Variant report

Variant	rs13336249
Chromosome Location	chr16:12433289-12433290
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12426504..12430184-chr16:12432340..12435917,5	K562	blood:
2	chr16:12426103..12428836-chr16:12432217..12434096,4	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10500380	1.00[GIH][hapmap]
rs11075063	0.81[EUR][1000 genomes]
rs11861545	0.81[EUR][1000 genomes]
rs11863659	0.82[AMR][1000 genomes]
rs11866191	0.81[EUR][1000 genomes]
rs13336090	1.00[CEU][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13338250	0.81[EUR][1000 genomes]
rs158474	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs158475	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs209837	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7192378	0.81[EUR][1000 genomes]
rs8053492	0.81[EUR][1000 genomes]
rs8061507	0.81[EUR][1000 genomes]
rs9922297	0.81[EUR][1000 genomes]
rs9924462	0.81[EUR][1000 genomes]
rs9932620	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv833141	chr16:12314613-12487992	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv457411	chr16:12363304-12520199	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv571462	chr16:12363304-12520199	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv571463	chr16:12367791-12783535	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1045385	chr16:12376389-12517006	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv542748	chr16:12376389-12517006	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv905349	chr16:12408750-12445863	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv571464	chr16:12423557-12449778	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12371400-12456800	Weak transcription	Aorta	Aorta
2	chr16:12405600-12442400	Weak transcription	Spleen	Spleen
3	chr16:12410000-12456600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:12410200-12464800	Weak transcription	Gastric	stomach
5	chr16:12415400-12435400	Weak transcription	Pancreas	Pancrea
6	chr16:12416800-12438600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr16:12418400-12433400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr16:12418400-12433400	Weak transcription	Brain Substantia Nigra	brain
9	chr16:12418400-12438400	Weak transcription	Brain Anterior Caudate	brain
10	chr16:12423800-12433600	Weak transcription	HSMMtube	muscle
11	chr16:12425000-12435400	Weak transcription	Right Atrium	heart
12	chr16:12425200-12433600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr16:12425200-12433600	Weak transcription	Ovary	ovary
14	chr16:12425200-12442200	Weak transcription	Psoas Muscle	Psoas
15	chr16:12425400-12433400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr16:12425400-12442000	Weak transcription	GM12878-XiMat	blood
17	chr16:12426800-12433800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr16:12426800-12434800	Weak transcription	Fetal Muscle Leg	muscle
19	chr16:12426800-12447200	Weak transcription	Lung	lung
20	chr16:12428200-12435400	Weak transcription	Primary T cells from cord blood	blood
21	chr16:12428400-12442400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr16:12428400-12461200	Weak transcription	Thymus	Thymus
23	chr16:12429000-12433600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr16:12429200-12434000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr16:12430000-12435400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr16:12430400-12433600	Weak transcription	Colon Smooth Muscle	Colon
27	chr16:12430400-12436600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr16:12430600-12435200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr16:12431000-12433600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr16:12432000-12433400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr16:12432000-12433400	Weak transcription	NHEK	skin
32	chr16:12432000-12433600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr16:12432200-12434200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr16:12432200-12435000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr16:12432400-12433600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr16:12432400-12433600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr16:12432400-12433600	Weak transcription	HUVEC	blood vessel
38	chr16:12432400-12433800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr16:12432400-12434200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr16:12432400-12435200	Weak transcription	Right Ventricle	heart
41	chr16:12432400-12435600	Weak transcription	Left Ventricle	heart
42	chr16:12432400-12436800	Weak transcription	Fetal Heart	heart
43	chr16:12432400-12437200	Weak transcription	Primary B cells from cord blood	blood
44	chr16:12432600-12433800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr16:12432600-12438600	Weak transcription	Adipose Nuclei	Adipose
46	chr16:12433000-12433400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr16:12433000-12433400	Enhancers	Osteobl	bone
48	chr16:12433000-12434200	Enhancers	NH-A	brain
49	chr16:12433000-12437200	Weak transcription	Fetal Brain Male	brain
50	chr16:12433200-12433400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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