Variant report

Variant	rs12579192
Chromosome Location	chr12:31883236-31883237
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	MAX	chr12:31883104-31883343	K562	blood:	n/a	n/a
2	BCLAF1	chr12:31882035-31884018	K562	blood:	n/a	chr12:31882122-31882131 chr12:31882287-31882300 chr12:31882279-31882292
3	MYC	chr12:31880923-31883371	K562	blood:	n/a	n/a
4	MYC	chr12:31880808-31883836	K562	blood:	n/a	n/a
5	POLR2A	chr12:31880629-31885316	K562	blood:	n/a	n/a
6	JUN	chr12:31880990-31883486	K562	blood:	n/a	chr12:31881799-31881808 chr12:31882039-31882052 chr12:31881880-31881889 chr12:31881800-31881809 chr12:31882043-31882052
7	POLR2A	chr12:31880835-31885183	K562	blood:	n/a	n/a
8	POLR2A	chr12:31881301-31883845	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr12:31880977-31884148	K562	blood:	n/a	n/a
10	POLR2A	chr12:31880713-31884421	K562	blood:	n/a	n/a
11	POLR2A	chr12:31880866-31883290	GM12878	blood:	n/a	n/a
12	IRF1	chr12:31880954-31883625	K562	blood:	n/a	chr12:31881880-31881894 chr12:31882070-31882084 chr12:31881815-31881829
13	PML	chr12:31881891-31883381	K562	blood:	n/a	n/a
14	POLR2A	chr12:31880828-31887458	K562	blood:	n/a	n/a
15	HEY1	chr12:31882753-31883280	K562	blood:	n/a	n/a
16	TEAD4	chr12:31882930-31883344	K562	blood:	n/a	n/a
17	HEY1	chr12:31880662-31883334	K562	blood:	n/a	chr12:31882042-31882051 chr12:31882044-31882053 chr12:31881861-31881876
18	POLR2A	chr12:31882620-31883510	K562	blood:	n/a	n/a
19	MAX	chr12:31882764-31883458	K562	blood:	n/a	n/a
20	SETDB1	chr12:31881879-31884253	U2OS	brain:	n/a	chr12:31882193-31882217
21	ZMIZ1	chr12:31881246-31883260	K562	blood:	n/a	n/a
22	POLR2A	chr12:31881002-31883262	GM12878	blood:	n/a	n/a
23	TBP	chr12:31880942-31883406	K562	blood:	n/a	n/a
24	CCNT2	chr12:31882656-31883341	K562	blood:	n/a	n/a
25	POLR2A	chr12:31880802-31883428	K562	blood:	n/a	n/a
26	MTA3	chr12:31880964-31883250	GM12878	blood:	n/a	n/a
27	UBTF	chr12:31880695-31883363	K562	blood:	n/a	n/a
28	POLR2A	chr12:31880886-31883391	K562	blood:	n/a	n/a
29	TRIM28	chr12:31881672-31883487	K562	blood:	n/a	n/a
30	CBX3	chr12:31881323-31883896	K562	blood:	n/a	n/a
31	RCOR1	chr12:31880878-31883882	K562	blood:	n/a	n/a
32	JUND	chr12:31881296-31883371	K562	blood:	n/a	chr12:31881799-31881808 chr12:31881880-31881889 chr12:31881800-31881809 chr12:31882043-31882052
33	TBL1XR1	chr12:31881045-31883321	K562	blood:	n/a	n/a
34	MYC	chr12:31880787-31883360	K562	blood:	n/a	n/a
35	ZNF384	chr12:31882974-31883789	K562	blood:	n/a	chr12:31883116-31883124
36	POLR2A	chr12:31883211-31883322	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr12:31882812-31883246	GM12891	blood:	n/a	n/a
38	POLR2A	chr12:31882613-31883295	HL-60	blood:	n/a	n/a
39	POLR2A	chr12:31881286-31883882	K562	blood:	n/a	n/a
40	POLR2A	chr12:31880706-31885192	K562	blood:	n/a	n/a
41	POLR2A	chr12:31881134-31884115	K562	blood:	n/a	n/a
42	POLR2A	chr12:31880883-31883272	GM12891	blood:	n/a	n/a
43	HCFC1	chr12:31881221-31883298	K562	blood:	n/a	n/a
44	ZNF274	chr12:31882706-31883441	K562	blood:	n/a	n/a
45	TBL1XR1	chr12:31881304-31883305	K562	blood:	n/a	n/a
46	POLR2A	chr12:31881055-31883305	GM19099	blood:	n/a	n/a
47	TEAD4	chr12:31881155-31883330	K562	blood:	n/a	n/a
48	POLR2A	chr12:31881247-31883287	GM18526	blood:	n/a	n/a
49	EP300	chr12:31883010-31883365	K562	blood:	n/a	n/a
50	TAL1	chr12:31881857-31884124	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:31882281..31884282-chr12:32455901..32458701,2	K562	blood:
2	chr12:31882882..31884422-chr12:31893426..31895408,2	K562	blood:
3	chr12:31883178..31885919-chr12:31902028..31904052,3	K562	blood:
4	chr12:31880642..31885296-chr12:32110658..32113618,5	K562	blood:
5	chr12:31881243..31883910-chr12:32111522..32113326,3	MCF-7	breast:
6	chr12:31880350..31888706-chr12:31898122..31903847,15	K562	blood:
7	chr12:31883008..31885990-chr12:32106107..32108835,3	K562	blood:
8	chr12:31880235..31884620-chr12:31906466..31910642,5	K562	blood:
9	chr12:31477256..31480149-chr12:31881924..31883474,2	K562	blood:
10	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
ENSG00000256987	Chromatin interaction
ENSG00000174718	Chromatin interaction
ENSG00000256843	Chromatin interaction
ENSG00000223722	Chromatin interaction
ENSG00000139146	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10843996	0.96[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10843997	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844004	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11051531	0.96[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11051533	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11051548	0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11836998	0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12317948	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12581747	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59292756	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60607203	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61298599	0.83[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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31882200-31885000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr12:31882400-31883400	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr12:31882400-31883400	Flanking Active TSS	Dnd41	blood
4	chr12:31882400-31884000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr12:31882600-31884400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:31882600-31886000	Weak transcription	Gastric	stomach
7	chr12:31882800-31883600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
8	chr12:31882800-31884600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:31882800-31886000	Weak transcription	Ovary	ovary
10	chr12:31882800-31887000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:31883000-31883400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:31883000-31883400	Active TSS	Thymus	Thymus
13	chr12:31883000-31883600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:31883000-31883600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:31883000-31883600	Enhancers	Left Ventricle	heart
16	chr12:31883000-31883800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:31883000-31884200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:31883000-31884200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr12:31883000-31884200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:31883000-31884200	Weak transcription	Aorta	Aorta
21	chr12:31883000-31884200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr12:31883000-31884200	Weak transcription	Right Atrium	heart
23	chr12:31883000-31884200	Enhancers	HUVEC	blood vessel
24	chr12:31883000-31884200	Weak transcription	NHDF-Ad	bronchial
25	chr12:31883000-31884400	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr12:31883000-31884600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:31883000-31884600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:31883000-31884600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:31883000-31884600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:31883000-31884600	Weak transcription	HSMM	muscle
31	chr12:31883000-31884800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:31883000-31884800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:31883000-31884800	Weak transcription	NHLF	lung
34	chr12:31883000-31885000	Weak transcription	Fetal Kidney	kidney
35	chr12:31883000-31885200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:31883000-31885200	Weak transcription	Spleen	Spleen
37	chr12:31883000-31885400	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:31883000-31886000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:31883000-31886000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:31883000-31886000	Weak transcription	Pancreas	Pancrea
41	chr12:31883000-31886200	Weak transcription	Right Ventricle	heart
42	chr12:31883000-31887400	Enhancers	Placenta	Placenta
43	chr12:31883000-31896000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:31883200-31883400	Enhancers	Brain Anterior Caudate	brain
45	chr12:31883200-31883400	Enhancers	Brain Hippocampus Middle	brain
46	chr12:31883200-31883400	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr12:31883200-31883600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:31883200-31883600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:31883200-31883600	Enhancers	Primary T cells fromperipheralblood	blood
50	chr12:31883200-31883600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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