Variant report

Variant	rs73406977
Chromosome Location	chr12:123376634-123376635
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	MAX	chr12:123376285-123377083	NB4	blood:	n/a	chr12:123376471-123376480
2	RCOR1	chr12:123376336-123376973	Hela-S3	cervix:	n/a	n/a
3	FOS	chr12:123376167-123377007	MCF10A-Er-Src	breast:	n/a	chr12:123376523-123376532 chr12:123376313-123376324
4	PRDM1	chr12:123376356-123376826	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr12:123376392-123376972	IMR90	lung:	n/a	chr12:123376774-123376787 chr12:123376776-123376787
6	TFAP2A	chr12:123376354-123377102	Hela-S3	cervix:	n/a	chr12:123376992-123377006 chr12:123376994-123377004 chr12:123376994-123377004 chr12:123376994-123377004 chr12:123376992-123377006 chr12:123376992-123377007 chr12:123376992-123377006
7	SPI1	chr12:123376348-123377055	HL-60	blood:	n/a	chr12:123376793-123376806 chr12:123377033-123377046
8	NFYB	chr12:123376361-123376816	Hela-S3	cervix:	n/a	chr12:123376519-123376534 chr12:123376516-123376531 chr12:123376521-123376531 chr12:123376518-123376530 chr12:123376521-123376531 chr12:123376519-123376532 chr12:123376519-123376534 chr12:123376519-123376533
9	STAT3	chr12:123376498-123377166	MCF10A-Er-Src	breast:	n/a	n/a
10	CEBPB	chr12:123376403-123376857	H1-hESC	embryonic stem cell:	n/a	chr12:123376774-123376787 chr12:123376776-123376787
11	CEBPB	chr12:123376310-123376966	A549	lung:	n/a	chr12:123376774-123376787 chr12:123376776-123376787
12	RFX5	chr12:123376158-123377022	Hela-S3	cervix:	n/a	chr12:123376522-123376531
13	SP1	chr12:123376150-123376715	A549	lung:	n/a	n/a
14	SRF	chr12:123376492-123376704	HepG2	liver:	n/a	chr12:123376597-123376614 chr12:123376599-123376613 chr12:123376600-123376618 chr12:123376602-123376615 chr12:123376599-123376617
15	MXI1	chr12:123376210-123376734	Hela-S3	cervix:	n/a	n/a
16	MAFK	chr12:123375948-123376857	Hela-S3	cervix:	n/a	chr12:123376434-123376445 chr12:123376433-123376444 chr12:123376433-123376444 chr12:123376525-123376539 chr12:123376434-123376445 chr12:123376526-123376537
17	SRF	chr12:123376487-123376675	K562	blood:	n/a	chr12:123376597-123376614 chr12:123376599-123376613 chr12:123376600-123376618 chr12:123376602-123376615 chr12:123376599-123376617
18	CEBPB	chr12:123376372-123376854	K562	blood:	n/a	chr12:123376774-123376787 chr12:123376776-123376787
19	MYC	chr12:123376210-123377024	NB4	blood:	n/a	chr12:123376471-123376480
20	CEBPB	chr12:123376414-123376969	A549	lung:	n/a	chr12:123376774-123376787 chr12:123376776-123376787
21	TFAP2C	chr12:123376253-123377057	Hela-S3	cervix:	n/a	n/a
22	MYC	chr12:123376149-123377123	MCF10A-Er-Src	breast:	n/a	chr12:123376471-123376480
23	EP300	chr12:123376315-123376982	Hela-S3	cervix:	n/a	chr12:123376795-123376809 chr12:123376803-123376817
24	SMARCC1	chr12:123375881-123377198	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr12:123376239-123377069	MCF10A-Er-Src	breast:	n/a	n/a
26	SRF	chr12:123376370-123376828	H1-hESC	embryonic stem cell:	n/a	chr12:123376597-123376614 chr12:123376599-123376613 chr12:123376600-123376618 chr12:123376602-123376615 chr12:123376599-123376617
27	CEBPB	chr12:123376501-123376647	K562	blood:	n/a	n/a
28	SRF	chr12:123376313-123376818	ECC-1	luminal epithelium:	n/a	chr12:123376597-123376614 chr12:123376599-123376613 chr12:123376600-123376618 chr12:123376602-123376615 chr12:123376599-123376617
29	EBF1	chr12:123376517-123377017	GM12878	blood:	n/a	n/a
30	FOS	chr12:123376132-123377135	MCF10A-Er-Src	breast:	n/a	chr12:123376523-123376532 chr12:123376313-123376324
31	CEBPB	chr12:123376210-123376997	Hela-S3	cervix:	n/a	chr12:123376774-123376787 chr12:123376776-123376787
32	MAZ	chr12:123376416-123376701	Hela-S3	cervix:	n/a	chr12:123376471-123376480
33	POLR2A	chr12:123376588-123377134	SK-N-MC	brain:	n/a	n/a
34	MAX	chr12:123376208-123376966	Hela-S3	cervix:	n/a	chr12:123376471-123376480
35	NFYA	chr12:123376348-123376796	Hela-S3	cervix:	n/a	chr12:123376519-123376534 chr12:123376521-123376531 chr12:123376518-123376530 chr12:123376521-123376531 chr12:123376519-123376532 chr12:123376519-123376534 chr12:123376519-123376533
36	E2F4	chr12:123376632-123376875	MCF10A-Er-Src	breast:	n/a	n/a
37	MYC	chr12:123376115-123377113	MCF10A-Er-Src	breast:	n/a	chr12:123376471-123376480
38	STAT3	chr12:123376054-123377131	MCF10A-Er-Src	breast:	n/a	n/a
39	CEBPB	chr12:123376424-123376905	K562	blood:	n/a	chr12:123376774-123376787 chr12:123376776-123376787
40	SRF	chr12:123376487-123376686	HepG2	liver:	n/a	chr12:123376597-123376614 chr12:123376599-123376613 chr12:123376600-123376618 chr12:123376602-123376615 chr12:123376599-123376617
41	FOS	chr12:123376160-123377142	MCF10A-Er-Src	breast:	n/a	chr12:123376523-123376532 chr12:123376313-123376324
42	SMC3	chr12:123376483-123376819	Hela-S3	cervix:	n/a	n/a
43	SP1	chr12:123376152-123376727	H1-hESC	embryonic stem cell:	n/a	n/a
44	KAP1	chr12:123376416-123376690	HEK293	kidney:	n/a	n/a
45	IKZF1	chr12:123376457-123377117	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:123317720..123322313-chr12:123372173..123377754,7	MCF-7	breast:
2	chr12:123358923..123360581-chr12:123375537..123377864,2	MCF-7	breast:
3	chr12:123374002..123376738-chr12:123462505..123465359,2	MCF-7	breast:
4	chr12:123362099..123364653-chr12:123375458..123377701,2	K562	blood:
5	chr12:123343167..123345079-chr12:123376349..123378623,2	MCF-7	breast:

Variant related genes	Relation type
VPS37B	TF binding region
ENSG00000182196	Chromatin interaction
ENSG00000130787	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34647278	1.00[AMR][1000 genomes]
rs35245907	1.00[AMR][1000 genomes]
rs56718360	1.00[AFR][1000 genomes]
rs57023093	1.00[AMR][1000 genomes]
rs58901651	1.00[AMR][1000 genomes]
rs59065210	1.00[AMR][1000 genomes]
rs60009235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60448869	1.00[AMR][1000 genomes]
rs60589503	1.00[AMR][1000 genomes]
rs61520028	1.00[AMR][1000 genomes]
rs73406914	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406940	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406973	1.00[AMR][1000 genomes]
rs73415564	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73421628	1.00[AMR][1000 genomes]
rs73421644	1.00[AMR][1000 genomes]
rs73421649	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73421661	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 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	chr12:123366200-123379800	Weak transcription	Ovary	ovary
2	chr12:123370400-123379400	Enhancers	Small Intestine	intestine
3	chr12:123370600-123377400	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr12:123370600-123377600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr12:123370800-123378000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:123371600-123380000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr12:123371800-123378400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr12:123372200-123378400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:123373200-123377800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:123373200-123377800	Enhancers	Fetal Heart	heart
11	chr12:123373200-123378600	Enhancers	Liver	Liver
12	chr12:123373400-123377600	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr12:123373400-123378800	Enhancers	Fetal Muscle Leg	muscle
14	chr12:123373400-123379000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr12:123373600-123378800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:123373800-123376800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:123373800-123377200	Enhancers	Primary T cells from cord blood	blood
18	chr12:123373800-123378600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr12:123373800-123378600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr12:123373800-123378600	Enhancers	HUVEC	blood vessel
21	chr12:123373800-123378800	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr12:123373800-123378800	Enhancers	Fetal Thymus	thymus
23	chr12:123373800-123379000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr12:123373800-123379000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr12:123373800-123379200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:123373800-123379200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr12:123373800-123379600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:123374000-123377200	Enhancers	Dnd41	blood
29	chr12:123374000-123377400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:123374000-123379000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr12:123374600-123377400	Weak transcription	Pancreas	Pancrea
32	chr12:123374600-123377800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:123374600-123379000	Weak transcription	Gastric	stomach
34	chr12:123375000-123376800	Enhancers	Fetal Lung	lung
35	chr12:123375000-123377200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:123375000-123377200	Enhancers	Fetal Intestine Small	intestine
37	chr12:123375000-123377200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr12:123375000-123378600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:123375000-123379200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:123375200-123377200	Weak transcription	Lung	lung
41	chr12:123375200-123378800	Enhancers	Fetal Intestine Large	intestine
42	chr12:123375400-123377000	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr12:123375400-123377000	Flanking Active TSS	A549	lung
44	chr12:123375400-123377200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr12:123375400-123377200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:123375400-123377200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr12:123375400-123377200	Flanking Active TSS	HMEC	breast
48	chr12:123375400-123377400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:123375400-123377400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr12:123375400-123378000	Enhancers	Pancreatic Islets	Pancreatic Islet

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