Variant report

Variant	rs34619605
Chromosome Location	chr12:42471021-42471022
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	RCOR1	chr12:42470571-42471165	K562	blood:	n/a	n/a
2	REST	chr12:42470891-42471077	K562	blood:	n/a	n/a
3	GATA2	chr12:42470709-42471217	K562	blood:	n/a	chr12:42470950-42470960 chr12:42470952-42470959 chr12:42470952-42470959 chr12:42470952-42470959
4	POLR2A	chr12:42470775-42471159	K562	blood:	n/a	n/a
5	CCNT2	chr12:42470838-42471213	K562	blood:	n/a	n/a
6	PML	chr12:42470794-42471187	K562	blood:	n/a	n/a
7	STAT5A	chr12:42470772-42471144	K562	blood:	n/a	chr12:42470774-42470781
8	TEAD4	chr12:42470709-42471249	K562	blood:	n/a	n/a
9	GATA1	chr12:42470834-42471162	PBDEFetal	blood:	n/a	chr12:42470950-42470960 chr12:42470952-42470959 chr12:42470952-42470959 chr12:42470952-42470959
10	STAT5A	chr12:42470719-42471232	K562	blood:	n/a	chr12:42470774-42470781
11	GABPA	chr12:42470821-42471123	K562	blood:	n/a	n/a
12	JUND	chr12:42470731-42471159	K562	blood:	n/a	n/a
13	TRIM28	chr12:42470721-42471222	K562	blood:	n/a	n/a
14	POLR2A	chr12:42470857-42471065	K562	blood:	n/a	n/a
15	POLR2A	chr12:42470921-42471036	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr12:42470867-42471107	K562	blood:	n/a	n/a
17	ZNF274	chr12:42470883-42471256	K562	blood:	n/a	n/a
18	CEBPD	chr12:42470722-42471288	K562	blood:	n/a	n/a
19	BHLHE40	chr12:42470788-42471125	K562	blood:	n/a	n/a
20	ZNF143	chr12:42470796-42471098	K562	blood:	n/a	n/a
21	TEAD4	chr12:42470710-42471260	K562	blood:	n/a	n/a
22	EP300	chr12:42470713-42471199	K562	blood:	n/a	chr12:42470775-42470784
23	ZMIZ1	chr12:42470869-42471174	K562	blood:	n/a	n/a
24	TBL1XR1	chr12:42470513-42471144	K562	blood:	n/a	n/a
25	NR2F2	chr12:42470808-42471163	K562	blood:	n/a	n/a
26	TAL1	chr12:42470519-42471232	K562	blood:	n/a	chr12:42470601-42470609
27	REST	chr12:42470923-42471044	K562	blood:	n/a	n/a
28	EP300	chr12:42470837-42471148	K562	blood:	n/a	n/a
29	CEBPD	chr12:42470726-42471199	K562	blood:	n/a	n/a
30	MAX	chr12:42470846-42471047	K562	blood:	n/a	n/a
31	PML	chr12:42470712-42471248	K562	blood:	n/a	n/a
32	GATA2	chr12:42470814-42471160	K562	blood:	n/a	chr12:42470950-42470960 chr12:42470952-42470959 chr12:42470952-42470959 chr12:42470952-42470959
33	POLR2A	chr12:42470798-42471161	K562	blood:	n/a	n/a
34	GATA1	chr12:42470268-42471378	K562	blood:	n/a	chr12:42470950-42470960 chr12:42470589-42470598 chr12:42470952-42470959 chr12:42470952-42470959 chr12:42470952-42470959 chr12:42470620-42470641
35	GATA2	chr12:42470756-42471176	K562	blood:	n/a	chr12:42470950-42470960 chr12:42470952-42470959 chr12:42470952-42470959 chr12:42470952-42470959
36	POLR2A	chr12:42470438-42471258	Hela-S3	cervix:	n/a	n/a
37	GATA1	chr12:42470224-42471561	PBDE	blood:	n/a	chr12:42470950-42470960 chr12:42470589-42470598 chr12:42470952-42470959 chr12:42470952-42470959 chr12:42470952-42470959 chr12:42470620-42470641

Variant related genes	Relation type
ENSG00000222884	TF binding region

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1074428	0.87[EUR][1000 genomes]
rs11181284	0.93[ASN][1000 genomes]
rs11610892	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs11611399	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613623	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12313210	0.93[ASN][1000 genomes]
rs12812537	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12812574	0.98[EUR][1000 genomes]
rs12813181	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12819127	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs12819341	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12823639	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12824122	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1492364	0.94[EUR][1000 genomes]
rs17224170	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17224177	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1732340	0.88[EUR][1000 genomes]
rs1872444	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1920699	0.93[ASN][1000 genomes]
rs34064806	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34329231	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs34331898	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34669984	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34827386	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs34842994	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs35644702	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35682620	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35986152	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3990974	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4264206	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4332578	1.00[EUR][1000 genomes]
rs56142563	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58891308	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61279714	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs67788023	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs68185827	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7960537	0.93[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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1047830	chr12:42466192-42497603	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42463800-42474600	Weak transcription	Left Ventricle	heart
2	chr12:42464600-42484000	Weak transcription	HSMM	muscle
3	chr12:42467400-42471200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr12:42468400-42490200	Weak transcription	Spleen	Spleen
5	chr12:42469400-42491800	Weak transcription	Ovary	ovary
6	chr12:42470200-42471400	Enhancers	K562	blood
7	chr12:42470400-42479200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:42470400-42484000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:42470600-42475000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr12:42470600-42476000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:42470600-42484000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:42470600-42491400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr12:42470800-42471200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:42470800-42480000	Weak transcription	A549	lung
15	chr12:42470800-42485600	Weak transcription	Aorta	Aorta
16	chr12:42471000-42504200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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