Variant report

Variant	rs2882856
Chromosome Location	chr12:30861276-30861277
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30860811..30862985-chr12:30865141..30866984,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11608803	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613738	1.00[GIH][hapmap];0.88[TSI][hapmap];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17486840	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17560141	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687846	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17687964	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17688437	1.00[CHB][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17688567	0.88[CEU][hapmap];0.81[TSI][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17739338	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1863895	1.00[ASW][hapmap]
rs2099029	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4459394	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931357	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931358	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931359	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4931363	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55957969	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300410	1.00[CHB][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73077865	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077869	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077870	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077877	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077884	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077887	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077893	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079959	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079962	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079965	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079992	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73079995	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73079996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30849200-30881600	Weak transcription	Right Ventricle	heart
2	chr12:30849400-30862800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:30849400-30866200	Weak transcription	Fetal Brain Male	brain
4	chr12:30849600-30861800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:30849600-30861800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:30849600-30861800	Weak transcription	NHEK	skin
7	chr12:30849600-30862000	Weak transcription	Brain Germinal Matrix	brain
8	chr12:30849600-30862000	Weak transcription	HMEC	breast
9	chr12:30849600-30862200	Weak transcription	Brain Anterior Caudate	brain
10	chr12:30849600-30862200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:30849600-30862400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:30849600-30862600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:30849600-30881200	Weak transcription	Psoas Muscle	Psoas
14	chr12:30849600-30881600	Weak transcription	Aorta	Aorta
15	chr12:30849800-30861800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr12:30849800-30861800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:30849800-30862000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:30849800-30862000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr12:30849800-30862000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:30849800-30862200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr12:30849800-30862400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:30849800-30862400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:30849800-30862400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:30849800-30862400	Weak transcription	Lung	lung
25	chr12:30849800-30862600	Weak transcription	Ovary	ovary
26	chr12:30849800-30862800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:30849800-30862800	Weak transcription	Brain Substantia Nigra	brain
28	chr12:30849800-30862800	Weak transcription	Left Ventricle	heart
29	chr12:30849800-30862800	Weak transcription	Pancreas	Pancrea
30	chr12:30849800-30867000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:30850200-30861800	Weak transcription	Dnd41	blood
32	chr12:30853400-30862800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:30853600-30862600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:30853600-30862800	Weak transcription	Fetal Stomach	stomach
35	chr12:30853800-30867000	Weak transcription	Esophagus	oesophagus
36	chr12:30854000-30862000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:30854000-30862600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:30854200-30861800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:30854200-30861800	Weak transcription	Brain Angular Gyrus	brain
40	chr12:30854200-30861800	Weak transcription	Brain Hippocampus Middle	brain
41	chr12:30854200-30861800	Weak transcription	HSMM	muscle
42	chr12:30854200-30862000	Weak transcription	HSMMtube	muscle
43	chr12:30854200-30862200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr12:30854200-30862800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:30854400-30862000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:30854400-30862000	Weak transcription	Osteobl	bone
47	chr12:30854400-30862800	Weak transcription	NHDF-Ad	bronchial
48	chr12:30854600-30862800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr12:30854600-30867000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:30855800-30862400	Weak transcription	Primary B cells from peripheral blood	blood

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