Variant report

Variant	rs36230524
Chromosome Location	chr12:21655636-21655637
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr12:21653059-21655687	SK-N-SH	brain:	n/a	n/a
2	REST	chr12:21653776-21655682	H1-neurons	neurons:	n/a	chr12:21654821-21654831 chr12:21654813-21654833 chr12:21654300-21654313 chr12:21654834-21654843 chr12:21654813-21654833
3	POLR2A	chr12:21653130-21656931	IMR90	lung:	n/a	n/a
4	POLR2A	chr12:21653306-21656829	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:21653418-21656273	GM12878	blood:	n/a	n/a
6	POLR2A	chr12:21653363-21655706	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:21654957..21656539-chr12:21677945..21680757,2	K562	blood:

Variant related genes	Relation type
RECQL	TF binding region
ENSG00000134548	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1060126	0.82[ASN][1000 genomes]
rs1061627	0.82[ASN][1000 genomes]
rs11831978	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835261	1.00[ASN][1000 genomes]
rs11836710	0.82[EUR][1000 genomes]
rs1860947	1.00[ASN][1000 genomes]
rs2080102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2080103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2080104	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2417993	1.00[EUR][1000 genomes]
rs3759232	0.90[ASN][1000 genomes]
rs56256037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306899	1.00[ASN][1000 genomes]
rs73071364	0.82[EUR][1000 genomes]
rs73071368	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73071369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73071373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73071376	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73071386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73071402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079372	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73079387	1.00[EUR][1000 genomes]
rs73079391	1.00[EUR][1000 genomes]
rs73079397	1.00[EUR][1000 genomes]
rs73079401	1.00[EUR][1000 genomes]
rs73082666	1.00[AMR][1000 genomes]
rs73082672	1.00[AMR][1000 genomes]
rs73082674	1.00[AMR][1000 genomes]
rs73082690	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898896	chr12:21561645-21695584	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1054220	chr12:21612158-21692103	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1036084	chr12:21631009-21792756	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21652600-21656200	Active TSS	NHLF	lung
2	chr12:21652800-21655800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:21652800-21656000	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr12:21652800-21656000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:21652800-21656000	Active TSS	Right Atrium	heart
6	chr12:21652800-21656400	Active TSS	Psoas Muscle	Psoas
7	chr12:21653000-21655800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:21653000-21656000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:21653000-21656000	Active TSS	Right Ventricle	heart
10	chr12:21653000-21656000	Active TSS	K562	blood
11	chr12:21653000-21656200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:21653000-21656200	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr12:21653200-21655800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:21653200-21655800	Active TSS	Ovary	ovary
15	chr12:21653400-21655800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:21653400-21656000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:21653400-21656000	Active TSS	NHDF-Ad	bronchial
18	chr12:21653600-21655800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:21653600-21655800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:21653600-21655800	Active TSS	Fetal Muscle Trunk	muscle
21	chr12:21653600-21656000	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr12:21653600-21656400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr12:21653800-21655800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:21653800-21655800	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr12:21653800-21655800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:21653800-21655800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:21653800-21655800	Active TSS	Fetal Stomach	stomach
28	chr12:21653800-21655800	Active TSS	A549	lung
29	chr12:21653800-21655800	Active TSS	GM12878-XiMat	blood
30	chr12:21653800-21655800	Active TSS	HSMM	muscle
31	chr12:21653800-21655800	Active TSS	NH-A	brain
32	chr12:21653800-21655800	Active TSS	NHEK	skin
33	chr12:21653800-21656000	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr12:21653800-21656200	Active TSS	HSMMtube	muscle
35	chr12:21653800-21656400	Active TSS	Aorta	Aorta
36	chr12:21654000-21655800	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr12:21654000-21655800	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr12:21654000-21655800	Active TSS	Rectal Smooth Muscle	rectum
39	chr12:21654000-21655800	Active TSS	Hela-S3	cervix
40	chr12:21654000-21655800	Active TSS	HMEC	breast
41	chr12:21654000-21656000	Active TSS	H1 Cell Line	embryonic stem cell
42	chr12:21654000-21656000	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr12:21654000-21656200	Active TSS	Colonic Mucosa	Colon
44	chr12:21654200-21655800	Active TSS	Brain Hippocampus Middle	brain
45	chr12:21654200-21655800	Active TSS	Stomach Smooth Muscle	stomach
46	chr12:21654400-21655800	Active TSS	Pancreas	Pancrea
47	chr12:21654800-21655800	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr12:21655000-21655800	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr12:21655000-21655800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:21655000-21656200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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