Variant report

Variant	rs1669921
Chromosome Location	chr12:42873307-42873308
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42851102..42853686-chr12:42871933..42874605,2	K562	blood:
2	chr12:42837129..42840023-chr12:42871867..42874366,2	K562	blood:

Variant related genes	Relation type
ENSG00000257225	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11181522	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1669915	0.93[EUR][1000 genomes]
rs1669916	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1669917	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1669926	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1669927	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1669929	0.95[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1796361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1796364	0.83[ASN][1000 genomes]
rs1796390	1.00[CEU][hapmap];0.94[GIH][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1796391	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2708068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42831800-42876400	Weak transcription	Psoas Muscle	Psoas
2	chr12:42836000-42875800	Weak transcription	Stomach Mucosa	stomach
3	chr12:42860200-42876200	Weak transcription	Gastric	stomach
4	chr12:42861400-42876000	Weak transcription	Lung	lung
5	chr12:42862800-42876000	Weak transcription	Aorta	Aorta
6	chr12:42863400-42874200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:42863400-42875600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:42863400-42876000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:42864400-42876000	Weak transcription	Spleen	Spleen
10	chr12:42864800-42875600	Weak transcription	Fetal Stomach	stomach
11	chr12:42866200-42876000	Enhancers	Primary B cells from peripheral blood	blood
12	chr12:42867000-42875800	Weak transcription	Right Atrium	heart
13	chr12:42867200-42874600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:42867200-42875800	Weak transcription	Ovary	ovary
15	chr12:42867400-42874600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:42869200-42874400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:42869200-42874400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:42869200-42875400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:42869200-42875400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:42869400-42874400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:42869400-42874400	Weak transcription	Osteobl	bone
22	chr12:42869400-42874600	Weak transcription	Left Ventricle	heart
23	chr12:42869400-42875200	Weak transcription	Fetal Muscle Leg	muscle
24	chr12:42869400-42875200	Weak transcription	NHLF	lung
25	chr12:42869400-42875800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:42869400-42875800	Weak transcription	HSMM	muscle
27	chr12:42869400-42876000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:42869400-42876000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr12:42869400-42876400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:42869600-42874200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:42869600-42874400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr12:42869600-42874400	Weak transcription	NH-A	brain
33	chr12:42869600-42874600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:42869800-42874400	Weak transcription	Right Ventricle	heart
35	chr12:42869800-42876000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr12:42870000-42874200	Weak transcription	HMEC	breast
37	chr12:42871400-42873400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:42871400-42874400	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr12:42871400-42874400	Enhancers	Primary B cells from cord blood	blood
40	chr12:42871600-42875000	Enhancers	HUVEC	blood vessel
41	chr12:42871800-42875400	Enhancers	Fetal Heart	heart
42	chr12:42872000-42875200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:42872200-42873400	Enhancers	H9 Cell Line	embryonic stem cell
44	chr12:42872200-42875200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:42872400-42873400	Enhancers	GM12878-XiMat	blood
46	chr12:42872400-42875600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:42872600-42873400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:42873000-42873400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr12:42873000-42873400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:42873000-42873400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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