Variant report

Variant	rs17184182
Chromosome Location	chr12:67662924-67662925
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	MAZ	chr12:67662014-67664309	K562	blood:	n/a	chr12:67663308-67663317 chr12:67664044-67664053 chr12:67663322-67663332
2	POLR2A	chr12:67662103-67664123	ECC-1	luminal epithelium:	n/a	n/a
3	BHLHE40	chr12:67662083-67663581	K562	blood:	n/a	n/a
4	SP1	chr12:67662059-67663551	A549	lung:	n/a	chr12:67662941-67662948 chr12:67663103-67663112 chr12:67663102-67663114 chr12:67663104-67663113 chr12:67663103-67663113 chr12:67663102-67663114
5	POLR2A	chr12:67662028-67663951	Hela-S3	cervix:	n/a	n/a
6	GTF2F1	chr12:67662214-67663841	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZBTB33	chr12:67662140-67663567	SK-N-SH	brain:	n/a	chr12:67662928-67662937 chr12:67663025-67663034 chr12:67662929-67662939
8	REST	chr12:67662161-67663642	HL-60	blood:	n/a	chr12:67663453-67663471
9	EGR1	chr12:67662886-67663565	ECC-1	luminal epithelium:	n/a	chr12:67663105-67663118 chr12:67663099-67663112 chr12:67663099-67663112 chr12:67663227-67663237 chr12:67663100-67663109 chr12:67663099-67663112 chr12:67663099-67663109 chr12:67663103-67663113 chr12:67663040-67663049
10	ELF1	chr12:67662830-67664118	GM12878	blood:	n/a	chr12:67663097-67663109 chr12:67663103-67663115
11	E2F6	chr12:67662149-67663727	K562	blood:	n/a	chr12:67663607-67663617 chr12:67662620-67662629 chr12:67663228-67663237 chr12:67663099-67663109 chr12:67663104-67663113
12	CREB1	chr12:67662073-67663902	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr12:67662131-67664151	Hela-S3	cervix:	n/a	chr12:67663308-67663317 chr12:67664044-67664053 chr12:67663322-67663332
14	MXI1	chr12:67662107-67664140	HepG2	liver:	n/a	n/a
15	MAZ	chr12:67661971-67664386	IMR90	lung:	n/a	chr12:67663308-67663317 chr12:67664044-67664053 chr12:67663322-67663332
16	MYC	chr12:67662281-67663632	K562	blood:	n/a	chr12:67663308-67663317 chr12:67663322-67663332
17	POLR2A	chr12:67662088-67663570	SK-N-SH	brain:	n/a	n/a
18	SIX5	chr12:67662309-67663004	K562	blood:	n/a	chr12:67662669-67662678
19	POLR2A	chr12:67662423-67663669	HUVEC	blood vessel:	n/a	n/a
20	CUX1	chr12:67662373-67663352	GM12878	blood:	n/a	n/a
21	POLR2A	chr12:67661998-67664220	HEK293	kidney:	n/a	n/a
22	SP1	chr12:67662360-67663099	H1-hESC	embryonic stem cell:	n/a	chr12:67662941-67662948
23	MYC	chr12:67662491-67663354	K562	blood:	n/a	chr12:67663308-67663317 chr12:67663322-67663332
24	CEBPB	chr12:67662383-67663385	A549	lung:	n/a	chr12:67662593-67662601 chr12:67662621-67662629
25	EGR1	chr12:67662217-67663674	HCT-116	colon:	n/a	chr12:67663105-67663118 chr12:67663099-67663112 chr12:67663099-67663112 chr12:67662559-67662583 chr12:67663227-67663237 chr12:67663100-67663109 chr12:67662652-67662676 chr12:67663099-67663112 chr12:67663099-67663109 chr12:67663103-67663113 chr12:67663040-67663049
26	ZBTB33	chr12:67662607-67663200	K562	blood:	n/a	chr12:67662928-67662937 chr12:67663025-67663034 chr12:67662929-67662939
27	NR2F2	chr12:67662533-67663413	K562	blood:	n/a	chr12:67663061-67663076
28	POLR2A	chr12:67662132-67663597	HepG2	liver:	n/a	n/a
29	POLR2A	chr12:67662023-67664422	HepG2	liver:	n/a	n/a
30	RUNX3	chr12:67662120-67664332	GM12878	blood:	n/a	chr12:67662660-67662677 chr12:67662668-67662677 chr12:67662662-67662677 chr12:67662668-67662677
31	ZBTB33	chr12:67662265-67663577	A549	lung:	n/a	chr12:67662928-67662937 chr12:67663025-67663034 chr12:67662929-67662939
32	CEBPB	chr12:67662214-67663409	GM12878	blood:	n/a	chr12:67662593-67662601 chr12:67662621-67662629
33	SRF	chr12:67662810-67663073	HepG2	liver:	n/a	n/a
34	TCF7L2	chr12:67662524-67664343	HCT-116	colon:	n/a	n/a
35	SIX5	chr12:67662052-67663452	A549	lung:	n/a	chr12:67662669-67662678
36	BRCA1	chr12:67662121-67663447	Hela-S3	cervix:	n/a	chr12:67662928-67662937
37	FOXA1	chr12:67662498-67663211	T-47D	breast:	n/a	n/a
38	IRF1	chr12:67662082-67663629	K562	blood:	n/a	chr12:67663100-67663114 chr12:67662986-67662998 chr12:67662620-67662629
39	POU2F2	chr12:67662124-67663655	GM12891	blood:	n/a	n/a
40	USF1	chr12:67662439-67663559	ECC-1	luminal epithelium:	n/a	chr12:67662977-67662988
41	PML	chr12:67662384-67663386	GM12878	blood:	n/a	n/a
42	REST	chr12:67662616-67663581	HepG2	liver:	n/a	chr12:67663453-67663471
43	PML	chr12:67662490-67663639	K562	blood:	n/a	n/a
44	MAFK	chr12:67662137-67663629	K562	blood:	n/a	n/a
45	E2F6	chr12:67662288-67663763	H1-hESC	embryonic stem cell:	n/a	chr12:67663607-67663617 chr12:67662620-67662629 chr12:67663228-67663237 chr12:67663099-67663109 chr12:67663104-67663113
46	SP1	chr12:67662316-67663329	HepG2	liver:	n/a	chr12:67662941-67662948 chr12:67663103-67663112 chr12:67663102-67663114 chr12:67663104-67663113 chr12:67663103-67663113 chr12:67663102-67663114
47	MAX	chr12:67662136-67664330	NB4	blood:	n/a	chr12:67663308-67663317 chr12:67664044-67664053 chr12:67663322-67663332
48	EGR1	chr12:67662299-67663557	MCF-7	breast:	n/a	chr12:67663105-67663118 chr12:67663099-67663112 chr12:67663099-67663112 chr12:67662559-67662583 chr12:67663227-67663237 chr12:67663100-67663109 chr12:67662652-67662676 chr12:67663099-67663112 chr12:67663099-67663109 chr12:67663103-67663113 chr12:67663040-67663049
49	SIN3AK20	chr12:67662525-67663307	A549	lung:	n/a	n/a
50	POLR2A	chr12:67661686-67664424	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:67662897-67662947	ECC-1	luminal epithelium:	n/a
2	chr12:67662897-67662947	BE2_C	brain:	n/a
3	chr12:67662897-67662947	GM12878	blood:	n/a
4	chr12:67662897-67662947	A549	lung:	n/a
5	chr12:67662897-67662947	HPAEpiC	pulmonary alveolar:	n/a
6	chr12:67662897-67662947	PANC-1	pancreas:	n/a
7	chr12:67662897-67662947	GM19239	blood:	n/a
8	chr12:67662897-67662947	HUVEC	blood vessel:	n/a
9	chr12:67662897-67662947	LNCaP	prostate:	n/a
10	chr12:67662897-67662947	HCPEpiC	choroid plexus:	n/a
11	chr12:67662897-67662947	AG04450	lung:	fetal
12	chr12:67662897-67662947	K562	blood:	n/a
13	chr12:67662897-67662947	AG09319	gingival:	n/a
14	chr12:67662897-67662947	HCT-116	colon:	n/a
15	chr12:67662897-67662947	HAEpiC	amniotic membrane:	n/a
16	chr12:67662897-67662947	NT2-D1	testis:	n/a
17	chr12:67662897-67662947	GM12892	blood:	n/a
18	chr12:67662897-67662947	Jurkat	blood:	n/a
19	chr12:67662897-67662947	AG09309	skin:	n/a
20	chr12:67662897-67662947	BJ	skin:	n/a
21	chr12:67662897-67662947	HEK293	kidney:	embryo
22	chr12:67662897-67662947	Hela-S3	cervix:	n/a
23	chr12:67662897-67662947	HMEC	breast:	n/a
24	chr12:67662897-67662947	CMK	blood:	n/a
25	chr12:67662897-67662947	PFSK-1	brain:	n/a
26	chr12:67662897-67662947	H1-hESC	embryonic stem cell:	embryo
27	chr12:67662897-67662947	NB4	blood:	n/a
28	chr12:67662897-67662947	SK-N-SH_RA	brain:	n/a
29	chr12:67662897-67662947	U87	brain:	n/a
30	chr12:67662897-67662947	HNPCEpiC	eye:	n/a
31	chr12:67662897-67662947	RPTEC	kidney:	n/a
32	chr12:67662897-67662947	NHDF-neo	bronchial:	n/a
33	chr12:67662897-67662947	ovcar-3	ovarian:	n/a
34	chr12:67662897-67662947	HCM	heart:	n/a
35	chr12:67662897-67662947	GM12891	blood:	n/a
36	chr12:67662897-67662947	NHBE	bronchial:	n/a
37	chr12:67662897-67662947	MCF10A-Er-Src	breast:	n/a
38	chr12:67662897-67662947	Hepatocyte	liver:	n/a
39	chr12:67662897-67662947	GM06990	blood:	n/a
40	chr12:67662897-67662947	HRPEpiC	eye:	n/a
41	chr12:67662897-67662947	AoSMC	blood vessel:	n/a
42	chr12:67662897-67662947	HL-60	blood:	n/a
43	chr12:67662897-67662947	SK-N-MC	brain:	n/a
44	chr12:67662897-67662947	AG10803	skin:	n/a
45	chr12:67662897-67662947	HRCEpiC	kidney:	n/a
46	chr12:67662897-67662947	HIPEpiC	eye:	n/a
47	chr12:67662897-67662947	Caco-2	colon:	n/a
48	chr12:67662897-67662947	IMR90	lung:	fetal
49	chr12:67662897-67662947	HEEpiC	esophagus:	n/a
50	chr12:67662897-67662947	HepG2	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:67662842..67663417-chr16:89882588..89883442,2	Hela-S3	cervix:
2	chr12:67662422..67663227-chr19:17326001..17326636,2	Hela-S3	cervix:
3	chr12:67462768..67464522-chr12:67660868..67664362,4	MCF-7	breast:
4	chr12:67660830..67663060-chr12:67697055..67700742,3	K562	blood:
5	chr12:67662879..67663570-chr22:19973947..19974893,2	HCT-116	colon:
6	chr12:67662642..67663557-chr12:76953274..76954022,2	Hela-S3	cervix:
7	chr12:67662519..67663127-chr19:39881643..39882266,2	HCT-116	colon:
8	chr12:67460777..67464522-chr12:67661841..67665703,9	MCF-7	breast:
9	chr12:67662074..67662955-chr20:62313377..62314340,2	HCT-116	colon:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRIP1-8	chr12:67656109-67663060	NONHSAT029243

Variant related genes	Relation type
GGTA2P	TF binding region
CAND1	TF binding region
GGTA2P	CpG island
CAND1	CpG island
ENSG00000256248	Chromatin interaction
ENSG00000091039	Chromatin interaction
ENSG00000187741	Chromatin interaction
ENSG00000063322	Chromatin interaction
ENSG00000053501	Chromatin interaction
ENSG00000006712	Chromatin interaction
ENSG00000099889	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11176650	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11836317	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12300918	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17103634	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17103637	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17103644	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17103646	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17103688	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17103691	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17103725	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17184510	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17781591	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17781675	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17781844	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1827235	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3850600	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3850601	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59304254	0.82[EUR][1000 genomes]
rs733642	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs74100357	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74100358	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs74100359	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67661600-67663000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:67661600-67665000	Active TSS	K562	blood
3	chr12:67661600-67665200	Active TSS	GM12878-XiMat	blood
4	chr12:67661800-67664600	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr12:67661800-67664600	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr12:67661800-67664800	Active TSS	Aorta	Aorta
7	chr12:67661800-67664800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr12:67661800-67664800	Active TSS	Stomach Mucosa	stomach
9	chr12:67661800-67665000	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr12:67661800-67665000	Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr12:67661800-67665000	Active TSS	Brain Angular Gyrus	brain
12	chr12:67661800-67665000	Active TSS	Fetal Kidney	kidney
13	chr12:67661800-67665000	Active TSS	Right Atrium	heart
14	chr12:67661800-67665000	Active TSS	Thymus	Thymus
15	chr12:67661800-67665000	Active TSS	A549	lung
16	chr12:67661800-67665000	Active TSS	HSMM	muscle
17	chr12:67661800-67665200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:67661800-67665200	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr12:67661800-67665200	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr12:67661800-67665200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:67661800-67665200	Active TSS	Psoas Muscle	Psoas
22	chr12:67661800-67665400	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr12:67661800-67665400	Active TSS	H1 Cell Line	embryonic stem cell
24	chr12:67661800-67665400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:67661800-67665600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:67661800-67666000	Active TSS	NHLF	lung
27	chr12:67662000-67663000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr12:67662000-67663000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr12:67662000-67663000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:67662000-67663200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:67662000-67664200	Active TSS	Brain Cingulate Gyrus	brain
32	chr12:67662000-67664200	Active TSS	Brain Hippocampus Middle	brain
33	chr12:67662000-67664200	Active TSS	Brain Substantia Nigra	brain
34	chr12:67662000-67664400	Active TSS	Left Ventricle	heart
35	chr12:67662000-67664400	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr12:67662000-67664400	Active TSS	Small Intestine	intestine
37	chr12:67662000-67664600	Active TSS	Fetal Muscle Trunk	muscle
38	chr12:67662000-67664800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr12:67662000-67664800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:67662000-67665000	Active TSS	H9 Cell Line	embryonic stem cell
41	chr12:67662000-67665200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:67662000-67665200	Active TSS	Ovary	ovary
43	chr12:67662000-67665200	Active TSS	Right Ventricle	heart
44	chr12:67662000-67665400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:67662000-67665600	Active TSS	NHDF-Ad	bronchial
46	chr12:67662200-67663600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:67662200-67663600	Active TSS	Brain Germinal Matrix	brain
48	chr12:67662200-67664000	Active TSS	Fetal Brain Male	brain
49	chr12:67662200-67664200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:67662200-67664400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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