Variant report

Variant	rs7132203
Chromosome Location	chr12:40501725-40501726
allele	G/T
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	FOXM1	chr12:40501240-40501826	GM12878	blood:	n/a	n/a
2	CTCF	chr12:40501199-40501739	A549	lung:	n/a	chr12:40501517-40501526 chr12:40501512-40501528 chr12:40501506-40501527 chr12:40501513-40501526 chr12:40501513-40501526 chr12:40501514-40501524 chr12:40501511-40501529
3	RELA	chr12:40501399-40502382	GM19099	blood:	n/a	n/a
4	MXI1	chr12:40501252-40501888	IMR90	lung:	n/a	n/a
5	HDAC2	chr12:40501220-40501733	MCF-7	breast:	n/a	n/a
6	TCF12	chr12:40500905-40501778	A549	lung:	n/a	n/a
7	RAD21	chr12:40501223-40501804	ECC-1	luminal epithelium:	n/a	chr12:40501509-40501528 chr12:40501513-40501523 chr12:40501511-40501523
8	CTCF	chr12:40501302-40501835	K562	blood:	n/a	chr12:40501517-40501526 chr12:40501512-40501528 chr12:40501506-40501527 chr12:40501513-40501526 chr12:40501513-40501526 chr12:40501514-40501524 chr12:40501511-40501529
9	RAD21	chr12:40501121-40501751	MCF-7	breast:	n/a	chr12:40501509-40501528 chr12:40501513-40501523 chr12:40501511-40501523
10	MYC	chr12:40501345-40501740	K562	blood:	n/a	n/a
11	MAZ	chr12:40501346-40501747	K562	blood:	n/a	n/a
12	MAX	chr12:40501086-40501788	A549	lung:	n/a	n/a
13	E2F6	chr12:40501129-40501780	H1-hESC	embryonic stem cell:	n/a	chr12:40501478-40501493 chr12:40501468-40501482 chr12:40501471-40501485 chr12:40501476-40501483
14	CTCF	chr12:40501066-40501786	HCT-116	colon:	n/a	chr12:40501517-40501526 chr12:40501512-40501528 chr12:40501506-40501527 chr12:40501513-40501526 chr12:40501513-40501526 chr12:40501514-40501524 chr12:40501511-40501529
15	RAD21	chr12:40501278-40501779	H1-hESC	embryonic stem cell:	n/a	chr12:40501509-40501528 chr12:40501513-40501523 chr12:40501511-40501523
16	SIN3A	chr12:40501391-40501765	H1-hESC	embryonic stem cell:	n/a	n/a
17	SMC3	chr12:40501268-40501737	HepG2	liver:	n/a	chr12:40501519-40501527 chr12:40501513-40501523 chr12:40501513-40501527
18	SMC3	chr12:40501309-40501729	GM12878	blood:	n/a	chr12:40501519-40501527 chr12:40501513-40501523 chr12:40501513-40501527
19	MAX	chr12:40501172-40501802	HCT-116	colon:	n/a	n/a
20	SIN3AK20	chr12:40500931-40501822	MCF-7	breast:	n/a	n/a
21	RAD21	chr12:40501334-40501735	SK-N-SH_RA	brain:	n/a	chr12:40501509-40501528 chr12:40501513-40501523 chr12:40501511-40501523
22	CTCF	chr12:40501093-40501899	SK-N-SH	brain:	n/a	chr12:40501517-40501526 chr12:40501512-40501528 chr12:40501506-40501527 chr12:40501513-40501526 chr12:40501513-40501526 chr12:40501514-40501524 chr12:40501511-40501529
23	MTA3	chr12:40501353-40501786	GM12878	blood:	n/a	n/a
24	CTCF	chr12:40501300-40501770	A549	lung:	n/a	chr12:40501517-40501526 chr12:40501512-40501528 chr12:40501506-40501527 chr12:40501513-40501526 chr12:40501513-40501526 chr12:40501514-40501524 chr12:40501511-40501529
25	SMC3	chr12:40501192-40501725	Hela-S3	cervix:	n/a	chr12:40501519-40501527 chr12:40501513-40501523 chr12:40501513-40501527
26	CTCF	chr12:40501280-40501741	K562	blood:	n/a	chr12:40501517-40501526 chr12:40501512-40501528 chr12:40501506-40501527 chr12:40501513-40501526 chr12:40501513-40501526 chr12:40501514-40501524 chr12:40501511-40501529
27	E2F6	chr12:40501107-40501796	A549	lung:	n/a	chr12:40501478-40501493 chr12:40501468-40501482 chr12:40501471-40501485 chr12:40501476-40501483
28	KAP1	chr12:40500195-40501769	HEK293	kidney:	n/a	n/a
29	RUNX3	chr12:40501328-40501793	GM12878	blood:	n/a	n/a
30	BHLHE40	chr12:40501287-40502380	GM12878	blood:	n/a	chr12:40502192-40502208
31	CTCF	chr12:40501246-40501740	IMR90	lung:	n/a	chr12:40501517-40501526 chr12:40501512-40501528 chr12:40501506-40501527 chr12:40501513-40501526 chr12:40501513-40501526 chr12:40501514-40501524 chr12:40501511-40501529
32	CTCF	chr12:40501299-40501732	HepG2	liver:	n/a	chr12:40501517-40501526 chr12:40501512-40501528 chr12:40501506-40501527 chr12:40501513-40501526 chr12:40501513-40501526 chr12:40501514-40501524 chr12:40501511-40501529
33	EP300	chr12:40501196-40501788	A549	lung:	n/a	n/a
34	MAX	chr12:40501303-40501725	SK-N-SH	brain:	n/a	n/a
35	MYC	chr12:40501325-40501726	NB4	blood:	n/a	n/a
36	RAD21	chr12:40501198-40501779	A549	lung:	n/a	chr12:40501509-40501528 chr12:40501513-40501523 chr12:40501511-40501523
37	MAX	chr12:40501086-40501853	A549	lung:	n/a	n/a
38	TCF12	chr12:40501415-40501738	GM12878	blood:	n/a	n/a
39	RAD21	chr12:40500883-40501897	SK-N-SH	brain:	n/a	chr12:40501509-40501528 chr12:40501513-40501523 chr12:40501511-40501523
40	CTCF	chr12:40501089-40501969	A549	lung:	n/a	chr12:40501517-40501526 chr12:40501512-40501528 chr12:40501506-40501527 chr12:40501513-40501526 chr12:40501513-40501526 chr12:40501514-40501524 chr12:40501511-40501529
41	RCOR1	chr12:40501322-40501822	K562	blood:	n/a	n/a
42	SMC3	chr12:40501098-40501877	SK-N-SH	brain:	n/a	chr12:40501519-40501527 chr12:40501513-40501523 chr12:40501513-40501527
43	RFX5	chr12:40501246-40501748	Hela-S3	cervix:	n/a	chr12:40501314-40501322
44	MXI1	chr12:40500952-40501858	SK-N-SH	brain:	n/a	n/a
45	RAD21	chr12:40501218-40501754	HCT-116	colon:	n/a	chr12:40501509-40501528 chr12:40501513-40501523 chr12:40501511-40501523
46	RAD21	chr12:40501243-40501742	H1-hESC	embryonic stem cell:	n/a	chr12:40501509-40501528 chr12:40501513-40501523 chr12:40501511-40501523
47	RAD21	chr12:40500967-40501734	IMR90	lung:	n/a	chr12:40501509-40501528 chr12:40501513-40501523 chr12:40501511-40501523
48	KAP1	chr12:40500753-40501728	U2OS	brain:	n/a	n/a
49	RAD21	chr12:40501261-40501752	HCT-116	colon:	n/a	chr12:40501509-40501528 chr12:40501513-40501523 chr12:40501511-40501523
50	CTCF	chr12:40501210-40501781	MCF-7	breast:	n/a	chr12:40501517-40501526 chr12:40501512-40501528 chr12:40501506-40501527 chr12:40501513-40501526 chr12:40501513-40501526 chr12:40501514-40501524 chr12:40501511-40501529

No.	Distal block	Cell Line	Cell type
1	chr12:40404217..40405558-chr12:40500388..40503110,15	MCF-7	breast:
2	chr12:40404779..40405544-chr12:40501079..40501769,2	K562	blood:
3	chr12:40413403..40416172-chr12:40500145..40501731,2	K562	blood:
4	chr12:40425798..40426494-chr12:40501097..40501912,2	MCF-7	breast:
5	chr12:40158505..40159798-chr12:40501059..40502327,6	MCF-7	breast:
6	chr12:40158518..40159407-chr12:40501012..40501936,2	K562	blood:

Variant related genes	Relation type
SLC2A13	TF binding region

Extended variants
information (count: 66 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1031996	0.90[EUR][1000 genomes]
rs10784370	0.91[EUR][1000 genomes]
rs10784381	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10784386	0.90[EUR][1000 genomes]
rs10784387	0.83[ASN][1000 genomes]
rs10878113	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1117378	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11175275	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11175326	0.85[EUR][1000 genomes]
rs12230710	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1388589	0.84[EUR][1000 genomes]
rs1388590	0.83[EUR][1000 genomes]
rs1472118	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1482284	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1482285	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1482287	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1482288	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1491927	0.82[EUR][1000 genomes]
rs1491931	0.86[EUR][1000 genomes]
rs1873612	0.84[EUR][1000 genomes]
rs1905121	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1948380	0.82[EUR][1000 genomes]
rs2170503	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2404573	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2638231	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2638232	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2638249	0.82[EUR][1000 genomes]
rs2638254	0.81[EUR][1000 genomes]
rs2638257	0.84[EUR][1000 genomes]
rs2638258	0.84[EUR][1000 genomes]
rs2638260	0.84[EUR][1000 genomes]
rs2638262	0.86[EUR][1000 genomes]
rs2638263	0.86[EUR][1000 genomes]
rs2638264	0.86[EUR][1000 genomes]
rs2638266	0.86[EUR][1000 genomes]
rs2708449	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2708464	0.84[EUR][1000 genomes]
rs2708466	0.84[EUR][1000 genomes]
rs2708473	0.83[EUR][1000 genomes]
rs2708474	0.83[EUR][1000 genomes]
rs2708480	0.82[EUR][1000 genomes]
rs2708485	0.82[EUR][1000 genomes]
rs2708491	0.80[EUR][1000 genomes]
rs2708492	0.80[EUR][1000 genomes]
rs3812791	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4363681	0.84[EUR][1000 genomes]
rs6581514	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6581519	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs716231	0.84[EUR][1000 genomes]
rs728622	0.82[EUR][1000 genomes]
rs728623	0.82[EUR][1000 genomes]
rs729216	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7306140	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7310430	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs878010	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs900253	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs937109	0.89[EUR][1000 genomes]
rs937110	0.90[EUR][1000 genomes]
rs937111	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv899028	chr12:40478652-40524180	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv899029	chr12:40478652-40536061	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv1836585	chr12:40492814-40540939	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1839483	chr12:40492814-40540939	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1846566	chr12:40498683-40527395	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv1838306	chr12:40499495-40527395	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7132203	SLC2A13	Cis_1M	lymphoblastoid	RTeQTL
rs7132203	AC079630.2	cis	Esophagus Mucosa	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40497200-40502200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:40498200-40501800	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr12:40498200-40501800	Active TSS	NHLF	lung
4	chr12:40500200-40502200	Enhancers	Placenta	Placenta
5	chr12:40500800-40501800	Flanking Active TSS	GM12878-XiMat	blood
6	chr12:40500800-40502000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:40501200-40501800	Active TSS	Brain Hippocampus Middle	brain
8	chr12:40501200-40501800	Active TSS	Stomach Smooth Muscle	stomach
9	chr12:40501200-40502800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:40501200-40510200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:40501400-40501800	Enhancers	Fetal Lung	lung
12	chr12:40501400-40501800	Flanking Active TSS	HepG2	liver
13	chr12:40501600-40501800	Flanking Active TSS	Primary B cells from peripheral blood	blood
14	chr12:40501600-40501800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr12:40501600-40501800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:40501600-40501800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr12:40501600-40501800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr12:40501600-40501800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:40501600-40501800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr12:40501600-40501800	Enhancers	Brain Angular Gyrus	brain
21	chr12:40501600-40501800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr12:40501600-40501800	Enhancers	Ovary	ovary
23	chr12:40501600-40501800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr12:40501600-40501800	Flanking Active TSS	Hela-S3	cervix
25	chr12:40501600-40502200	Active TSS	K562	blood
26	chr12:40501600-40502400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:40501600-40502600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:40501600-40504200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:40501600-40504400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:40501600-40504400	Weak transcription	NHDF-Ad	bronchial

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