Variant report

Variant	rs12317948
Chromosome Location	chr12:31884832-31884833
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	ZMIZ1	chr12:31884749-31885194	K562	blood:	n/a	n/a
2	JUND	chr12:31884766-31885367	K562	blood:	n/a	n/a
3	SIN3AK20	chr12:31884518-31885316	MCF-7	breast:	n/a	n/a
4	POLR2A	chr12:31884559-31885358	HUVEC	blood vessel:	n/a	n/a
5	TCF12	chr12:31884558-31885369	SK-N-SH	brain:	n/a	n/a
6	NR3C1	chr12:31884735-31885147	A549	lung:	n/a	chr12:31884944-31884970 chr12:31884914-31884940 chr12:31884950-31884964 chr12:31884914-31884940 chr12:31884919-31884935 chr12:31884919-31884935 chr12:31884944-31884970 chr12:31884944-31884970 chr12:31884919-31884935 chr12:31884914-31884940 chr12:31884920-31884934 chr12:31884917-31884938 chr12:31884914-31884940 chr12:31884920-31884934 chr12:31884920-31884934 chr12:31884944-31884970 chr12:31884914-31884940 chr12:31884944-31884970 chr12:31884919-31884935 chr12:31884918-31884935 chr12:31884950-31884964
7	PBX3	chr12:31884652-31885237	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr12:31884589-31885395	HUVEC	blood vessel:	n/a	n/a
9	GATA2	chr12:31884703-31885171	K562	blood:	n/a	chr12:31884970-31884984 chr12:31884975-31884984 chr12:31884976-31884993
10	PML	chr12:31884669-31885224	K562	blood:	n/a	n/a
11	TCF12	chr12:31884606-31885329	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr12:31880629-31885316	K562	blood:	n/a	n/a
13	JUN	chr12:31883565-31886531	K562	blood:	n/a	chr12:31885991-31885999 chr12:31885991-31885999 chr12:31885984-31885995 chr12:31885923-31885932 chr12:31885992-31885999
14	POLR2A	chr12:31880835-31885183	K562	blood:	n/a	n/a
15	SP1	chr12:31884582-31885320	HCT-116	colon:	n/a	n/a
16	REST	chr12:31884816-31885150	K562	blood:	n/a	n/a
17	JUND	chr12:31884624-31885216	SK-N-SH	brain:	n/a	n/a
18	CBX3	chr12:31884720-31885288	K562	blood:	n/a	n/a
19	POLR2A	chr12:31884514-31885442	HUVEC	blood vessel:	n/a	n/a
20	ATF1	chr12:31884800-31885188	K562	blood:	n/a	n/a
21	POLR2A	chr12:31884823-31885089	HepG2	liver:	n/a	n/a
22	POLR2A	chr12:31884586-31885227	K562	blood:	n/a	n/a
23	NFYA	chr12:31884757-31885087	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr12:31880828-31887458	K562	blood:	n/a	n/a
25	MEF2A	chr12:31884537-31885217	SK-N-SH	brain:	n/a	chr12:31884848-31884863 chr12:31884875-31884890 chr12:31884878-31884889 chr12:31884874-31884895
26	GATA2	chr12:31884608-31885672	HUVEC	blood vessel:	n/a	chr12:31884970-31884984 chr12:31884975-31884984 chr12:31884976-31884993
27	GATA3	chr12:31884503-31885380	SK-N-SH	brain:	n/a	chr12:31884975-31884984 chr12:31884974-31884982 chr12:31884976-31884993
28	ZNF143	chr12:31884812-31885061	K562	blood:	n/a	n/a
29	FOS	chr12:31884762-31885266	HUVEC	blood vessel:	n/a	n/a
30	ARID3A	chr12:31884744-31885249	K562	blood:	n/a	n/a
31	GATA3	chr12:31884618-31885150	T-47D	breast:	n/a	chr12:31884975-31884984 chr12:31884974-31884982 chr12:31884976-31884993
32	NFYB	chr12:31884745-31885052	GM12878	blood:	n/a	n/a
33	POLR2A	chr12:31884800-31885240	MCF10A-Er-Src	breast:	n/a	n/a
34	TEAD4	chr12:31884593-31885271	K562	blood:	n/a	n/a
35	NR2F2	chr12:31884756-31885146	K562	blood:	n/a	n/a
36	TCF7L2	chr12:31884725-31885107	PANC-1	pancreas:	n/a	chr12:31884757-31884771
37	POLR2A	chr12:31884608-31885241	SK-N-SH	brain:	n/a	n/a
38	HDAC2	chr12:31884783-31885141	MCF-7	breast:	n/a	chr12:31884974-31884983
39	GATA2	chr12:31884705-31885173	K562	blood:	n/a	chr12:31884970-31884984 chr12:31884975-31884984 chr12:31884976-31884993
40	NR3C1	chr12:31884776-31885104	ECC-1	luminal epithelium:	n/a	chr12:31884944-31884970 chr12:31884914-31884940 chr12:31884950-31884964 chr12:31884914-31884940 chr12:31884919-31884935 chr12:31884919-31884935 chr12:31884944-31884970 chr12:31884944-31884970 chr12:31884919-31884935 chr12:31884914-31884940 chr12:31884920-31884934 chr12:31884917-31884938 chr12:31884914-31884940 chr12:31884920-31884934 chr12:31884920-31884934 chr12:31884944-31884970 chr12:31884914-31884940 chr12:31884944-31884970 chr12:31884919-31884935 chr12:31884918-31884935 chr12:31884950-31884964
41	JUN	chr12:31884753-31885313	HUVEC	blood vessel:	n/a	n/a
42	SETDB1	chr12:31884590-31885284	U2OS	brain:	n/a	n/a
43	POLR2A	chr12:31884764-31885112	HCT-116	colon:	n/a	n/a
44	GATA3	chr12:31884703-31885155	T-47D	breast:	n/a	chr12:31884975-31884984 chr12:31884974-31884982 chr12:31884976-31884993
45	STAT3	chr12:31884820-31885192	MCF10A-Er-Src	breast:	n/a	chr12:31884849-31884857
46	GATA3	chr12:31884719-31885263	MCF-7	breast:	n/a	chr12:31884975-31884984 chr12:31884974-31884982 chr12:31884976-31884993
47	NR3C1	chr12:31884646-31885207	A549	lung:	n/a	chr12:31884944-31884970 chr12:31884914-31884940 chr12:31884950-31884964 chr12:31884914-31884940 chr12:31884919-31884935 chr12:31884919-31884935 chr12:31884944-31884970 chr12:31884944-31884970 chr12:31884919-31884935 chr12:31884914-31884940 chr12:31884920-31884934 chr12:31884917-31884938 chr12:31884914-31884940 chr12:31884920-31884934 chr12:31884920-31884934 chr12:31884944-31884970 chr12:31884914-31884940 chr12:31884944-31884970 chr12:31884919-31884935 chr12:31884918-31884935 chr12:31884950-31884964
48	GATA3	chr12:31884505-31885357	SK-N-SH	brain:	n/a	chr12:31884975-31884984 chr12:31884974-31884982 chr12:31884976-31884993
49	MEF2A	chr12:31884645-31885103	K562	blood:	n/a	chr12:31884848-31884863 chr12:31884875-31884890 chr12:31884878-31884889 chr12:31884874-31884895
50	NR3C1	chr12:31884767-31885205	A549	lung:	n/a	chr12:31884944-31884970 chr12:31884914-31884940 chr12:31884950-31884964 chr12:31884914-31884940 chr12:31884919-31884935 chr12:31884919-31884935 chr12:31884944-31884970 chr12:31884944-31884970 chr12:31884919-31884935 chr12:31884914-31884940 chr12:31884920-31884934 chr12:31884917-31884938 chr12:31884914-31884940 chr12:31884920-31884934 chr12:31884920-31884934 chr12:31884944-31884970 chr12:31884914-31884940 chr12:31884944-31884970 chr12:31884919-31884935 chr12:31884918-31884935 chr12:31884950-31884964

No.	Distal block	Cell Line	Cell type
1	chr12:31878269..31883010-chr12:31884108..31887220,4	MCF-7	breast:
2	chr12:31884351..31886609-chr12:31902358..31904418,2	MCF-7	breast:
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	chr12:31881279..31883605-chr12:31884352..31886662,3	MCF-7	breast:
8	chr12:31883008..31885990-chr12:32106107..32108835,3	K562	blood:

Variant related genes	Relation type
AMN1	TF binding region
ENSG00000174718	Chromatin interaction
ENSG00000256987	Chromatin interaction
ENSG00000256843	Chromatin interaction
ENSG00000151743	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10843996	0.88[ASN][1000 genomes]
rs10843997	0.88[ASN][1000 genomes]
rs10844004	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11051531	0.88[ASN][1000 genomes]
rs11051533	0.88[ASN][1000 genomes]
rs11051548	1.00[ASW][hapmap];0.87[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11829645	1.00[CEU][hapmap]
rs11836998	0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[ASN][1000 genomes]
rs12318379	1.00[CEU][hapmap]
rs12579192	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12581747	0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1259744	1.00[CEU][hapmap]
rs4354774	0.82[AFR][1000 genomes]
rs4931550	0.88[AFR][1000 genomes]
rs59292756	0.88[ASN][1000 genomes]
rs60607203	0.89[ASN][1000 genomes]
rs7132137	1.00[CEU][hapmap]
rs7967487	1.00[CEU][hapmap]

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:90 , 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	chr12:31882600-31886000	Weak transcription	Gastric	stomach
3	chr12:31882800-31886000	Weak transcription	Ovary	ovary
4	chr12:31882800-31887000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:31883000-31885000	Weak transcription	Fetal Kidney	kidney
6	chr12:31883000-31885200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:31883000-31885200	Weak transcription	Spleen	Spleen
8	chr12:31883000-31885400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:31883000-31886000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:31883000-31886000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:31883000-31886000	Weak transcription	Pancreas	Pancrea
12	chr12:31883000-31886200	Weak transcription	Right Ventricle	heart
13	chr12:31883000-31887400	Enhancers	Placenta	Placenta
14	chr12:31883000-31896000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:31883200-31885200	Enhancers	Primary hematopoietic stem cells	blood
16	chr12:31883200-31885800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:31883200-31886000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:31883200-31886000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:31883200-31886000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:31883200-31886000	Weak transcription	Brain Angular Gyrus	brain
21	chr12:31883200-31886000	Weak transcription	Lung	lung
22	chr12:31883200-31886000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:31883200-31886000	Enhancers	Hela-S3	cervix
24	chr12:31883200-31886200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:31883200-31886200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:31883200-31887000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr12:31883200-31887400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr12:31883200-31887600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:31883200-31887600	Enhancers	Fetal Thymus	thymus
30	chr12:31883200-31889400	Weak transcription	Primary T cells from cord blood	blood
31	chr12:31883400-31886600	Weak transcription	Thymus	Thymus
32	chr12:31883600-31886000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr12:31883800-31885400	Enhancers	Brain Anterior Caudate	brain
34	chr12:31883800-31886000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:31883800-31886000	Weak transcription	Dnd41	blood
36	chr12:31883800-31886400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr12:31884000-31885000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr12:31884000-31885800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr12:31884000-31887400	Enhancers	Left Ventricle	heart
40	chr12:31884200-31885800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr12:31884200-31886000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr12:31884200-31886200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr12:31884200-31886800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:31884200-31888800	Enhancers	NHDF-Ad	bronchial
45	chr12:31884400-31886000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:31884400-31887200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:31884400-31887400	Enhancers	Psoas Muscle	Psoas
48	chr12:31884600-31885000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr12:31884600-31885000	Enhancers	HSMMtube	muscle
50	chr12:31884600-31885200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell

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