Variant report

Variant	rs73036323
Chromosome Location	chr2:179342448-179342449
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:179342070-179342697	HepG2	liver:	n/a	n/a
2	MXI1	chr2:179341626-179344256	SK-N-SH	brain:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:76970332..76972740-chr2:179341961..179344883,2	MCF-7	breast:
2	chr2:179277322..179281063-chr2:179341771..179345640,5	K562	blood:
3	chr2:179312045..179317660-chr2:179337933..179347437,24	MCF-7	breast:
4	chr2:178976808..178978488-chr2:179342162..179344754,2	MCF-7	breast:
5	chr2:179319205..179322423-chr2:179341743..179345832,4	K562	blood:
6	chr2:179310863..179318324-chr2:179338966..179346608,29	K562	blood:
7	chr2:179341858..179343792-chr2:179500377..179502025,2	K562	blood:
8	chr2:179314444..179318442-chr2:179340876..179346721,19	MCF-7	breast:
9	chr2:179311363..179318324-chr2:179340414..179346232,28	K562	blood:
10	chr2:178127221..178129853-chr2:179341742..179345099,3	K562	blood:
11	chr2:179308416..179311292-chr2:179342166..179344945,2	MCF-7	breast:
12	chr2:179278151..179280958-chr2:179342121..179344961,4	K562	blood:

No data

Variant related genes	Relation type
PLEKHA3	TF binding region
ENSG00000116044	Chromatin interaction
ENSG00000238082	Chromatin interaction
ENSG00000223960	Chromatin interaction
ENSG00000155636	Chromatin interaction
ENSG00000204311	Chromatin interaction
ENSG00000180228	Chromatin interaction
ENSG00000237298	Chromatin interaction
ENSG00000165637	Chromatin interaction
ENSG00000222043	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11893643	1.00[AMR][1000 genomes]
rs56839647	1.00[AMR][1000 genomes]
rs56986537	1.00[AMR][1000 genomes]
rs57496164	0.94[AFR][1000 genomes]
rs59265316	1.00[AMR][1000 genomes]
rs73034347	1.00[AMR][1000 genomes]
rs73034350	1.00[AMR][1000 genomes]
rs73034356	1.00[AMR][1000 genomes]
rs73034366	1.00[AMR][1000 genomes]
rs73034371	1.00[AMR][1000 genomes]
rs73034373	1.00[AMR][1000 genomes]
rs73034375	1.00[AMR][1000 genomes]
rs73034393	1.00[AMR][1000 genomes]
rs73036314	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036316	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036326	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036336	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036341	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834467	chr2:179258140-179430965	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179316800-179342600	Weak transcription	Aorta	Aorta
2	chr2:179316800-179342800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:179317200-179342800	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:179318000-179342800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:179326200-179342600	Weak transcription	Primary T cells from cord blood	blood
6	chr2:179328200-179342600	Weak transcription	Fetal Thymus	thymus
7	chr2:179328200-179342600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:179330800-179342600	Weak transcription	Colonic Mucosa	Colon
9	chr2:179331200-179342800	Weak transcription	Lung	lung
10	chr2:179332800-179342600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:179339000-179342600	Weak transcription	Brain Angular Gyrus	brain
12	chr2:179339000-179342600	Weak transcription	Right Ventricle	heart
13	chr2:179339400-179342800	Weak transcription	Fetal Heart	heart
14	chr2:179339800-179342800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:179339800-179342800	Weak transcription	Left Ventricle	heart
16	chr2:179341200-179342800	Flanking Active TSS	Dnd41	blood
17	chr2:179341200-179346000	Active TSS	Fetal Brain Female	brain
18	chr2:179341400-179343600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:179341400-179344200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:179341600-179342600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:179341600-179344200	Active TSS	Fetal Lung	lung
22	chr2:179341800-179343200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:179341800-179343400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:179341800-179343600	Active TSS	NH-A	brain
25	chr2:179341800-179343600	Active TSS	NHLF	lung
26	chr2:179341800-179344000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:179341800-179344000	Active TSS	Ovary	ovary
28	chr2:179341800-179345000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:179341800-179345600	Active TSS	Brain Germinal Matrix	brain
30	chr2:179341800-179345800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:179342000-179342600	Enhancers	Brain Anterior Caudate	brain
32	chr2:179342000-179342600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:179342000-179342800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr2:179342000-179342800	Flanking Active TSS	HUVEC	blood vessel
35	chr2:179342000-179343400	Active TSS	Stomach Smooth Muscle	stomach
36	chr2:179342000-179343600	Active TSS	Fetal Muscle Leg	muscle
37	chr2:179342000-179344000	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr2:179342000-179344000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:179342000-179346200	Active TSS	Fetal Kidney	kidney
40	chr2:179342000-179346400	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr2:179342000-179346400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:179342000-179346600	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr2:179342200-179342600	Weak transcription	Colon Smooth Muscle	Colon
44	chr2:179342200-179342600	Active TSS	HepG2	liver
45	chr2:179342200-179342800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr2:179342200-179343400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:179342200-179343600	Active TSS	Liver	Liver
48	chr2:179342200-179343800	Active TSS	GM12878-XiMat	blood
49	chr2:179342200-179344000	Active TSS	K562	blood
50	chr2:179342200-179344400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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