Variant report

Variant	rs73415652
Chromosome Location	chr12:122396424-122396425
allele	A/C
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	SIN3AK20	chr12:122395855-122396566	MCF-7	breast:	n/a	n/a
2	GATA3	chr12:122396090-122396618	MCF-7	breast:	n/a	chr12:122396438-122396447 chr12:122396434-122396450
3	GATA3	chr12:122395930-122396545	MCF-7	breast:	n/a	chr12:122396438-122396447 chr12:122396434-122396450
4	GATA3	chr12:122396092-122396641	MCF-7	breast:	n/a	chr12:122396438-122396447 chr12:122396434-122396450

No.	Distal block	Cell Line	Cell type
1	chr12:122370436..122373370-chr12:122395690..122398094,3	K562	blood:
2	chr12:122394365..122397309-chr12:122398081..122400536,2	K562	blood:
3	chr12:122240547..122242267-chr12:122395940..122398933,2	K562	blood:
4	chr12:122395836..122398173-chr12:122399346..122401443,3	MCF-7	breast:

Variant related genes	Relation type
WDR66	TF binding region
ENSG00000139725	Chromatin interaction
ENSG00000158023	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000212694	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11830915	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11832557	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7309804	0.91[AMR][1000 genomes]
rs73415630	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73415646	0.99[AFR][1000 genomes];1.00[AMR][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv1799099	chr12:122382229-122398494	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122363600-122398600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr12:122363600-122408000	Weak transcription	Right Ventricle	heart
3	chr12:122365800-122405000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:122370600-122403200	Weak transcription	Fetal Kidney	kidney
5	chr12:122374000-122402800	Weak transcription	HSMM	muscle
6	chr12:122374000-122405600	Weak transcription	Adipose Nuclei	Adipose
7	chr12:122375400-122401400	Weak transcription	Ovary	ovary
8	chr12:122375400-122402600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:122375800-122415800	Weak transcription	Liver	Liver
10	chr12:122376000-122401600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:122376000-122413000	Weak transcription	Aorta	Aorta
12	chr12:122377400-122406200	Weak transcription	Thymus	Thymus
13	chr12:122380600-122401600	Weak transcription	Pancreas	Pancrea
14	chr12:122380800-122405800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr12:122381000-122400000	Weak transcription	Spleen	Spleen
16	chr12:122381000-122405800	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:122382200-122402200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:122382600-122399600	Weak transcription	K562	blood
19	chr12:122386200-122398600	Weak transcription	Fetal Stomach	stomach
20	chr12:122388200-122396800	Weak transcription	NHDF-Ad	bronchial
21	chr12:122388200-122398600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:122388400-122399800	Weak transcription	NHLF	lung
23	chr12:122388400-122401800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr12:122391400-122410800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:122391600-122402800	Weak transcription	A549	lung
26	chr12:122391600-122405600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:122391800-122410800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:122392000-122397200	Weak transcription	HepG2	liver
29	chr12:122393200-122398600	Strong transcription	NHEK	skin
30	chr12:122393200-122402000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:122393400-122399000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:122394000-122396600	Weak transcription	Osteobl	bone
33	chr12:122394000-122429800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr12:122394200-122402800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:122394200-122407600	Weak transcription	Brain Angular Gyrus	brain
36	chr12:122394200-122411000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:122394200-122411200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:122395200-122397200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr12:122395600-122396600	Enhancers	Fetal Brain Female	brain
40	chr12:122395600-122398000	Enhancers	Brain Germinal Matrix	brain
41	chr12:122395800-122396800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr12:122395800-122396800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr12:122395800-122397000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr12:122395800-122397400	Strong transcription	HMEC	breast
45	chr12:122395800-122397600	Enhancers	H1 Cell Line	embryonic stem cell
46	chr12:122395800-122397600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:122396000-122396600	Genic enhancers	Brain Anterior Caudate	brain
48	chr12:122396000-122397200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr12:122396000-122408000	Weak transcription	Fetal Intestine Small	intestine
50	chr12:122396200-122396600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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