Variant report

Variant	rs61921902
Chromosome Location	chr12:59310140-59310141
allele	C/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	CEBPB	chr12:59309969-59310181	K562	blood:	n/a	chr12:59310085-59310096
2	CEBPB	chr12:59309909-59310275	IMR90	lung:	n/a	chr12:59310085-59310096
3	CEBPB	chr12:59309981-59310207	A549	lung:	n/a	chr12:59310085-59310096
4	POLR2A	chr12:59309378-59314838	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr12:59309911-59310257	HepG2	liver:	n/a	chr12:59310085-59310096

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:59306615..59312160-chr12:59312563..59315284,9	MCF-7	breast:
2	chr12:59300516..59303019-chr12:59309552..59311828,2	MCF-7	breast:

Variant related genes	Relation type
LRIG3	TF binding region
ENSG00000257443	TF binding region
ENSG00000257443	Chromatin interaction
ENSG00000139263	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11172814	0.86[EUR][1000 genomes]
rs17121655	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17121690	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17121692	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17121696	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59316221	0.85[ASN][1000 genomes]
rs61921896	0.86[EUR][1000 genomes]
rs748822	0.86[EUR][1000 genomes];0.83[ASN][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	esv2758311	chr12:59022729-59323045	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS 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	12 gene(s)	inside rSNPs	diseases
2	esv2759902	chr12:59022729-59323045	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59266000-59311000	Weak transcription	Fetal Thymus	thymus
2	chr12:59279000-59310800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:59290600-59311000	Weak transcription	Right Ventricle	heart
4	chr12:59292400-59310600	Weak transcription	Small Intestine	intestine
5	chr12:59302000-59313000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:59303200-59313400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:59303800-59311800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:59303800-59312400	Weak transcription	Gastric	stomach
9	chr12:59303800-59313000	Weak transcription	Lung	lung
10	chr12:59304800-59312800	Weak transcription	Placenta	Placenta
11	chr12:59305200-59310600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:59306600-59313000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:59306800-59310400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:59307400-59310800	Weak transcription	Hela-S3	cervix
15	chr12:59307600-59311200	Flanking Active TSS	HUVEC	blood vessel
16	chr12:59307800-59310600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:59307800-59310800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:59308000-59310600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:59308000-59310800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:59308000-59311000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:59308200-59311200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:59308400-59310800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr12:59308600-59311800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr12:59308600-59314600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:59308800-59310800	Active TSS	Fetal Brain Female	brain
26	chr12:59308800-59314600	Active TSS	Stomach Smooth Muscle	stomach
27	chr12:59309000-59310200	Active TSS	NHDF-Ad	bronchial
28	chr12:59309000-59310600	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr12:59309000-59311800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr12:59309000-59312000	Enhancers	Brain Substantia Nigra	brain
31	chr12:59309000-59312200	Flanking Active TSS	Osteobl	bone
32	chr12:59309000-59314400	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr12:59309000-59314600	Active TSS	HMEC	breast
34	chr12:59309200-59310600	Enhancers	HSMMtube	muscle
35	chr12:59309200-59311000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:59309200-59312200	Enhancers	Fetal Heart	heart
37	chr12:59309200-59314600	Active TSS	Duodenum Mucosa	Duodenum
38	chr12:59309200-59314600	Active TSS	Fetal Intestine Small	intestine
39	chr12:59309200-59314600	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr12:59309200-59314800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:59309200-59314800	Active TSS	Ovary	ovary
42	chr12:59309200-59315200	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr12:59309400-59310600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:59309400-59311800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr12:59309400-59315000	Active TSS	Fetal Muscle Trunk	muscle
46	chr12:59309600-59310200	Flanking Active TSS	Fetal Kidney	kidney
47	chr12:59309600-59310200	Active TSS	GM12878-XiMat	blood
48	chr12:59309600-59310400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr12:59309600-59310400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:59309600-59310600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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