Variant report

Variant	rs61954381
Chromosome Location	chr12:122764592-122764593
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	GTF2B	chr12:122764332-122764615	K562	blood:	n/a	n/a
2	POLR2A	chr12:122764287-122764616	K562	blood:	n/a	n/a
3	HEY1	chr12:122764327-122764689	K562	blood:	n/a	n/a
4	POLR2A	chr12:122764257-122764661	K562	blood:	n/a	n/a
5	MAX	chr12:122764261-122764699	K562	blood:	n/a	n/a
6	IRF1	chr12:122764329-122764651	K562	blood:	n/a	chr12:122764504-122764524 chr12:122764463-122764477 chr12:122764508-122764522 chr12:122764506-122764520 chr12:122764512-122764522
7	TEAD4	chr12:122764143-122764621	K562	blood:	n/a	n/a
8	JUND	chr12:122764287-122764638	K562	blood:	n/a	n/a
9	CTCF	chr12:122764480-122764630	HCM	heart:	n/a	n/a
10	POLR2A	chr12:122764177-122764827	K562	blood:	n/a	n/a
11	POLR2A	chr12:122764250-122764727	K562	blood:	n/a	n/a
12	MAFK	chr12:122764265-122764618	IMR90	lung:	n/a	chr12:122764442-122764453 chr12:122764440-122764449 chr12:122764439-122764449
13	MAFF	chr12:122763976-122764645	K562	blood:	n/a	n/a
14	YY1	chr12:122764282-122764697	K562	blood:	n/a	n/a
15	TEAD4	chr12:122764224-122764692	K562	blood:	n/a	n/a
16	MAX	chr12:122764287-122764597	K562	blood:	n/a	n/a
17	ARID3A	chr12:122764222-122764634	K562	blood:	n/a	n/a
18	TBP	chr12:122764250-122764683	K562	blood:	n/a	n/a
19	POLR2A	chr12:122764310-122764666	K562	blood:	n/a	n/a
20	TAF1	chr12:122764349-122764615	K562	blood:	n/a	n/a
21	MAZ	chr12:122764276-122764658	K562	blood:	n/a	n/a
22	GATA1	chr12:122764164-122764639	PBDE	blood:	n/a	chr12:122764453-122764462
23	MYC	chr12:122764224-122764665	K562	blood:	n/a	n/a
24	UBTF	chr12:122764332-122764609	K562	blood:	n/a	n/a
25	IRF1	chr12:122763692-122764695	K562	blood:	n/a	chr12:122764504-122764524 chr12:122764463-122764477 chr12:122764508-122764522 chr12:122764506-122764520 chr12:122764512-122764522
26	IRF1	chr12:122764045-122764657	K562	blood:	n/a	chr12:122764504-122764524 chr12:122764463-122764477 chr12:122764508-122764522 chr12:122764506-122764520 chr12:122764512-122764522
27	CBX3	chr12:122764230-122764750	K562	blood:	n/a	n/a
28	MAFK	chr12:122764231-122764643	K562	blood:	n/a	chr12:122764442-122764453 chr12:122764440-122764449 chr12:122764439-122764449
29	ZNF384	chr12:122764385-122764612	K562	blood:	n/a	n/a
30	EP300	chr12:122764275-122764641	K562	blood:	n/a	chr12:122764526-122764540
31	HDAC2	chr12:122764309-122764632	K562	blood:	n/a	n/a
32	MAX	chr12:122764356-122764601	K562	blood:	n/a	n/a
33	REST	chr12:122764327-122764626	K562	blood:	n/a	n/a
34	BACH1	chr12:122764026-122764632	K562	blood:	n/a	n/a
35	TBL1XR1	chr12:122764295-122764614	K562	blood:	n/a	n/a
36	MYC	chr12:122764172-122764637	K562	blood:	n/a	n/a
37	CEBPD	chr12:122764295-122764749	K562	blood:	n/a	n/a
38	TAF1	chr12:122764271-122764599	K562	blood:	n/a	n/a
39	EGR1	chr12:122764299-122764601	K562	blood:	n/a	n/a
40	RCOR1	chr12:122764305-122764632	K562	blood:	n/a	n/a
41	SPI1	chr12:122764382-122764658	K562	blood:	n/a	n/a
42	BHLHE40	chr12:122764346-122764624	K562	blood:	n/a	n/a
43	ZMIZ1	chr12:122764086-122764613	K562	blood:	n/a	n/a
44	EP300	chr12:122764327-122764602	GM12878	blood:	n/a	chr12:122764526-122764540
45	HEY1	chr12:122764337-122764684	K562	blood:	n/a	n/a
46	BACH1	chr12:122764225-122764611	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122759362..122761887-chr12:122763951..122766011,2	MCF-7	breast:
2	chr12:122748134..122753515-chr12:122760156..122766963,8	K562	blood:

Variant related genes	Relation type
CLIP1	TF binding region
ENSG00000256861	Chromatin interaction
ENSG00000139719	Chromatin interaction
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11057290	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11061368	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11836373	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12580043	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882581	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2089887	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35422129	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58134429	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60995900	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954363	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61954365	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954366	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954367	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954368	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61954369	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954370	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954371	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61954374	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954376	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954377	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954378	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61954382	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954383	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954393	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954394	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954395	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61954397	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61955587	0.82[AMR][1000 genomes]
rs61955588	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61955589	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7132789	0.91[EUR][1000 genomes]
rs7303975	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7953290	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964780	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7968764	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7979955	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs907485	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122751600-122803400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:122752000-122766400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:122752000-122780000	Weak transcription	Fetal Kidney	kidney
4	chr12:122752000-122800600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:122752000-122802600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:122752200-122766800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:122752400-122810400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:122752600-122765200	Weak transcription	Hela-S3	cervix
9	chr12:122754600-122822400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:122755400-122764800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:122755400-122765800	Strong transcription	Adipose Nuclei	Adipose
12	chr12:122755800-122768200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:122756000-122766200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:122756200-122766800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:122756600-122766000	Strong transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:122757200-122766200	Strong transcription	Fetal Muscle Trunk	muscle
17	chr12:122757600-122780200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:122759000-122766600	Weak transcription	HMEC	breast
19	chr12:122759000-122782200	Weak transcription	Right Ventricle	heart
20	chr12:122760000-122765200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:122760200-122790400	Strong transcription	Placenta	Placenta
22	chr12:122760400-122766000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:122760400-122766200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:122760400-122774800	Strong transcription	Liver	Liver
25	chr12:122760800-122765800	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:122760800-122765800	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:122760800-122766000	Strong transcription	Primary T cells from cord blood	blood
28	chr12:122760800-122766000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:122761000-122766200	Strong transcription	Brain Germinal Matrix	brain
30	chr12:122761400-122765800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:122761600-122766000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:122761600-122766800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr12:122761800-122765400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:122761800-122766400	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr12:122762000-122765800	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr12:122762200-122765600	Strong transcription	A549	lung
37	chr12:122762200-122765800	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr12:122762400-122766000	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr12:122762600-122765400	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr12:122762600-122765600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr12:122762600-122766200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:122762800-122765600	Strong transcription	NHEK	skin
43	chr12:122762800-122766600	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr12:122762800-122766800	Strong transcription	Lung	lung
45	chr12:122763400-122765000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:122763400-122765400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr12:122763600-122765000	Weak transcription	Esophagus	oesophagus
48	chr12:122763600-122765000	Weak transcription	Fetal Muscle Leg	muscle
49	chr12:122763600-122765000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr12:122763600-122765000	Weak transcription	HSMM	muscle

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