Variant report

Variant	rs10744434
Chromosome Location	chr12:123368419-123368420
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123349944..123351476-chr12:123367250..123369233,2	K562	blood:
2	chr12:123357674..123359965-chr12:123366472..123369443,2	MCF-7	breast:
3	chr12:123365783..123368770-chr12:123465841..123468621,2	K562	blood:
4	chr12:123364142..123368499-chr12:123374436..123379970,6	K562	blood:
5	chr12:123356529..123360323-chr12:123367921..123371522,3	K562	blood:

Variant related genes	Relation type
ENSG00000150967	Chromatin interaction
ENSG00000139722	Chromatin interaction
ENSG00000182196	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10744422	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10773627	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10773657	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10847826	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10847869	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12255	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12298151	0.83[ASN][1000 genomes]
rs12313006	0.84[ASN][1000 genomes]
rs12426809	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1532835	0.91[EUR][1000 genomes]
rs1587856	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2061098	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2061101	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2135014	0.91[EUR][1000 genomes]
rs2271049	0.83[ASN][1000 genomes]
rs2271051	0.85[ASN][1000 genomes]
rs2292132	0.89[EUR][1000 genomes]
rs2292134	0.91[EUR][1000 genomes]
rs2292135	0.91[EUR][1000 genomes]
rs2292136	0.89[ASN][1000 genomes]
rs2292138	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2292139	0.85[ASN][1000 genomes]
rs2343108	0.90[EUR][1000 genomes]
rs2343109	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2343685	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2880678	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3817094	0.89[EUR][1000 genomes]
rs3825143	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3852536	0.91[EUR][1000 genomes]
rs3852537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4759355	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4759381	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4759382	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4759386	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4759387	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4759389	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4759392	0.81[AMR][1000 genomes]
rs59192320	0.85[ASN][1000 genomes]
rs7138398	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7139055	1.00[EUR][1000 genomes]
rs7294991	0.83[AMR][1000 genomes]
rs7959441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7972447	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7980541	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs897385	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs897386	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs897391	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs897392	0.83[AMR][1000 genomes]
rs897393	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs921808	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs936083	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs937766	0.91[EUR][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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123356200-123368600	Weak transcription	Hela-S3	cervix
2	chr12:123356800-123369200	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr12:123356800-123370000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr12:123357000-123369800	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr12:123357000-123373000	Weak transcription	Aorta	Aorta
6	chr12:123358800-123371400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:123359000-123369600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr12:123360800-123368800	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:123364000-123371000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:123364200-123370600	Weak transcription	Esophagus	oesophagus
11	chr12:123365000-123370600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr12:123365200-123369000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:123365200-123371000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:123365200-123373000	Weak transcription	Fetal Stomach	stomach
15	chr12:123365400-123369000	Enhancers	Fetal Thymus	thymus
16	chr12:123365400-123369600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:123365400-123373000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:123365600-123368600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:123365800-123368600	Weak transcription	NH-A	brain
20	chr12:123365800-123368600	Weak transcription	Osteobl	bone
21	chr12:123365800-123371600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr12:123365800-123371800	Weak transcription	Fetal Lung	lung
23	chr12:123366000-123368600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:123366000-123368600	Weak transcription	NHDF-Ad	bronchial
25	chr12:123366000-123368800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr12:123366000-123368800	Weak transcription	A549	lung
27	chr12:123366000-123369000	Weak transcription	Brain Substantia Nigra	brain
28	chr12:123366000-123370800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:123366000-123370800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:123366000-123370800	Weak transcription	Gastric	stomach
31	chr12:123366000-123371800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr12:123366000-123372000	Weak transcription	Brain Germinal Matrix	brain
33	chr12:123366000-123372800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:123366200-123368600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:123366200-123368600	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:123366200-123368600	Weak transcription	Psoas Muscle	Psoas
37	chr12:123366200-123368600	Weak transcription	Stomach Mucosa	stomach
38	chr12:123366200-123368800	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:123366200-123370600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:123366200-123370600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:123366200-123370800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:123366200-123370800	Weak transcription	Colonic Mucosa	Colon
43	chr12:123366200-123370800	Weak transcription	Right Ventricle	heart
44	chr12:123366200-123371600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:123366200-123371800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:123366200-123373000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr12:123366200-123379800	Weak transcription	Ovary	ovary
48	chr12:123366400-123368600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr12:123366400-123368600	Weak transcription	Fetal Heart	heart
50	chr12:123366400-123369000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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