Variant report

Variant	rs74087504
Chromosome Location	chr12:31882582-31882583
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	SIN3AK20	chr12:31881316-31882662	MCF-7	breast:	n/a	n/a
2	TCF7L2	chr12:31881608-31882673	PANC-1	pancreas:	n/a	n/a
3	BCLAF1	chr12:31881213-31882608	GM12878	blood:	n/a	chr12:31882122-31882131 chr12:31882287-31882300 chr12:31881867-31881876 chr12:31882279-31882292
4	JUND	chr12:31881875-31882668	H1-hESC	embryonic stem cell:	n/a	chr12:31881880-31881889 chr12:31882043-31882052
5	CREB1	chr12:31881321-31882680	GM12878	blood:	n/a	chr12:31882041-31882054
6	REST	chr12:31880987-31882899	H1-neurons	neurons:	n/a	chr12:31881881-31881894 chr12:31882831-31882849
7	ELK1	chr12:31881886-31882763	K562	blood:	n/a	n/a
8	E2F6	chr12:31881815-31882751	H1-hESC	embryonic stem cell:	n/a	chr12:31882044-31882053 chr12:31882042-31882051
9	JUN	chr12:31881255-31883227	K562	blood:	n/a	chr12:31881799-31881808 chr12:31882039-31882052 chr12:31881880-31881889 chr12:31881800-31881809 chr12:31882043-31882052
10	TAF1	chr12:31881809-31882668	A549	lung:	n/a	n/a
11	BCLAF1	chr12:31882035-31884018	K562	blood:	n/a	chr12:31882122-31882131 chr12:31882287-31882300 chr12:31882279-31882292
12	CEBPB	chr12:31882515-31882670	H1-hESC	embryonic stem cell:	n/a	n/a
13	TBP	chr12:31881244-31882665	GM12878	blood:	n/a	n/a
14	E2F6	chr12:31881226-31882986	A549	lung:	n/a	chr12:31882044-31882053 chr12:31882042-31882051
15	MAX	chr12:31881266-31882656	HepG2	liver:	n/a	n/a
16	POLR2A	chr12:31881294-31882605	H1-neurons	neurons:	n/a	n/a
17	MAFK	chr12:31881310-31883016	K562	blood:	n/a	n/a
18	POLR2A	chr12:31881140-31882671	GM12892	blood:	n/a	n/a
19	MYC	chr12:31880923-31883371	K562	blood:	n/a	n/a
20	MYC	chr12:31880808-31883836	K562	blood:	n/a	n/a
21	HEY1	chr12:31881302-31882585	K562	blood:	n/a	chr12:31882042-31882051 chr12:31882044-31882053 chr12:31881861-31881876
22	POLR2A	chr12:31880629-31885316	K562	blood:	n/a	n/a
23	FOXA1	chr12:31881782-31882612	HepG2	liver:	n/a	n/a
24	MAX	chr12:31881122-31882688	SK-N-SH	brain:	n/a	n/a
25	ZNF263	chr12:31881464-31882986	HEK293-T-REx	kidney:	n/a	chr12:31881822-31881831
26	HCFC1	chr12:31881155-31882792	Hela-S3	cervix:	n/a	n/a
27	JUN	chr12:31880990-31883486	K562	blood:	n/a	chr12:31881799-31881808 chr12:31882039-31882052 chr12:31881880-31881889 chr12:31881800-31881809 chr12:31882043-31882052
28	YY1	chr12:31881365-31882619	GM12878	blood:	n/a	chr12:31882274-31882288 chr12:31881799-31881808
29	POLR2A	chr12:31880835-31885183	K562	blood:	n/a	n/a
30	STAT5A	chr12:31881869-31882888	GM12878	blood:	n/a	n/a
31	SIN3AK20	chr12:31881656-31882616	MCF-7	breast:	n/a	n/a
32	TCF12	chr12:31881831-31882601	A549	lung:	n/a	n/a
33	MAZ	chr12:31881044-31882668	IMR90	lung:	n/a	n/a
34	BCL3	chr12:31881816-31882635	A549	lung:	n/a	chr12:31882122-31882131 chr12:31882287-31882300 chr12:31881867-31881876 chr12:31882279-31882292
35	CHD2	chr12:31881354-31883175	K562	blood:	n/a	chr12:31881817-31881827
36	POLR2A	chr12:31881301-31883845	HUVEC	blood vessel:	n/a	n/a
37	WRNIP1	chr12:31881366-31883032	GM12878	blood:	n/a	n/a
38	BCLAF1	chr12:31881482-31882611	GM12878	blood:	n/a	chr12:31882122-31882131 chr12:31882287-31882300 chr12:31881867-31881876 chr12:31882279-31882292
39	POLR2A	chr12:31880977-31884148	K562	blood:	n/a	n/a
40	POLR2A	chr12:31880713-31884421	K562	blood:	n/a	n/a
41	RAD21	chr12:31881481-31882582	IMR90	lung:	n/a	n/a
42	GTF2F1	chr12:31881446-31882692	K562	blood:	n/a	n/a
43	POLR2A	chr12:31881015-31882829	GM12891	blood:	n/a	n/a
44	POLR2A	chr12:31880866-31883290	GM12878	blood:	n/a	n/a
45	MAX	chr12:31881261-31882658	A549	lung:	n/a	n/a
46	IRF1	chr12:31880954-31883625	K562	blood:	n/a	chr12:31881880-31881894 chr12:31882070-31882084 chr12:31881815-31881829
47	MAZ	chr12:31880964-31883087	K562	blood:	n/a	n/a
48	PML	chr12:31881891-31883381	K562	blood:	n/a	n/a
49	POLR2A	chr12:31880828-31887458	K562	blood:	n/a	n/a
50	POLR2A	chr12:31881475-31882965	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:31882281..31884282-chr12:32455901..32458701,2	K562	blood:
2	chr12:31882430..31883133-chr8:134584326..134584942,2	Hela-S3	cervix:
3	chr12:31880642..31885296-chr12:32110658..32113618,5	K562	blood:
4	chr12:31881243..31883910-chr12:32111522..32113326,3	MCF-7	breast:
5	chr12:31882162..31882742-chr8:125551065..125551799,2	Hela-S3	cervix:
6	chr12:31880708..31883036-chr12:32258362..32261321,3	K562	blood:
7	chr12:31880350..31888706-chr12:31898122..31903847,15	K562	blood:
8	chr12:31880235..31884620-chr12:31906466..31910642,5	K562	blood:
9	chr12:31477256..31480149-chr12:31881924..31883474,2	K562	blood:
10	chr12:31882068..31882792-chr14:75593054..75593701,2	Hela-S3	cervix:
11	chr12:31477256..31479632-chr12:31880019..31883424,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-METTL20-8	chr12:31882249-31884462	NONHSAT027572

Variant related genes	Relation type
AMN1	TF binding region
ENSG00000223722	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000257530	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000256843	Chromatin interaction
ENSG00000151746	Chromatin interaction
ENSG00000139146	Chromatin interaction
ENSG00000119638	Chromatin interaction
ENSG00000174718	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11836705	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11836727	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11836739	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28414007	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55654071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57003468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57914624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60077276	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60314175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60342738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60685674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60923381	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085202	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087505	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087511	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087517	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer 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
4	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv898966	chr12:31810126-31944985	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv898967	chr12:31858031-31899475	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv2422415	chr12:31863360-31930722	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv558101	chr12:31876666-32006563	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
15	nsv1050448	chr12:31877289-31927006	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31880600-31882800	Active TSS	K562	blood
2	chr12:31880800-31882600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:31880800-31882600	Active TSS	Brain Anterior Caudate	brain
4	chr12:31880800-31882800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:31880800-31883000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr12:31881000-31882600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:31881000-31882600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr12:31881000-31882600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:31881000-31882600	Active TSS	Brain Angular Gyrus	brain
10	chr12:31881000-31882600	Active TSS	Brain Cingulate Gyrus	brain
11	chr12:31881000-31882600	Active TSS	Fetal Brain Female	brain
12	chr12:31881000-31882600	Active TSS	Fetal Intestine Large	intestine
13	chr12:31881000-31882600	Active TSS	Fetal Intestine Small	intestine
14	chr12:31881000-31882800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:31881000-31882800	Active TSS	Colonic Mucosa	Colon
16	chr12:31881000-31882800	Active TSS	Right Ventricle	heart
17	chr12:31881000-31883000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:31881000-31883000	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr12:31881000-31883000	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr12:31881000-31883000	Active TSS	Psoas Muscle	Psoas
21	chr12:31881000-31883200	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr12:31881000-31883200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:31881000-31883200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:31881200-31882600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:31881200-31882600	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr12:31881200-31882600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr12:31881200-31882600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:31881200-31882600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:31881200-31882600	Active TSS	Brain Substantia Nigra	brain
30	chr12:31881200-31882600	Active TSS	Colon Smooth Muscle	Colon
31	chr12:31881200-31882600	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr12:31881200-31882600	Active TSS	Placenta Amnion	Placenta Amnion
33	chr12:31881200-31882600	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr12:31881200-31882600	Active TSS	Thymus	Thymus
35	chr12:31881200-31882800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:31881200-31882800	Active TSS	Left Ventricle	heart
37	chr12:31881200-31882800	Active TSS	Ovary	ovary
38	chr12:31881200-31883000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:31881200-31883000	Active TSS	Aorta	Aorta
40	chr12:31881200-31883000	Active TSS	HSMM	muscle
41	chr12:31881200-31883200	Active TSS	H9 Cell Line	embryonic stem cell
42	chr12:31881200-31883200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:31881200-31883200	Active TSS	HSMMtube	muscle
44	chr12:31881400-31882600	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr12:31881400-31882600	Active TSS	Fetal Lung	lung
46	chr12:31881400-31882600	Active TSS	Gastric	stomach
47	chr12:31881400-31882600	Active TSS	Pancreas	Pancrea
48	chr12:31881400-31882600	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr12:31881400-31882600	Active TSS	Small Intestine	intestine
50	chr12:31881400-31882600	Active TSS	Spleen	Spleen

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