Variant report

Variant	rs73408862
Chromosome Location	chr12:123431881-123431882
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	FOSL2	chr12:123431224-123431891	SK-N-SH	brain:	n/a	chr12:123431554-123431562 chr12:123431553-123431564 chr12:123431555-123431562 chr12:123431554-123431562
2	MAX	chr12:123431299-123432233	HUVEC	blood vessel:	n/a	chr12:123432072-123432087 chr12:123432076-123432085 chr12:123431553-123431562 chr12:123432074-123432084 chr12:123431513-123431523
3	STAT3	chr12:123431299-123432054	MCF10A-Er-Src	breast:	n/a	chr12:123431457-123431465
4	POLR2A	chr12:123431231-123432115	HUVEC	blood vessel:	n/a	n/a
5	MAX	chr12:123430827-123432384	HCT-116	colon:	n/a	chr12:123432072-123432087 chr12:123432076-123432085 chr12:123431553-123431562 chr12:123431280-123431290 chr12:123432074-123432084 chr12:123431513-123431523
6	STAT3	chr12:123431007-123431884	MCF10A-Er-Src	breast:	n/a	chr12:123431457-123431465
7	SMARCB1	chr12:123431227-123432397	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr12:123431149-123431921	IMR90	lung:	n/a	chr12:123431294-123431307 chr12:123431295-123431306
9	JUND	chr12:123431170-123431949	SK-N-SH	brain:	n/a	chr12:123431554-123431562 chr12:123431555-123431562 chr12:123431552-123431563 chr12:123431554-123431562
10	ELF1	chr12:123431226-123432473	GM12878	blood:	n/a	n/a
11	MXI1	chr12:123431333-123431885	HepG2	liver:	n/a	n/a
12	CTCF	chr12:123431820-123431970	HepG2	liver:	n/a	n/a
13	STAT5A	chr12:123431162-123431894	GM12878	blood:	n/a	chr12:123431457-123431465
14	FOS	chr12:123431016-123431925	MCF10A-Er-Src	breast:	n/a	chr12:123431554-123431562 chr12:123431555-123431562 chr12:123431552-123431563 chr12:123431554-123431562
15	FOSL1	chr12:123431037-123432075	HCT-116	colon:	n/a	chr12:123431554-123431562 chr12:123431555-123431562 chr12:123431554-123431562
16	TFAP2C	chr12:123430971-123432235	Hela-S3	cervix:	n/a	n/a
17	FOS	chr12:123431010-123431884	MCF10A-Er-Src	breast:	n/a	chr12:123431554-123431562 chr12:123431555-123431562 chr12:123431552-123431563 chr12:123431554-123431562
18	FOS	chr12:123431010-123431882	MCF10A-Er-Src	breast:	n/a	chr12:123431554-123431562 chr12:123431555-123431562 chr12:123431552-123431563 chr12:123431554-123431562
19	POLR2A	chr12:123431281-123432075	K562	blood:	n/a	n/a
20	CCNT2	chr12:123431351-123431892	K562	blood:	n/a	chr12:123431779-123431788
21	CTCF	chr12:123431880-123432030	WERI-Rb-1	eye:	n/a	n/a
22	POLR2A	chr12:123431196-123432044	HUVEC	blood vessel:	n/a	n/a
23	CTCF	chr12:123431840-123431990	HCFaa	heart:	n/a	n/a
24	MXI1	chr12:123430796-123432437	IMR90	lung:	n/a	chr12:123432073-123432082 chr12:123432075-123432084
25	RCOR1	chr12:123430982-123432488	IMR90	lung:	n/a	n/a
26	JUN	chr12:123431001-123431882	K562	blood:	n/a	chr12:123431554-123431562 chr12:123431555-123431562 chr12:123431554-123431562
27	MAX	chr12:123431104-123431900	HCT-116	colon:	n/a	chr12:123431553-123431562 chr12:123431280-123431290 chr12:123431513-123431523
28	POLR2A	chr12:123431295-123431930	HUVEC	blood vessel:	n/a	n/a
29	FOSL1	chr12:123431226-123431940	HCT-116	colon:	n/a	chr12:123431554-123431562 chr12:123431555-123431562 chr12:123431554-123431562
30	STAT3	chr12:123431308-123431938	MCF10A-Er-Src	breast:	n/a	chr12:123431457-123431465
31	TCF12	chr12:123431156-123431969	SK-N-SH	brain:	n/a	n/a
32	MYC	chr12:123431021-123431920	MCF10A-Er-Src	breast:	n/a	chr12:123431553-123431562 chr12:123431280-123431290 chr12:123431513-123431523
33	RAD21	chr12:123431239-123431931	IMR90	lung:	n/a	chr12:123431750-123431764
34	MAZ	chr12:123431113-123432089	IMR90	lung:	n/a	chr12:123432072-123432087 chr12:123432076-123432085 chr12:123431553-123431562 chr12:123431280-123431290 chr12:123432074-123432084
35	CTCF	chr12:123431880-123432030	SAEC	small airway:	n/a	n/a
36	SMARCC1	chr12:123430644-123432120	Hela-S3	cervix:	n/a	n/a
37	MAX	chr12:123431145-123431914	A549	lung:	n/a	chr12:123431553-123431562 chr12:123431280-123431290 chr12:123431513-123431523
38	MTA3	chr12:123431318-123431972	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123431865-123431915	AG04449	skin:	fetal
2	chr12:123431865-123431915	NT2-D1	testis:	n/a
3	chr12:123431865-123431915	HAEpiC	amniotic membrane:	n/a
4	chr12:123431865-123431915	HIPEpiC	eye:	n/a
5	chr12:123431865-123431915	K562	blood:	n/a
6	chr12:123431865-123431915	A549	lung:	n/a
7	chr12:123431865-123431915	ProgFib	skin:	n/a
8	chr12:123431865-123431915	AG09319	gingival:	n/a
9	chr12:123431865-123431915	ECC-1	luminal epithelium:	n/a
10	chr12:123431865-123431915	Hepatocyte	liver:	n/a
11	chr12:123431865-123431915	HCM	heart:	n/a
12	chr12:123431865-123431915	HCPEpiC	choroid plexus:	n/a
13	chr12:123431865-123431915	NHBE	bronchial:	n/a
14	chr12:123431865-123431915	GM12892	blood:	n/a
15	chr12:123431865-123431915	PFSK-1	brain:	n/a
16	chr12:123431865-123431915	U87	brain:	n/a
17	chr12:123431865-123431915	Caco-2	colon:	n/a
18	chr12:123431865-123431915	MCF-7	breast:	n/a
19	chr12:123431865-123431915	HEEpiC	esophagus:	n/a
20	chr12:123431865-123431915	PrEC	prostate:	n/a
21	chr12:123431865-123431915	HPAEpiC	pulmonary alveolar:	n/a
22	chr12:123431865-123431915	SKMC	muscle:	n/a
23	chr12:123431865-123431915	Hela-S3	cervix:	n/a
24	chr12:123431865-123431915	AG09309	skin:	n/a
25	chr12:123431865-123431915	AG10803	skin:	n/a
26	chr12:123431865-123431915	LNCaP	prostate:	n/a
27	chr12:123431865-123431915	SAEC	small airway:	n/a
28	chr12:123431865-123431915	GM12891	blood:	n/a
29	chr12:123431865-123431915	HEK293	kidney:	embryo
30	chr12:123431865-123431915	GM19239	blood:	n/a
31	chr12:123431865-123431915	CMK	blood:	n/a
32	chr12:123431865-123431915	HRE	kidney:	n/a
33	chr12:123431865-123431915	HepG2	liver:	n/a
34	chr12:123431865-123431915	T-47D	breast:	n/a
35	chr12:123431865-123431915	RPTEC	kidney:	n/a
36	chr12:123431865-123431915	HL-60	blood:	n/a
37	chr12:123431865-123431915	H1-hESC	embryonic stem cell:	embryo
38	chr12:123431865-123431915	NHDF-neo	bronchial:	n/a
39	chr12:123431865-123431915	HCT-116	colon:	n/a
40	chr12:123431865-123431915	AG04450	lung:	fetal
41	chr12:123431865-123431915	BE2_C	brain:	n/a
42	chr12:123431865-123431915	HNPCEpiC	eye:	n/a
43	chr12:123431865-123431915	HRPEpiC	eye:	n/a
44	chr12:123431865-123431915	MCF10A-Er-Src	breast:	n/a
45	chr12:123431865-123431915	HUVEC	blood vessel:	n/a
46	chr12:123431865-123431915	IMR90	lung:	fetal
47	chr12:123431865-123431915	PANC-1	pancreas:	n/a
48	chr12:123431865-123431915	HCF	heart:	n/a
49	chr12:123431865-123431915	AoSMC	blood vessel:	n/a
50	chr12:123431865-123431915	SK-N-SH_RA	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:123428831..123432471-chr12:123448558..123452277,3	K562	blood:
2	chr12:123379526..123381919-chr12:123430934..123433003,2	MCF-7	breast:
3	chr12:123344900..123345435-chr12:123431652..123432233,2	K562	blood:

Variant related genes	Relation type
ABCB9	TF binding region
ABCB9	CpG island
ENSG00000139722	Chromatin interaction
ENSG00000150967	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10219462	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10846468	0.87[ASN][1000 genomes]
rs10846469	0.87[ASN][1000 genomes]
rs10846473	0.87[ASN][1000 genomes]
rs10848148	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10848363	0.87[ASN][1000 genomes]
rs10848365	0.87[ASN][1000 genomes]
rs10848429	0.87[ASN][1000 genomes]
rs11057172	0.87[ASN][1000 genomes]
rs11060888	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11060932	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11060997	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11060999	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11061166	0.87[ASN][1000 genomes]
rs11061601	0.87[ASN][1000 genomes]
rs11061611	0.87[ASN][1000 genomes]
rs11061616	0.87[ASN][1000 genomes]
rs12229119	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12229884	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12298355	0.87[ASN][1000 genomes]
rs12306711	0.87[ASN][1000 genomes]
rs12311043	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311134	0.87[ASN][1000 genomes]
rs12318594	0.87[ASN][1000 genomes]
rs12366787	0.87[ASN][1000 genomes]
rs34010146	0.88[AFR][1000 genomes]
rs55646110	0.80[AFR][1000 genomes]
rs55813219	0.83[AFR][1000 genomes]
rs55951195	0.83[AFR][1000 genomes]
rs56150478	0.81[AFR][1000 genomes]
rs56288804	0.85[AFR][1000 genomes]
rs57310784	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57863319	0.83[AFR][1000 genomes]
rs58025094	0.88[AFR][1000 genomes]
rs58462666	0.83[AFR][1000 genomes]
rs59002329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59081274	0.89[AFR][1000 genomes]
rs59211448	0.83[AFR][1000 genomes]
rs59379557	0.85[AFR][1000 genomes]
rs59526938	0.96[AFR][1000 genomes]
rs60888713	0.83[AFR][1000 genomes]
rs60987910	0.85[AFR][1000 genomes]
rs61061591	0.83[AFR][1000 genomes]
rs61546241	0.85[AFR][1000 genomes]
rs61592192	0.85[AFR][1000 genomes]
rs61677786	0.85[AFR][1000 genomes]
rs7295258	0.85[AFR][1000 genomes]
rs73408832	0.83[AFR][1000 genomes]
rs73408835	0.96[AFR][1000 genomes]
rs73408859	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408890	0.91[AFR][1000 genomes]
rs73408892	0.91[AFR][1000 genomes]
rs73408893	0.89[AFR][1000 genomes]
rs73408894	0.91[AFR][1000 genomes]
rs73408899	0.88[AFR][1000 genomes]
rs73411006	0.83[AFR][1000 genomes]
rs73411009	0.83[AFR][1000 genomes]
rs73411011	0.83[AFR][1000 genomes]
rs73411015	0.83[AFR][1000 genomes]
rs73411018	0.83[AFR][1000 genomes]
rs73411027	0.85[AFR][1000 genomes]
rs73411033	0.85[AFR][1000 genomes]
rs73411041	0.85[AFR][1000 genomes]
rs73411043	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
6	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
9	nsv560491	chr12:123425575-123444422	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123403000-123444200	Weak transcription	Aorta	Aorta
2	chr12:123412800-123449200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:123413400-123449600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:123413600-123450000	Weak transcription	Primary T cells from cord blood	blood
5	chr12:123414000-123432400	Weak transcription	Fetal Kidney	kidney
6	chr12:123417400-123441800	Weak transcription	Ovary	ovary
7	chr12:123417600-123446200	Weak transcription	Fetal Lung	lung
8	chr12:123425600-123432400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr12:123425600-123432600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:123426600-123432200	Enhancers	Right Atrium	heart
11	chr12:123427200-123432400	Enhancers	Fetal Muscle Leg	muscle
12	chr12:123427200-123432600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:123427200-123432600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:123427200-123432600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr12:123427200-123433200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:123427200-123433200	Enhancers	Stomach Mucosa	stomach
17	chr12:123427400-123432600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr12:123427800-123432600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:123428600-123432600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr12:123428800-123432400	Enhancers	A549	lung
21	chr12:123428800-123432400	Enhancers	HSMM	muscle
22	chr12:123428800-123432400	Enhancers	NHDF-Ad	bronchial
23	chr12:123428800-123432600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:123428800-123432600	Enhancers	Esophagus	oesophagus
25	chr12:123428800-123432600	Enhancers	Lung	lung
26	chr12:123428800-123433800	Enhancers	Placenta	Placenta
27	chr12:123429000-123432200	Enhancers	HSMMtube	muscle
28	chr12:123429000-123432400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:123429400-123432800	Enhancers	HMEC	breast
30	chr12:123429600-123444000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:123429800-123433400	Weak transcription	Brain Germinal Matrix	brain
32	chr12:123429800-123435600	Strong transcription	Fetal Brain Female	brain
33	chr12:123429800-123436400	Strong transcription	Fetal Stomach	stomach
34	chr12:123429800-123444000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:123430000-123432400	Enhancers	Brain Hippocampus Middle	brain
36	chr12:123430000-123432400	Enhancers	Brain Substantia Nigra	brain
37	chr12:123430000-123432400	Enhancers	Gastric	stomach
38	chr12:123430000-123441800	Weak transcription	Fetal Brain Male	brain
39	chr12:123430400-123432400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:123430400-123434000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:123430600-123432000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:123430600-123432200	Genic enhancers	Fetal Intestine Small	intestine
43	chr12:123430600-123432200	Enhancers	K562	blood
44	chr12:123430600-123432400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:123430600-123432400	Enhancers	NH-A	brain
46	chr12:123430600-123432400	Enhancers	Osteobl	bone
47	chr12:123430600-123432600	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr12:123430600-123432600	Enhancers	GM12878-XiMat	blood
49	chr12:123430600-123432600	Enhancers	HUVEC	blood vessel
50	chr12:123430600-123433200	Enhancers	Primary monocytes fromperipheralblood	blood

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