Variant report

Variant	rs73308073
Chromosome Location	chr12:51316963-51316964
allele	A/G
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	RAD21	chr12:51316592-51317043	SK-N-SH_RA	brain:	n/a	n/a
2	PBX3	chr12:51316607-51317238	SK-N-SH	brain:	n/a	n/a
3	EP300	chr12:51316559-51317112	SK-N-SH	brain:	n/a	chr12:51316807-51316821
4	MYC	chr12:51316844-51316988	MCF10A-Er-Src	breast:	n/a	n/a
5	JUND	chr12:51316580-51317169	SK-N-SH	brain:	n/a	n/a
6	PBX3	chr12:51316596-51317160	SK-N-SH	brain:	n/a	n/a
7	YY1	chr12:51316691-51316986	SK-N-SH_RA	brain:	n/a	n/a
8	TCF12	chr12:51316461-51317182	SK-N-SH	brain:	n/a	n/a
9	RAD21	chr12:51316596-51316994	SK-N-SH_RA	brain:	n/a	n/a
10	GATA2	chr12:51316621-51317082	SH-SY5Y	brain:	n/a	chr12:51316815-51316825
11	EP300	chr12:51316591-51317048	SK-N-SH_RA	brain:	n/a	chr12:51316807-51316821
12	POLR2A	chr12:51316609-51317040	SK-N-SH	brain:	n/a	n/a
13	EP300	chr12:51315953-51317326	SK-N-SH	brain:	n/a	chr12:51316390-51316404 chr12:51316395-51316409 chr12:51316446-51316455 chr12:51316807-51316821
14	NFIC	chr12:51316570-51317190	SK-N-SH	brain:	n/a	n/a
15	GATA3	chr12:51316647-51317160	SH-SY5Y	brain:	n/a	chr12:51316815-51316825
16	EP300	chr12:51316604-51317087	SK-N-SH_RA	brain:	n/a	chr12:51316807-51316821
17	CEBPB	chr12:51316706-51317018	IMR90	lung:	n/a	n/a
18	GATA3	chr12:51316610-51317198	SK-N-SH	brain:	n/a	chr12:51316815-51316825
19	FOS	chr12:51316869-51316967	MCF10A-Er-Src	breast:	n/a	n/a
20	CEBPB	chr12:51316759-51317027	H1-hESC	embryonic stem cell:	n/a	n/a
21	GATA3	chr12:51316545-51317244	SK-N-SH	brain:	n/a	chr12:51316815-51316825
22	TCF12	chr12:51316475-51317243	SK-N-SH	brain:	n/a	n/a
23	ZNF384	chr12:51316729-51319175	K562	blood:	n/a	n/a
24	TEAD4	chr12:51316620-51317010	SK-N-SH	brain:	n/a	n/a
25	JUND	chr12:51316568-51317061	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr12:51316743-51316975	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:51316948..51319607-chr12:51419309..51421732,3	K562	blood:
2	chr12:51156536..51158196-chr12:51316559..51318763,2	K562	blood:
3	chr12:51316948..51319607-chr12:51419309..51421732,2	K562	blood:
4	chr12:51155985..51158147-chr12:51315840..51318391,2	MCF-7	breast:

Variant related genes	Relation type
METTL7A	TF binding region
ENSG00000110911	Chromatin interaction
ENSG00000123268	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11169614	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11835513	1.00[AMR][1000 genomes]
rs12300872	0.92[AFR][1000 genomes]
rs17124979	1.00[AMR][1000 genomes]
rs17125085	1.00[AMR][1000 genomes]
rs17125212	1.00[AMR][1000 genomes]
rs17125227	1.00[AMR][1000 genomes]
rs17125245	1.00[AMR][1000 genomes]
rs56809906	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56840343	1.00[AMR][1000 genomes]
rs56883422	1.00[AMR][1000 genomes]
rs56979742	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58343549	1.00[AMR][1000 genomes]
rs58493263	1.00[AMR][1000 genomes]
rs60089061	1.00[AMR][1000 genomes]
rs60610335	1.00[AMR][1000 genomes]
rs60720958	1.00[AMR][1000 genomes]
rs61550892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7137990	1.00[AMR][1000 genomes]
rs7303962	1.00[AMR][1000 genomes]
rs7309789	1.00[AMR][1000 genomes]
rs7312269	1.00[AMR][1000 genomes]
rs73296205	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297927	1.00[AMR][1000 genomes]
rs73297940	1.00[AMR][1000 genomes]
rs73297966	1.00[AMR][1000 genomes]
rs73298000	1.00[AMR][1000 genomes]
rs73300041	1.00[AMR][1000 genomes]
rs73308091	1.00[AMR][1000 genomes]
rs73308094	1.00[AMR][1000 genomes]
rs73308096	1.00[AMR][1000 genomes]
rs73310009	1.00[AMR][1000 genomes]
rs73310019	1.00[AMR][1000 genomes]
rs73310024	1.00[AMR][1000 genomes]
rs73311230	1.00[AMR][1000 genomes]
rs73311252	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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51311800-51318000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:51312800-51317400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:51313600-51318800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:51313800-51317400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:51315000-51317600	Enhancers	Brain Cingulate Gyrus	brain
6	chr12:51315400-51317600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr12:51315600-51317400	Enhancers	Rectal Smooth Muscle	rectum
8	chr12:51315600-51317600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr12:51315600-51317600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:51315800-51317000	Enhancers	Primary B cells from cord blood	blood
11	chr12:51315800-51317000	Enhancers	Liver	Liver
12	chr12:51315800-51317200	Enhancers	Primary B cells from peripheral blood	blood
13	chr12:51315800-51317400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr12:51315800-51317600	Enhancers	Primary hematopoietic stem cells	blood
15	chr12:51315800-51317600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:51315800-51317600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:51316000-51317000	Enhancers	Psoas Muscle	Psoas
18	chr12:51316000-51317200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr12:51316000-51317400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:51316000-51317400	Enhancers	Brain Germinal Matrix	brain
21	chr12:51316000-51317400	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr12:51316000-51317600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr12:51316000-51317600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr12:51316000-51317600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:51316000-51317600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr12:51316000-51317600	Enhancers	Brain Substantia Nigra	brain
27	chr12:51316000-51317600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr12:51316000-51317800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr12:51316000-51317800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:51316000-51317800	Enhancers	Fetal Muscle Leg	muscle
31	chr12:51316000-51318000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:51316000-51318000	Enhancers	Brain Angular Gyrus	brain
33	chr12:51316000-51318000	Enhancers	Fetal Kidney	kidney
34	chr12:51316000-51318000	Enhancers	Stomach Mucosa	stomach
35	chr12:51316000-51318800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:51316200-51317000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:51316200-51317200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr12:51316200-51317400	Enhancers	Colon Smooth Muscle	Colon
39	chr12:51316200-51317400	Enhancers	GM12878-XiMat	blood
40	chr12:51316200-51317400	Enhancers	NHDF-Ad	bronchial
41	chr12:51316200-51317600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:51316200-51317600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr12:51316200-51317600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr12:51316200-51317600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:51316200-51317600	Enhancers	Duodenum Mucosa	Duodenum
46	chr12:51316200-51317600	Enhancers	Fetal Lung	lung
47	chr12:51316200-51317600	Weak transcription	Left Ventricle	heart
48	chr12:51316200-51317600	Enhancers	HepG2	liver
49	chr12:51316200-51317800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:51316200-51317800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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