Variant report

Variant	rs2442066
Chromosome Location	chr12:32158533-32158534
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	JUN	chr12:32158367-32159074	K562	blood:	n/a	n/a
2	ZNF384	chr12:32158331-32159226	K562	blood:	n/a	n/a
3	SIRT6	chr12:32158383-32158820	K562	blood:	n/a	n/a
4	SMARCA4	chr12:32158406-32158985	K562	blood:	n/a	n/a
5	UBTF	chr12:32158470-32158761	K562	blood:	n/a	n/a
6	GABPA	chr12:32158380-32158777	K562	blood:	n/a	n/a
7	GATA2	chr12:32158368-32158882	K562	blood:	n/a	chr12:32158542-32158551
8	ZMIZ1	chr12:32158396-32158891	K562	blood:	n/a	n/a
9	MAFK	chr12:32158443-32159026	K562	blood:	n/a	n/a
10	MAZ	chr12:32158405-32158883	K562	blood:	n/a	n/a
11	IRF1	chr12:32158377-32158845	K562	blood:	n/a	chr12:32158780-32158796
12	RFX5	chr12:32158495-32158958	K562	blood:	n/a	n/a
13	REST	chr12:32158374-32158763	K562	blood:	n/a	n/a
14	POLR2A	chr12:32158327-32158881	K562	blood:	n/a	n/a
15	BACH1	chr12:32158509-32158692	K562	blood:	n/a	n/a
16	MAX	chr12:32158366-32158792	K562	blood:	n/a	n/a
17	CEBPB	chr12:32158368-32159073	K562	blood:	n/a	n/a
18	CEBPB	chr12:32158386-32158901	K562	blood:	n/a	n/a
19	CEBPD	chr12:32158377-32158978	K562	blood:	n/a	n/a
20	HCFC1	chr12:32158471-32158823	K562	blood:	n/a	n/a
21	REST	chr12:32158425-32158745	K562	blood:	n/a	n/a
22	NFYA	chr12:32158461-32158811	K562	blood:	n/a	n/a
23	ELK1	chr12:32158516-32158695	K562	blood:	n/a	n/a
24	GATA1	chr12:32158396-32158843	K562	blood:	n/a	chr12:32158542-32158551
25	TEAD4	chr12:32158293-32159148	K562	blood:	n/a	n/a
26	MXI1	chr12:32158427-32158819	K562	blood:	n/a	n/a
27	JUN	chr12:32158402-32158986	K562	blood:	n/a	n/a
28	GATA1	chr12:32158432-32158878	PBDEFetal	blood:	n/a	chr12:32158542-32158551
29	JUND	chr12:32158390-32158904	K562	blood:	n/a	n/a
30	RAD21	chr12:32158533-32158765	K562	blood:	n/a	chr12:32158672-32158686 chr12:32158574-32158586
31	GATA2	chr12:32158281-32158961	K562	blood:	n/a	chr12:32158542-32158551
32	MYC	chr12:32158416-32158985	K562	blood:	n/a	n/a
33	MYC	chr12:32158424-32158841	K562	blood:	n/a	n/a
34	SMC3	chr12:32158469-32158773	K562	blood:	n/a	n/a
35	CBX3	chr12:32158375-32158825	K562	blood:	n/a	n/a
36	POLR2A	chr12:32158369-32158805	K562	blood:	n/a	n/a
37	BCL3	chr12:32158395-32158935	K562	blood:	n/a	n/a
38	IRF1	chr12:32158435-32158895	K562	blood:	n/a	chr12:32158780-32158796
39	ZBTB7A	chr12:32158495-32158799	K562	blood:	n/a	n/a
40	FOSL1	chr12:32158448-32158752	K562	blood:	n/a	n/a
41	MAFF	chr12:32158417-32158837	K562	blood:	n/a	n/a
42	ETS1	chr12:32158439-32158746	K562	blood:	n/a	n/a
43	STAT5A	chr12:32158282-32158984	K562	blood:	n/a	n/a
44	ETS1	chr12:32158380-32158740	K562	blood:	n/a	n/a
45	ARID3A	chr12:32158464-32158892	K562	blood:	n/a	n/a
46	ZBTB7A	chr12:32158373-32158829	K562	blood:	n/a	n/a
47	USF1	chr12:32158469-32158799	K562	blood:	n/a	chr12:32158666-32158682
48	TEAD4	chr12:32158303-32159125	K562	blood:	n/a	n/a
49	GATA1	chr12:32158392-32159122	K562	blood:	n/a	chr12:32158542-32158551
50	CEBPD	chr12:32158325-32158975	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000257094	TF binding region

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10771900	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2442064	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2442065	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2460870	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2594028	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2683477	0.90[ASN][1000 genomes]
rs61931417	0.97[ASN][1000 genomes]
rs7299419	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7961746	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv3430326	chr12:32142734-32216569	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	esv3410287	chr12:32142734-32219420	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv3447837	chr12:32157285-32159308	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32137200-32158600	Weak transcription	HUVEC	blood vessel
2	chr12:32151200-32162400	Weak transcription	Fetal Kidney	kidney
3	chr12:32151200-32163400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:32151200-32164400	Weak transcription	Brain Anterior Caudate	brain
5	chr12:32151400-32160000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:32151600-32158600	Weak transcription	Right Ventricle	heart
7	chr12:32152400-32158600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:32152400-32162600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr12:32152800-32158600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:32152800-32162000	Weak transcription	Pancreas	Pancrea
11	chr12:32152800-32165600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:32152800-32165600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:32154000-32163600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:32154000-32165400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:32154200-32161800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:32154200-32161800	Weak transcription	Fetal Stomach	stomach
17	chr12:32154200-32163400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:32154200-32165400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:32154400-32159000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:32154400-32163400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:32154400-32165400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:32154400-32177800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr12:32154400-32178400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr12:32154800-32158600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:32154800-32160000	Weak transcription	Placenta	Placenta
26	chr12:32154800-32160400	Weak transcription	Fetal Thymus	thymus
27	chr12:32154800-32162000	Weak transcription	Left Ventricle	heart
28	chr12:32154800-32163400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:32154800-32163400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:32154800-32163600	Weak transcription	A549	lung
31	chr12:32154800-32165600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:32154800-32167800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:32154800-32178000	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr12:32154800-32179400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:32155000-32165400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:32155800-32173600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:32156000-32163000	Weak transcription	Fetal Intestine Small	intestine
38	chr12:32156000-32163400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:32156200-32164800	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr12:32156200-32177800	Weak transcription	Primary T cells from cord blood	blood
41	chr12:32156200-32179000	Weak transcription	Primary B cells from cord blood	blood
42	chr12:32156600-32168000	Weak transcription	Thymus	Thymus
43	chr12:32158400-32158600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:32158400-32158600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:32158400-32158600	Active TSS	K562	blood
46	chr12:32158400-32159000	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr12:32158400-32159000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:32158400-32159000	Enhancers	Fetal Heart	heart
49	chr12:32158400-32159400	Enhancers	Ovary	ovary
50	chr12:32158400-32160200	Enhancers	Primary hematopoietic stem cells	blood

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