Variant report

Variant	rs4759388
Chromosome Location	chr12:123379921-123379922
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123378963..123380595-chr17:56707601..56709189,2	MCF-7	breast:
2	chr12:123379526..123381919-chr12:123430934..123433003,2	MCF-7	breast:
3	chr12:123377844..123381497-chr12:123716230..123718980,3	K562	blood:
4	chr1:144533626..144534133-chr12:123379885..123380859,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000130921	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000150967	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1026395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1037593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10744394	0.88[EUR][1000 genomes]
rs10744439	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10847910	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11060211	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1671684	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1671686	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1696327	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2061099	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271048	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2343107	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2649904	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4759351	0.96[EUR][1000 genomes]
rs4759352	0.96[EUR][1000 genomes]
rs4759353	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4759354	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4759384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298176	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306047	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306948	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7485652	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958155	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs897384	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs897388	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs937765	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	chr12:123371600-123380000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr12:123378000-123380000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr12:123378000-123380000	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr12:123378000-123380000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
5	chr12:123378000-123380000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
6	chr12:123378000-123381000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:123378200-123381200	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr12:123378400-123380000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:123378400-123380000	Flanking Active TSS	NH-A	brain
10	chr12:123378400-123380400	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr12:123378400-123381000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr12:123378600-123380000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr12:123378600-123380000	Flanking Active TSS	Brain Cingulate Gyrus	brain
14	chr12:123378600-123380000	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr12:123378600-123380000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr12:123378600-123380000	Flanking Active TSS	HUVEC	blood vessel
17	chr12:123378600-123380200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:123378600-123380200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr12:123378600-123380200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr12:123378600-123380200	Flanking Active TSS	Liver	Liver
21	chr12:123378600-123380200	Flanking Active TSS	Fetal Brain Male	brain
22	chr12:123378600-123380800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:123378800-123380000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:123378800-123380000	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr12:123378800-123380000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:123378800-123380000	Flanking Active TSS	Brain Substantia Nigra	brain
27	chr12:123378800-123380000	Flanking Active TSS	Hela-S3	cervix
28	chr12:123378800-123380000	Flanking Active TSS	Osteobl	bone
29	chr12:123378800-123380200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr12:123378800-123380200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:123378800-123380200	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr12:123378800-123380200	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr12:123378800-123380200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr12:123378800-123380200	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr12:123378800-123380200	Flanking Active TSS	Dnd41	blood
36	chr12:123378800-123380400	Flanking Active TSS	Fetal Thymus	thymus
37	chr12:123378800-123380400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr12:123378800-123380800	Active TSS	Aorta	Aorta
39	chr12:123379000-123380000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
40	chr12:123379000-123380000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
41	chr12:123379000-123380000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:123379000-123380000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr12:123379000-123380000	Flanking Active TSS	Fetal Muscle Trunk	muscle
44	chr12:123379000-123380000	Flanking Active TSS	Psoas Muscle	Psoas
45	chr12:123379000-123380000	Flanking Active TSS	Thymus	Thymus
46	chr12:123379000-123380200	Flanking Active TSS	Primary B cells from peripheral blood	blood
47	chr12:123379000-123380200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr12:123379000-123380200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr12:123379000-123380200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:123379000-123380200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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