Variant report

Variant	rs72829675
Chromosome Location	chr2:112869762-112869763
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	chr2:112811397..112814372-chr2:112868078..112870931,3	K562	blood:
2	chr2:112869211..112870960-chr2:112874200..112876971,2	K562	blood:

Variant related genes	Relation type
ENSG00000153214	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12471463	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28579271	0.87[AFR][1000 genomes]
rs72829648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72829656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72829680	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][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	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv3333591	chr2:112669320-112892618	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1014787	chr2:112679182-112908416	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv535893	chr2:112679182-112908416	Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112816800-112871400	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr2:112822800-112876800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:112834600-112871200	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr2:112835800-112883200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:112836000-112874400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:112845400-112875200	Weak transcription	Right Ventricle	heart
7	chr2:112851200-112881600	Weak transcription	Stomach Mucosa	stomach
8	chr2:112852000-112871200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:112853200-112871200	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr2:112853200-112871200	Strong transcription	Duodenum Mucosa	Duodenum
11	chr2:112853400-112871200	Strong transcription	Placenta	Placenta
12	chr2:112855400-112871200	Strong transcription	NH-A	brain
13	chr2:112856800-112870200	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:112856800-112874200	Weak transcription	Lung	lung
15	chr2:112856800-112875600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:112856800-112881800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:112857000-112883000	Weak transcription	Hela-S3	cervix
18	chr2:112857000-112891200	Weak transcription	Small Intestine	intestine
19	chr2:112857200-112877600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:112859600-112877200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:112859800-112870600	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:112860200-112871200	Strong transcription	Osteobl	bone
23	chr2:112863600-112870800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr2:112863800-112871200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:112864600-112871000	Strong transcription	HSMM	muscle
26	chr2:112865200-112870800	ZNF genes & repeats	GM12878-XiMat	blood
27	chr2:112865400-112870400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:112865400-112871000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:112865400-112871200	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:112865800-112870400	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:112866000-112870200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:112866200-112879000	Weak transcription	Psoas Muscle	Psoas
33	chr2:112866600-112870400	ZNF genes & repeats	K562	blood
34	chr2:112866600-112871600	Weak transcription	Fetal Brain Male	brain
35	chr2:112866800-112869800	Weak transcription	Brain Anterior Caudate	brain
36	chr2:112866800-112871200	Strong transcription	Adipose Nuclei	Adipose
37	chr2:112866800-112871200	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr2:112867000-112870200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
39	chr2:112867000-112871200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:112867000-112871200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:112867000-112871200	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr2:112867200-112870600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:112867200-112871200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:112867200-112871200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr2:112867200-112871200	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:112867200-112871200	Strong transcription	HUVEC	blood vessel
47	chr2:112867200-112871200	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr2:112867200-112874400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:112867200-112877200	Weak transcription	Brain Substantia Nigra	brain
50	chr2:112867200-112880400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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