Variant report

Variant	rs73323255
Chromosome Location	chr12:62861960-62861961
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62859264..62862504-chr12:62994446..62997723,4	K562	blood:
2	chr12:62860603..62862408-chr12:62877064..62881508,4	MCF-7	breast:
3	chr12:62859326..62863326-chr12:62876630..62881311,5	K562	blood:
4	chr12:62652867..62655436-chr12:62859516..62862606,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257354	Chromatin interaction
ENSG00000198673	Chromatin interaction
ENSG00000199179	Chromatin interaction
ENSG00000257568	Chromatin interaction
ENSG00000221949	Chromatin interaction
ENSG00000135655	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10506442	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10506443	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12146793	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12371458	0.83[ASN][1000 genomes]
rs12423344	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12424006	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12427111	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17097966	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17098038	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17120341	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1982991	0.83[ASN][1000 genomes]
rs4763172	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4763173	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4763176	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57715507	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59191400	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61556144	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61919477	0.80[ASN][1000 genomes]
rs61919478	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61919479	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61919485	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61921904	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61921905	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61921908	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61921909	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs61921910	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61921911	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61921913	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61921914	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7136696	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7307786	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7309338	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7316437	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7958721	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7964791	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7965328	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7969992	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv899158	chr12:62783967-62937259	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv899159	chr12:62783967-62945245	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv821671	chr12:62794304-63007964	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 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	chr12:62859400-62862600	Active TSS	Duodenum Mucosa	Duodenum
2	chr12:62859400-62863600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:62859600-62862000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr12:62859600-62862000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:62859600-62862000	Active TSS	Fetal Muscle Trunk	muscle
6	chr12:62859600-62862200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:62859600-62862200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:62859600-62862200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:62859600-62862200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:62859600-62862200	Active TSS	Aorta	Aorta
11	chr12:62859600-62862200	Active TSS	Right Ventricle	heart
12	chr12:62859600-62862600	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr12:62859600-62862600	Active TSS	Fetal Intestine Large	intestine
14	chr12:62859600-62862600	Active TSS	Ovary	ovary
15	chr12:62859600-62862600	Active TSS	NH-A	brain
16	chr12:62859600-62863000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:62859600-62863200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:62859600-62863200	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr12:62859800-62862000	Active TSS	Colon Smooth Muscle	Colon
20	chr12:62859800-62862000	Active TSS	Placenta	Placenta
21	chr12:62859800-62862200	Active TSS	Muscle Satellite Cultured Cells	--
22	chr12:62859800-62862200	Active TSS	Gastric	stomach
23	chr12:62859800-62862200	Active TSS	Left Ventricle	heart
24	chr12:62859800-62862400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:62859800-62862600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:62859800-62862600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:62859800-62862600	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr12:62859800-62862600	Active TSS	Right Atrium	heart
29	chr12:62859800-62862600	Active TSS	NHDF-Ad	bronchial
30	chr12:62859800-62862800	Active TSS	Pancreas	Pancrea
31	chr12:62859800-62862800	Active TSS	K562	blood
32	chr12:62859800-62863000	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr12:62859800-62863000	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr12:62859800-62863400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:62860000-62862000	Active TSS	Fetal Intestine Small	intestine
36	chr12:62860000-62862200	Active TSS	NHEK	skin
37	chr12:62860000-62862400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:62860000-62862400	Active TSS	Fetal Stomach	stomach
39	chr12:62860000-62862600	Active TSS	A549	lung
40	chr12:62860000-62862600	Active TSS	Hela-S3	cervix
41	chr12:62860000-62863000	Active TSS	HSMM	muscle
42	chr12:62860000-62863000	Active TSS	NHLF	lung
43	chr12:62860000-62863200	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr12:62860000-62863600	Active TSS	GM12878-XiMat	blood
45	chr12:62860200-62862000	Active TSS	Fetal Thymus	thymus
46	chr12:62860200-62862800	Active TSS	HMEC	breast
47	chr12:62860400-62862600	Active TSS	Osteobl	bone
48	chr12:62861000-62862200	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr12:62861000-62862200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr12:62861000-62862200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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