Variant report

Variant	rs73408890
Chromosome Location	chr12:123453983-123453984
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	CEBPB	chr12:123453863-123453989	K562	blood:	n/a	n/a
2	CEBPB	chr12:123453813-123454009	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123452570..123455545-chr12:123485965..123487801,2	K562	blood:
2	chr12:123452751..123454277-chr12:123718785..123720840,2	MCF-7	breast:

Variant related genes	Relation type
ABCB9	TF binding region

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10219462	0.94[AFR][1000 genomes]
rs11060932	0.93[AFR][1000 genomes]
rs11060997	0.94[AFR][1000 genomes]
rs11060999	0.94[AFR][1000 genomes]
rs11061578	0.81[AFR][1000 genomes]
rs12229884	0.94[AFR][1000 genomes]
rs12311043	0.94[AFR][1000 genomes]
rs34010146	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55646110	1.00[AMR][1000 genomes]
rs55796417	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs55813219	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55830208	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs55939945	1.00[AMR][1000 genomes]
rs55951195	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56020503	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56150478	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56288804	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56725866	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57106451	0.81[AFR][1000 genomes]
rs57110420	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57258703	1.00[AMR][1000 genomes]
rs57310784	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57641050	0.81[AFR][1000 genomes]
rs57764857	0.81[AFR][1000 genomes]
rs57794792	0.81[AFR][1000 genomes]
rs57863319	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58025094	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58462666	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59002329	0.91[AFR][1000 genomes]
rs59081274	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59211448	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59379557	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59526938	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60341839	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60358140	0.81[AFR][1000 genomes]
rs60739634	1.00[AMR][1000 genomes]
rs60809882	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60888713	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60920158	0.85[AMR][1000 genomes]
rs60987910	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61061591	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61377358	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61516893	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61546241	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61592192	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61677786	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7295258	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73406966	0.85[AMR][1000 genomes]
rs73406997	0.85[AMR][1000 genomes]
rs73408803	0.85[AMR][1000 genomes]
rs73408810	0.85[AMR][1000 genomes]
rs73408812	0.85[AMR][1000 genomes]
rs73408818	1.00[AMR][1000 genomes]
rs73408820	1.00[AMR][1000 genomes]
rs73408832	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408835	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408838	0.85[AMR][1000 genomes]
rs73408846	0.85[AMR][1000 genomes]
rs73408859	0.81[AFR][1000 genomes]
rs73408862	0.91[AFR][1000 genomes]
rs73408863	0.91[AFR][1000 genomes]
rs73408887	0.85[AMR][1000 genomes]
rs73408892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408893	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73408899	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411006	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411009	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411011	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411014	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411015	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411017	0.85[AMR][1000 genomes]
rs73411018	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411027	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73411033	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73411041	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73411043	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73411057	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73411058	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73411063	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73411076	0.81[AFR][1000 genomes]
rs752164	0.81[AFR][1000 genomes];0.85[AMR][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	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
10	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
11	nsv899577	chr12:123435248-123484474	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123451000-123454000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:123451000-123454000	Weak transcription	Fetal Lung	lung
3	chr12:123451000-123455800	Enhancers	Fetal Brain Male	brain
4	chr12:123451000-123458600	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:123451400-123454000	Weak transcription	Fetal Heart	heart
6	chr12:123451400-123454200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:123451400-123457600	Weak transcription	Dnd41	blood
8	chr12:123451400-123458200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr12:123451400-123458400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:123451400-123458400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:123451400-123458400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:123451400-123458400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:123451400-123458400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:123451400-123458400	Weak transcription	Brain Anterior Caudate	brain
15	chr12:123451400-123458400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:123451400-123458400	Weak transcription	Brain Germinal Matrix	brain
17	chr12:123451400-123458400	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:123451400-123458600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:123451400-123458600	Weak transcription	Right Atrium	heart
20	chr12:123451400-123458600	Weak transcription	Thymus	Thymus
21	chr12:123451600-123454000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:123451600-123455600	Enhancers	Fetal Brain Female	brain
23	chr12:123451600-123457600	Weak transcription	Liver	Liver
24	chr12:123451600-123458200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr12:123451600-123458400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:123451600-123458400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr12:123451600-123458400	Weak transcription	Adipose Nuclei	Adipose
28	chr12:123451600-123458400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:123451600-123458400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr12:123451600-123458600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr12:123451600-123458600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:123451600-123458600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr12:123451600-123458600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr12:123451600-123458800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:123451800-123454000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr12:123451800-123454200	Weak transcription	Fetal Intestine Large	intestine
37	chr12:123451800-123455200	Weak transcription	Fetal Intestine Small	intestine
38	chr12:123451800-123457600	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr12:123451800-123457600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:123451800-123458400	Weak transcription	A549	lung
41	chr12:123451800-123458400	Weak transcription	K562	blood
42	chr12:123451800-123458600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:123451800-123458600	Weak transcription	Stomach Mucosa	stomach
44	chr12:123452000-123454600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr12:123452000-123458400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:123452000-123458400	Weak transcription	Brain Angular Gyrus	brain
47	chr12:123452400-123454600	Weak transcription	Colonic Mucosa	Colon
48	chr12:123452400-123458400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr12:123452800-123454800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:123453200-123454000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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