..30390685,2	K562	blood:
19	chr16:30384243..30394929-chr16:30405602..30409736,14	K562	blood:
20	chr16:30378594..30387256-chr16:30387352..30391288,21	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169221	Chromatin interaction
ENSG00000260219	Chromatin interaction
ENSG00000196118	Chromatin interaction
ENSG00000169955	Chromatin interaction
ENSG00000261459	Chromatin interaction
ENSG00000179965	Chromatin interaction
ENSG00000103549	Chromatin interaction
ENSG00000180096	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000102882	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000090238	Chromatin interaction
ENSG00000235560	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000102879	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000169217	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11640950	0.91[AFR][1000 genomes]
rs11642676	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11645581	0.90[EUR][1000 genomes]
rs11646130	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11862806	0.88[EUR][1000 genomes]
rs11863150	0.92[EUR][1000 genomes]
rs12446288	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12921440	0.92[ASN][1000 genomes]
rs12930787	0.87[EUR][1000 genomes]
rs13333093	0.92[ASN][1000 genomes]
rs35480350	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35598865	0.88[AFR][1000 genomes]
rs3574	0.92[ASN][1000 genomes]
rs4465620	0.80[EUR][1000 genomes]
rs4787642	0.93[EUR][1000 genomes]
rs4787643	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788409	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788410	0.82[EUR][1000 genomes]
rs4788411	0.83[EUR][1000 genomes]
rs4788413	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4788414	0.85[EUR][1000 genomes]
rs62055459	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6565180	0.88[EUR][1000 genomes]
rs6565182	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6565183	0.91[EUR][1000 genomes]
rs68051857	0.86[EUR][1000 genomes]
rs7203359	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73532600	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8045252	0.91[AFR][1000 genomes]
rs8045570	0.91[AFR][1000 genomes]
rs8046445	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8049108	0.91[EUR][1000 genomes]
rs8050812	0.83[ASN][1000 genomes]
rs8051096	0.81[EUR][1000 genomes]
rs8060853	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9888967	0.92[ASN][1000 genomes]
rs9921711	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1056897	chr16:30363683-30457504	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases
4	nsv905724	chr16:30368591-30438930	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
6	nsv827612	chr16:30371538-30429862	Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
7	nsv905725	chr16:30376959-30420851	Enhancers Weak transcription Flanking Active TSS Active TSS Strong 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	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12447833	IMAA///LOC440345///LOC440354///LOC595101///	N/A	lymphoblastoid	RTeQTL
rs12447833	BOLA2///LOC440354///LOC595101	N/A	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30386200-30390800	Active TSS	HSMMtube	muscle
2	chr16:30388600-30390600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
3	chr16:30388600-30390600	Flanking Active TSS	Fetal Thymus	thymus
4	chr16:30388600-30390800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr16:30388600-30390800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr16:30388600-30391000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
7	chr16:30388600-30391000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr16:30388600-30391000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr16:30388600-30391000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr16:30388600-30391000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr16:30388600-30391200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:30388800-30390400	Active TSS	Psoas Muscle	Psoas
13	chr16:30388800-30390800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr16:30388800-30390800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr16:30388800-30390800	Active TSS	Fetal Kidney	kidney
16	chr16:30388800-30391000	Active TSS	H9 Cell Line	embryonic stem cell
17	chr16:30388800-30391000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr16:30389000-30390400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr16:30389000-30390400	Active TSS	Brain Angular Gyrus	brain
20	chr16:30389000-30390400	Active TSS	Brain Anterior Caudate	brain
21	chr16:30389000-30390400	Active TSS	Brain Cingulate Gyrus	brain
22	chr16:30389000-30390400	Active TSS	Brain Hippocampus Middle	brain
23	chr16:30389000-30390400	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr16:30389000-30390400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr16:30389000-30390400	Active TSS	Brain Substantia Nigra	brain
26	chr16:30389000-30390400	Active TSS	Esophagus	oesophagus
27	chr16:30389000-30390400	Active TSS	Fetal Intestine Large	intestine
28	chr16:30389000-30390400	Active TSS	Left Ventricle	heart
29	chr16:30389000-30390400	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr16:30389000-30390400	Active TSS	Rectal Smooth Muscle	rectum
31	chr16:30389000-30390400	Active TSS	Right Ventricle	heart
32	chr16:30389000-30390400	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr16:30389000-30390400	Active TSS	NHDF-Ad	bronchial
34	chr16:30389000-30390400	Active TSS	Osteobl	bone
35	chr16:30389000-30390600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr16:30389000-30390600	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr16:30389000-30390600	Active TSS	Primary T cells from cord blood	blood
38	chr16:30389000-30390600	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr16:30389000-30390600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr16:30389000-30390600	Active TSS	Aorta	Aorta
41	chr16:30389000-30390600	Active TSS	Colon Smooth Muscle	Colon
42	chr16:30389000-30390600	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr16:30389000-30390600	Active TSS	Small Intestine	intestine
44	chr16:30389000-30390600	Active TSS	A549	lung
45	chr16:30389000-30390600	Active TSS	NHLF	lung
46	chr16:30389000-30390800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr16:30389000-30391000	Active TSS	H1 Cell Line	embryonic stem cell
48	chr16:30389000-30391000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr16:30389000-30391000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr16:30389000-30391000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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