Variant report

Variant	rs73408863
Chromosome Location	chr12:123432441-123432442
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	CTCF	chr12:123432320-123432470	GM12873	blood:	n/a	n/a
2	ELF1	chr12:123431226-123432473	GM12878	blood:	n/a	n/a
3	RCOR1	chr12:123430982-123432488	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:123428831..123432471-chr12:123448558..123452277,3	K562	blood:
2	chr12:123318920..123320804-chr12:123431971..123434703,2	MCF-7	breast:
3	chr12:123379526..123381919-chr12:123430934..123433003,2	MCF-7	breast:

Variant related genes	Relation type
ABCB9	TF binding region
ENSG00000150967	Chromatin interaction
ENSG00000130787	Chromatin interaction
ENSG00000139722	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]
rs73408862	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:100 , 50 per page) page: 1 2

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	chr12:123417400-123441800	Weak transcription	Ovary	ovary
6	chr12:123417600-123446200	Weak transcription	Fetal Lung	lung
7	chr12:123425600-123432600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:123427200-123432600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:123427200-123432600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:123427200-123432600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr12:123427200-123433200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:123427200-123433200	Enhancers	Stomach Mucosa	stomach
13	chr12:123427400-123432600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:123427800-123432600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:123428600-123432600	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr12:123428800-123432600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:123428800-123432600	Enhancers	Esophagus	oesophagus
18	chr12:123428800-123432600	Enhancers	Lung	lung
19	chr12:123428800-123433800	Enhancers	Placenta	Placenta
20	chr12:123429400-123432800	Enhancers	HMEC	breast
21	chr12:123429600-123444000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:123429800-123433400	Weak transcription	Brain Germinal Matrix	brain
23	chr12:123429800-123435600	Strong transcription	Fetal Brain Female	brain
24	chr12:123429800-123436400	Strong transcription	Fetal Stomach	stomach
25	chr12:123429800-123444000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:123430000-123441800	Weak transcription	Fetal Brain Male	brain
27	chr12:123430400-123434000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:123430600-123432600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr12:123430600-123432600	Enhancers	GM12878-XiMat	blood
30	chr12:123430600-123432600	Enhancers	HUVEC	blood vessel
31	chr12:123430600-123433200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr12:123430800-123433000	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr12:123430800-123433200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:123431200-123432600	Enhancers	Primary B cells from peripheral blood	blood
35	chr12:123431200-123432600	Enhancers	Primary hematopoietic stem cells	blood
36	chr12:123431200-123433200	Enhancers	Primary T cells fromperipheralblood	blood
37	chr12:123431400-123432600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr12:123431400-123432600	Genic enhancers	Brain Inferior Temporal Lobe	brain
39	chr12:123431600-123432600	Enhancers	Spleen	Spleen
40	chr12:123431600-123435000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr12:123431800-123432600	Enhancers	NHEK	skin
42	chr12:123431800-123432800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:123431800-123439600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:123432000-123434200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:123432000-123436000	Weak transcription	HepG2	liver
46	chr12:123432000-123439800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:123432000-123444000	Weak transcription	Thymus	Thymus
48	chr12:123432200-123432600	Enhancers	Adipose Nuclei	Adipose
49	chr12:123432200-123432800	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr12:123432200-123433000	Enhancers	Hela-S3	cervix

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