Variant report

Variant	rs67923925
Chromosome Location	chr2:112819601-112819602
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:112818714..112821811-chr2:112824906..112828402,3	MCF-7	breast:
2	chr2:112817222..112820488-chr2:112832870..112835858,3	K562	blood:
3	chr2:112819134..112821985-chr2:112825483..112827864,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs3811642	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4525701	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55641603	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60348850	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6717702	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7567842	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1002027	chr2:112679182-112861534	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	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
8	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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112814200-112821000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:112814200-112827000	Weak transcription	Psoas Muscle	Psoas
3	chr2:112814200-112835400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:112814200-112849800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:112814200-112859800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:112814400-112820400	Weak transcription	Aorta	Aorta
7	chr2:112814400-112821400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:112814400-112831600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:112814600-112820600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:112814600-112820600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:112814600-112821600	Weak transcription	Fetal Brain Female	brain
12	chr2:112814600-112829400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:112814800-112820600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:112814800-112823800	Weak transcription	Brain Substantia Nigra	brain
15	chr2:112814800-112826800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:112814800-112832200	Weak transcription	A549	lung
17	chr2:112814800-112842000	Weak transcription	Fetal Heart	heart
18	chr2:112815000-112822000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:112815000-112824000	Weak transcription	Brain Germinal Matrix	brain
20	chr2:112815200-112820600	Weak transcription	Adipose Nuclei	Adipose
21	chr2:112815200-112822200	Weak transcription	Pancreas	Pancrea
22	chr2:112815200-112823200	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:112815200-112823600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:112815200-112823600	Weak transcription	Fetal Brain Male	brain
25	chr2:112815200-112833200	Weak transcription	Hela-S3	cervix
26	chr2:112815800-112822600	Strong transcription	HSMM	muscle
27	chr2:112816000-112820200	Weak transcription	Thymus	Thymus
28	chr2:112816000-112825000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:112816000-112833800	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:112816200-112821000	Weak transcription	NHLF	lung
31	chr2:112816400-112822200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:112816400-112823000	Strong transcription	Primary B cells from peripheral blood	blood
33	chr2:112816400-112827200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr2:112816400-112829600	Strong transcription	Placenta	Placenta
35	chr2:112816600-112820200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:112816600-112820200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:112816600-112820200	Weak transcription	Ovary	ovary
38	chr2:112816600-112820600	Weak transcription	Left Ventricle	heart
39	chr2:112816600-112820600	Weak transcription	Spleen	Spleen
40	chr2:112816600-112820800	Weak transcription	Gastric	stomach
41	chr2:112816600-112822200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:112816600-112825200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:112816600-112834200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr2:112816600-112866200	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr2:112816800-112820400	Strong transcription	Primary hematopoietic stem cells	blood
46	chr2:112816800-112823200	Strong transcription	Osteobl	bone
47	chr2:112816800-112871400	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr2:112817000-112820400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:112817000-112827000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:112817000-112827400	Strong transcription	Fetal Stomach	stomach

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