Variant report

Variant	rs74087512
Chromosome Location	chr12:31884106-31884107
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr12:31884023-31884307	PANC-1	pancreas:	n/a	n/a
2	MAX	chr12:31884087-31884485	K562	blood:	n/a	n/a
3	POLR2A	chr12:31880629-31885316	K562	blood:	n/a	n/a
4	POLR2A	chr12:31883437-31884110	K562	blood:	n/a	n/a
5	JUN	chr12:31883565-31886531	K562	blood:	n/a	chr12:31885991-31885999 chr12:31885991-31885999 chr12:31885984-31885995 chr12:31885923-31885932 chr12:31885992-31885999
6	POLR2A	chr12:31880835-31885183	K562	blood:	n/a	n/a
7	POLR2A	chr12:31880977-31884148	K562	blood:	n/a	n/a
8	POLR2A	chr12:31880713-31884421	K562	blood:	n/a	n/a
9	POLR2A	chr12:31880828-31887458	K562	blood:	n/a	n/a
10	SETDB1	chr12:31881879-31884253	U2OS	brain:	n/a	chr12:31882193-31882217
11	MAFK	chr12:31884072-31884374	HepG2	liver:	n/a	n/a
12	POLR2A	chr12:31883990-31884190	MCF10A-Er-Src	breast:	n/a	n/a
13	EP300	chr12:31883635-31884207	K562	blood:	n/a	n/a
14	POLR2A	chr12:31880706-31885192	K562	blood:	n/a	n/a
15	POLR2A	chr12:31881134-31884115	K562	blood:	n/a	n/a
16	BACH1	chr12:31883780-31884181	K562	blood:	n/a	n/a
17	POLR2A	chr12:31883869-31884262	MCF10A-Er-Src	breast:	n/a	n/a
18	TAL1	chr12:31881857-31884124	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

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	chr12:31880350..31888706-chr12:31898122..31903847,15	K562	blood:
6	chr12:31863317..31864932-chr12:31883835..31885754,2	K562	blood:
7	chr12:31883008..31885990-chr12:32106107..32108835,3	K562	blood:
8	chr12:31880235..31884620-chr12:31906466..31910642,5	K562	blood:

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

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

No data

Variant related genes	Relation type
AMN1	TF binding region
ENSG00000256843	Chromatin interaction
ENSG00000256987	Chromatin interaction
ENSG00000223722	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]
rs74087504	1.00[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]
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:88 , 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	chr12:31882600-31884400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:31882600-31886000	Weak transcription	Gastric	stomach
4	chr12:31882800-31884600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:31882800-31886000	Weak transcription	Ovary	ovary
6	chr12:31882800-31887000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:31883000-31884200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:31883000-31884200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:31883000-31884200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:31883000-31884200	Weak transcription	Aorta	Aorta
11	chr12:31883000-31884200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr12:31883000-31884200	Weak transcription	Right Atrium	heart
13	chr12:31883000-31884200	Enhancers	HUVEC	blood vessel
14	chr12:31883000-31884200	Weak transcription	NHDF-Ad	bronchial
15	chr12:31883000-31884400	Active TSS	Sigmoid Colon	Sigmoid Colon
16	chr12:31883000-31884600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:31883000-31884600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:31883000-31884600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:31883000-31884600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:31883000-31884600	Weak transcription	HSMM	muscle
21	chr12:31883000-31884800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:31883000-31884800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:31883000-31884800	Weak transcription	NHLF	lung
24	chr12:31883000-31885000	Weak transcription	Fetal Kidney	kidney
25	chr12:31883000-31885200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:31883000-31885200	Weak transcription	Spleen	Spleen
27	chr12:31883000-31885400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:31883000-31886000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:31883000-31886000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:31883000-31886000	Weak transcription	Pancreas	Pancrea
31	chr12:31883000-31886200	Weak transcription	Right Ventricle	heart
32	chr12:31883000-31887400	Enhancers	Placenta	Placenta
33	chr12:31883000-31896000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:31883200-31884200	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr12:31883200-31884200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:31883200-31884200	Weak transcription	Brain Substantia Nigra	brain
37	chr12:31883200-31884200	Active TSS	Psoas Muscle	Psoas
38	chr12:31883200-31884200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:31883200-31884200	Weak transcription	Small Intestine	intestine
40	chr12:31883200-31884400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:31883200-31884400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:31883200-31884600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:31883200-31884600	Weak transcription	Adipose Nuclei	Adipose
44	chr12:31883200-31884600	Weak transcription	Fetal Heart	heart
45	chr12:31883200-31884600	Weak transcription	Stomach Mucosa	stomach
46	chr12:31883200-31884600	Weak transcription	HepG2	liver
47	chr12:31883200-31884600	Weak transcription	HSMMtube	muscle
48	chr12:31883200-31884600	Enhancers	Osteobl	bone
49	chr12:31883200-31884800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:31883200-31884800	Weak transcription	Rectal Mucosa Donor 29	rectum

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