Variant report

Variant	rs527711081
Chromosome Location	chr12:49662598-49662599
allele	A/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	POLR2A	chr12:49662113-49664599	U87	brain:	n/a	n/a
2	MAFK	chr12:49662305-49662870	IMR90	lung:	n/a	chr12:49662503-49662514 chr12:49662494-49662514
3	GATA3	chr12:49662488-49662978	MCF-7	breast:	n/a	n/a
4	POLR2A	chr12:49662475-49662762	GM12878	blood:	n/a	n/a
5	ARID3A	chr12:49662526-49662726	K562	blood:	n/a	n/a
6	GATA3	chr12:49662283-49663164	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr12:49662148-49662887	U87	brain:	n/a	n/a
8	POLR2A	chr12:49662286-49666070	K562	blood:	n/a	n/a
9	MYC	chr12:49662375-49662771	MCF10A-Er-Src	breast:	n/a	chr12:49662518-49662527 chr12:49662519-49662528
10	EP300	chr12:49662366-49662792	K562	blood:	n/a	chr12:49662518-49662527
11	POLR2A	chr12:49658351-49664605	U87	brain:	n/a	n/a
12	NFIC	chr12:49662359-49662828	GM12878	blood:	n/a	n/a
13	CEBPB	chr12:49662479-49662766	K562	blood:	n/a	n/a
14	MYC	chr12:49662354-49662793	MCF10A-Er-Src	breast:	n/a	chr12:49662518-49662527 chr12:49662519-49662528
15	CEBPB	chr12:49662421-49662845	IMR90	lung:	n/a	n/a
16	KAP1	chr12:49662418-49662767	U2OS	brain:	n/a	n/a
17	GATA3	chr12:49662186-49663076	A549	lung:	n/a	n/a
18	MAFK	chr12:49662379-49662659	HepG2	liver:	n/a	chr12:49662503-49662514 chr12:49662494-49662514
19	USF2	chr12:49662358-49662751	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr12:49658001-49664653	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr12:49657862-49669371	K562	blood:	n/a	n/a
22	CEBPB	chr12:49662384-49662920	MCF-7	breast:	n/a	n/a
23	CEBPB	chr12:49662396-49662838	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr12:49662497-49662899	HepG2	liver:	n/a	n/a
25	FOSL2	chr12:49662185-49662926	A549	lung:	n/a	chr12:49662512-49662524 chr12:49662520-49662527 chr12:49662519-49662527
26	GATA3	chr12:49662585-49662862	MCF-7	breast:	n/a	n/a
27	ATF1	chr12:49662361-49662676	K562	blood:	n/a	n/a
28	POLR2A	chr12:49662319-49662821	HepG2	liver:	n/a	n/a
29	MAFK	chr12:49662371-49662649	H1-hESC	embryonic stem cell:	n/a	chr12:49662503-49662514 chr12:49662494-49662514
30	JUN	chr12:49662350-49662787	HUVEC	blood vessel:	n/a	chr12:49662512-49662524 chr12:49662520-49662527 chr12:49662519-49662527
31	RCOR1	chr12:49662417-49662778	K562	blood:	n/a	n/a
32	RCOR1	chr12:49662569-49662639	K562	blood:	n/a	n/a
33	POLR2A	chr12:49662170-49662853	HUVEC	blood vessel:	n/a	n/a
34	CEBPB	chr12:49662381-49662836	Hela-S3	cervix:	n/a	n/a
35	E2F4	chr12:49662395-49662741	MCF10A-Er-Src	breast:	n/a	n/a
36	TAF1	chr12:49662413-49662731	Hela-S3	cervix:	n/a	n/a
37	MAX	chr12:49662427-49662831	SK-N-SH	brain:	n/a	chr12:49662518-49662527 chr12:49662519-49662528
38	JUND	chr12:49662430-49662744	HepG2	liver:	n/a	chr12:49662645-49662656 chr12:49662512-49662524 chr12:49662520-49662527 chr12:49662519-49662527
39	MAFF	chr12:49662387-49662696	HepG2	liver:	n/a	chr12:49662498-49662516
40	TCF7L2	chr12:49662472-49662723	Hela-S3	cervix:	n/a	n/a
41	TBL1XR1	chr12:49662318-49662801	K562	blood:	n/a	n/a
42	POLR2A	chr12:49662421-49662926	HepG2	liver:	n/a	n/a
43	POLR2A	chr12:49662374-49662743	MCF10A-Er-Src	breast:	n/a	n/a
44	BACH1	chr12:49662359-49662673	H1-hESC	embryonic stem cell:	n/a	chr12:49662516-49662530
45	MAX	chr12:49662291-49662825	A549	lung:	n/a	chr12:49662518-49662527 chr12:49662519-49662528
46	PBX3	chr12:49662276-49662971	SK-N-SH	brain:	n/a	n/a
47	JUND	chr12:49662334-49662822	A549	lung:	n/a	chr12:49662645-49662656 chr12:49662512-49662524 chr12:49662520-49662527 chr12:49662519-49662527
48	RCOR1	chr12:49662421-49662803	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr12:49662180-49662864	HUVEC	blood vessel:	n/a	n/a
50	FOS	chr12:49662316-49663348	MCF10A-Er-Src	breast:	n/a	chr12:49662512-49662524 chr12:49662520-49662527 chr12:49662519-49662527

No.	Distal block	Cell Line	Cell type
1	chr12:49656742..49663815-chr12:49736558..49745017,19	MCF-7	breast:
2	chr12:49523107..49527860-chr12:49656151..49664210,14	MCF-7	breast:
3	chr12:49519590..49527322-chr12:49655772..49662610,57	K562	blood:
4	chr12:49533073..49535795-chr12:49661700..49663392,2	K562	blood:
5	chr12:49448896..49462070-chr12:49656751..49663992,28	K562	blood:
6	chr12:49661105..49664061-chr17:56709024..56710621,2	MCF-7	breast:
7	chr12:49519914..49528393-chr12:49656527..49662615,75	K562	blood:
8	chr12:49628076..49629914-chr12:49660607..49662737,2	MCF-7	breast:
9	chr12:49449335..49458365-chr12:49656751..49666981,25	K562	blood:
10	chr12:49660927..49665723-chr12:49685096..49688729,4	MCF-7	breast:
11	chr12:49656722..49663896-chr12:49682381..49687774,8	K562	blood:
12	chr12:49657571..49662873-chr12:49757027..49762131,10	K562	blood:
13	chr12:49656956..49663896-chr12:49681239..49693031,16	K562	blood:
14	chr12:49500184..49504763-chr12:49658087..49663330,8	K562	blood:
15	chr12:49656941..49662685-chr12:49687034..49693573,13	MCF-7	breast:
16	chr12:49483859..49489908-chr12:49657302..49662649,9	K562	blood:

Variant related genes	Relation type
TUBA1C	TF binding region
ENSG00000258101	TF binding region
ENSG00000258017	Chromatin interaction
ENSG00000139636	Chromatin interaction
ENSG00000257346	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000178401	Chromatin interaction
ENSG00000139549	Chromatin interaction
ENSG00000167548	Chromatin interaction
ENSG00000200309	Chromatin interaction
ENSG00000123416	Chromatin interaction
ENSG00000135406	Chromatin interaction
ENSG00000123352	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
5	nsv976611	chr12:49662416-49664269	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49659000-49663200	Transcr. at gene 5' and 3'	A549	lung
2	chr12:49659200-49673600	Weak transcription	Fetal Brain Male	brain
3	chr12:49659400-49664200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:49659600-49663200	Weak transcription	Fetal Brain Female	brain
5	chr12:49659600-49663400	Weak transcription	Ovary	ovary
6	chr12:49659600-49663800	Weak transcription	Brain Germinal Matrix	brain
7	chr12:49659600-49664800	Weak transcription	Fetal Lung	lung
8	chr12:49659600-49668600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:49659600-49669600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:49659600-49673600	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:49659800-49662600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:49659800-49662600	Weak transcription	Fetal Kidney	kidney
13	chr12:49659800-49663000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:49659800-49663200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:49659800-49663600	Weak transcription	Primary B cells from cord blood	blood
16	chr12:49659800-49663600	Weak transcription	Aorta	Aorta
17	chr12:49659800-49663600	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:49659800-49663800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:49659800-49668600	Weak transcription	Right Atrium	heart
20	chr12:49660000-49662600	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:49660000-49663000	Enhancers	Adipose Nuclei	Adipose
22	chr12:49660000-49663200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:49660200-49663200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr12:49660200-49664000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:49660400-49662800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:49660400-49662800	Transcr. at gene 5' and 3'	K562	blood
27	chr12:49660400-49663000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr12:49660400-49663200	Transcr. at gene 5' and 3'	NHEK	skin
29	chr12:49660400-49663600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr12:49660600-49662800	Transcr. at gene 5' and 3'	NH-A	brain
31	chr12:49660600-49663000	Transcr. at gene 5' and 3'	HUVEC	blood vessel
32	chr12:49660600-49663400	Transcr. at gene 5' and 3'	Hela-S3	cervix
33	chr12:49660600-49663600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr12:49660800-49662600	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr12:49660800-49662800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr12:49661000-49663000	Enhancers	Fetal Intestine Large	intestine
37	chr12:49661000-49663000	Genic enhancers	Fetal Intestine Small	intestine
38	chr12:49661000-49663000	Enhancers	Placenta	Placenta
39	chr12:49661000-49663400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr12:49661000-49663400	Weak transcription	Spleen	Spleen
41	chr12:49661000-49663600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr12:49661000-49663600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr12:49661000-49663600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr12:49661000-49663800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr12:49661000-49668000	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr12:49661000-49669800	Strong transcription	Fetal Stomach	stomach
47	chr12:49661200-49663000	Weak transcription	Thymus	Thymus
48	chr12:49661200-49664000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr12:49661400-49663200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:49661400-49663400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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