Variant report

Variant	rs4964435
Chromosome Location	chr12:104391473-104391474
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	MYC	chr12:104391127-104391851	K562	blood:	n/a	n/a
2	CCNT2	chr12:104391176-104391540	K562	blood:	n/a	chr12:104391453-104391473
3	ATF1	chr12:104391054-104391823	K562	blood:	n/a	n/a
4	ARID3A	chr12:104391317-104391573	K562	blood:	n/a	n/a
5	KAP1	chr12:104391056-104391702	U2OS	brain:	n/a	n/a
6	MAZ	chr12:104391458-104391538	K562	blood:	n/a	n/a
7	JUND	chr12:104391061-104391780	K562	blood:	n/a	chr12:104391104-104391112
8	RCOR1	chr12:104391099-104391595	K562	blood:	n/a	n/a
9	UBTF	chr12:104391297-104391621	K562	blood:	n/a	n/a
10	UBTF	chr12:104391273-104391680	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104391248..104393100-chr12:104457489..104459816,2	MCF-7	breast:

Variant related genes	Relation type
GLT8D2	TF binding region
ENSG00000120820	Chromatin interaction
ENSG00000111727	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10861152	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs17034943	0.90[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2723875	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs3751209	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs4135092	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs4135122	0.94[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	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104362000-104392800	Weak transcription	Fetal Brain Male	brain
2	chr12:104377800-104400200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:104380800-104395600	Weak transcription	Aorta	Aorta
4	chr12:104380800-104400200	Weak transcription	NHLF	lung
5	chr12:104381000-104400200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:104381600-104392800	Weak transcription	Left Ventricle	heart
7	chr12:104385000-104400200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:104385400-104400200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:104385600-104404000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:104385800-104400200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:104387000-104400200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:104387200-104404600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:104388800-104400200	Weak transcription	HSMM	muscle
14	chr12:104390400-104391600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:104390400-104393000	Enhancers	Fetal Muscle Trunk	muscle
16	chr12:104390600-104391600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr12:104390800-104391800	Enhancers	Fetal Intestine Small	intestine
18	chr12:104390800-104392000	Enhancers	Fetal Lung	lung
19	chr12:104391000-104391600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr12:104391000-104391800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:104391000-104391800	Bivalent Enhancer	HepG2	liver
22	chr12:104391200-104391600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:104391200-104391600	Active TSS	Right Ventricle	heart
24	chr12:104391200-104391600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr12:104391200-104391800	Flanking Active TSS	K562	blood
26	chr12:104391200-104393000	Weak transcription	HSMMtube	muscle
27	chr12:104391200-104406200	Weak transcription	Colon Smooth Muscle	Colon
28	chr12:104391400-104391600	Enhancers	Fetal Heart	heart
29	chr12:104391400-104391600	Enhancers	Ovary	ovary
30	chr12:104391400-104391600	Enhancers	Psoas Muscle	Psoas
31	chr12:104391400-104391600	Flanking Active TSS	Right Atrium	heart
32	chr12:104391400-104393200	Enhancers	Fetal Stomach	stomach
33	chr12:104391400-104393400	Enhancers	Fetal Muscle Leg	muscle

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