Variant report

Variant	rs74087505
Chromosome Location	chr12:31882855-31882856
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	REST	chr12:31880987-31882899	H1-neurons	neurons:	n/a	chr12:31881881-31881894 chr12:31882831-31882849
2	JUN	chr12:31881255-31883227	K562	blood:	n/a	chr12:31881799-31881808 chr12:31882039-31882052 chr12:31881880-31881889 chr12:31881800-31881809 chr12:31882043-31882052
3	BCLAF1	chr12:31882035-31884018	K562	blood:	n/a	chr12:31882122-31882131 chr12:31882287-31882300 chr12:31882279-31882292
4	E2F6	chr12:31881226-31882986	A549	lung:	n/a	chr12:31882044-31882053 chr12:31882042-31882051
5	MAFK	chr12:31881310-31883016	K562	blood:	n/a	n/a
6	POLR2A	chr12:31882758-31882889	HepG2	liver:	n/a	n/a
7	MYC	chr12:31880923-31883371	K562	blood:	n/a	n/a
8	MYC	chr12:31880808-31883836	K562	blood:	n/a	n/a
9	POLR2A	chr12:31880629-31885316	K562	blood:	n/a	n/a
10	ZNF263	chr12:31881464-31882986	HEK293-T-REx	kidney:	n/a	chr12:31881822-31881831
11	JUN	chr12:31880990-31883486	K562	blood:	n/a	chr12:31881799-31881808 chr12:31882039-31882052 chr12:31881880-31881889 chr12:31881800-31881809 chr12:31882043-31882052
12	POLR2A	chr12:31880835-31885183	K562	blood:	n/a	n/a
13	STAT5A	chr12:31881869-31882888	GM12878	blood:	n/a	n/a
14	BACH1	chr12:31882637-31882951	K562	blood:	n/a	n/a
15	CHD2	chr12:31881354-31883175	K562	blood:	n/a	chr12:31881817-31881827
16	POLR2A	chr12:31881301-31883845	HUVEC	blood vessel:	n/a	n/a
17	WRNIP1	chr12:31881366-31883032	GM12878	blood:	n/a	n/a
18	POLR2A	chr12:31880977-31884148	K562	blood:	n/a	n/a
19	POLR2A	chr12:31880713-31884421	K562	blood:	n/a	n/a
20	POLR2A	chr12:31880866-31883290	GM12878	blood:	n/a	n/a
21	IRF1	chr12:31880954-31883625	K562	blood:	n/a	chr12:31881880-31881894 chr12:31882070-31882084 chr12:31881815-31881829
22	MAZ	chr12:31880964-31883087	K562	blood:	n/a	n/a
23	PML	chr12:31881891-31883381	K562	blood:	n/a	n/a
24	POLR2A	chr12:31880828-31887458	K562	blood:	n/a	n/a
25	POLR2A	chr12:31881475-31882965	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr12:31880947-31883037	Hela-S3	cervix:	n/a	n/a
27	CUX1	chr12:31881194-31883093	K562	blood:	n/a	n/a
28	TCF12	chr12:31881137-31883172	A549	lung:	n/a	n/a
29	BHLHE40	chr12:31881039-31883138	K562	blood:	n/a	n/a
30	ZNF143	chr12:31881612-31882941	K562	blood:	n/a	chr12:31882204-31882213 chr12:31882206-31882215
31	HEY1	chr12:31882753-31883280	K562	blood:	n/a	n/a
32	HEY1	chr12:31880662-31883334	K562	blood:	n/a	chr12:31882042-31882051 chr12:31882044-31882053 chr12:31881861-31881876
33	POLR2A	chr12:31882620-31883510	K562	blood:	n/a	n/a
34	MAX	chr12:31882764-31883458	K562	blood:	n/a	n/a
35	SETDB1	chr12:31881879-31884253	U2OS	brain:	n/a	chr12:31882193-31882217
36	ZMIZ1	chr12:31881246-31883260	K562	blood:	n/a	n/a
37	POLR2A	chr12:31881362-31882963	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr12:31881044-31882860	K562	blood:	n/a	chr12:31882041-31882054
39	POLR2A	chr12:31881002-31883262	GM12878	blood:	n/a	n/a
40	TBP	chr12:31880942-31883406	K562	blood:	n/a	n/a
41	SPI1	chr12:31882570-31883001	HL-60	blood:	n/a	n/a
42	CCNT2	chr12:31882656-31883341	K562	blood:	n/a	n/a
43	FOSL2	chr12:31881800-31883037	A549	lung:	n/a	chr12:31881880-31881889 chr12:31881800-31881809 chr12:31882043-31882052
44	POLR2A	chr12:31880802-31883428	K562	blood:	n/a	n/a
45	MTA3	chr12:31880964-31883250	GM12878	blood:	n/a	n/a
46	UBTF	chr12:31880695-31883363	K562	blood:	n/a	n/a
47	POLR2A	chr12:31880886-31883391	K562	blood:	n/a	n/a
48	TRIM28	chr12:31881672-31883487	K562	blood:	n/a	n/a
49	GATA3	chr12:31881461-31883046	A549	lung:	n/a	n/a
50	CBX3	chr12:31881323-31883896	K562	blood:	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	chr12:31880708..31883036-chr12:32258362..32261321,3	K562	blood:
6	chr12:31880350..31888706-chr12:31898122..31903847,15	K562	blood:
7	chr12:31880235..31884620-chr12:31906466..31910642,5	K562	blood:
8	chr12:31477256..31480149-chr12:31881924..31883474,2	K562	blood:
9	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
ENSG00000174718	Chromatin interaction
ENSG00000139146	Chromatin interaction
ENSG00000256843	Chromatin interaction
ENSG00000151746	Chromatin interaction
ENSG00000257530	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	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11836727	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11836739	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28414007	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55654071	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57003468	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57914624	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60077276	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60314175	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60342738	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60685674	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60923381	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74085202	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087504	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087506	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087511	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087512	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087514	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74087517	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31880800-31883000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:31881000-31883000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:31881000-31883000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr12:31881000-31883000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr12:31881000-31883000	Active TSS	Psoas Muscle	Psoas
6	chr12:31881000-31883200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr12:31881000-31883200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:31881000-31883200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:31881200-31883000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:31881200-31883000	Active TSS	Aorta	Aorta
11	chr12:31881200-31883000	Active TSS	HSMM	muscle
12	chr12:31881200-31883200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr12:31881200-31883200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:31881200-31883200	Active TSS	HSMMtube	muscle
15	chr12:31881400-31883000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:31881400-31883000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:31881400-31883000	Active TSS	Fetal Brain Male	brain
18	chr12:31881400-31883200	Active TSS	Esophagus	oesophagus
19	chr12:31881400-31883200	Active TSS	GM12878-XiMat	blood
20	chr12:31882000-31883000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:31882000-31883000	Active TSS	Right Atrium	heart
22	chr12:31882200-31883000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:31882200-31883000	Flanking Active TSS	Placenta	Placenta
24	chr12:31882200-31883000	Flanking Active TSS	NHEK	skin
25	chr12:31882200-31883200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr12:31882200-31883200	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr12:31882200-31883200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr12:31882200-31883200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:31882200-31883200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr12:31882200-31883200	Flanking Active TSS	Hela-S3	cervix
31	chr12:31882200-31885000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr12:31882400-31883000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr12:31882400-31883000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:31882400-31883000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr12:31882400-31883000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr12:31882400-31883000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:31882400-31883000	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr12:31882400-31883000	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr12:31882400-31883000	Flanking Active TSS	Fetal Kidney	kidney
40	chr12:31882400-31883000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr12:31882400-31883000	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr12:31882400-31883000	Flanking Active TSS	HUVEC	blood vessel
43	chr12:31882400-31883000	Flanking Active TSS	NH-A	brain
44	chr12:31882400-31883200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:31882400-31883200	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr12:31882400-31883200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:31882400-31883200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr12:31882400-31883200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr12:31882400-31883200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr12:31882400-31883200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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