Variant report

Variant	rs4759362
Chromosome Location	chr12:123508061-123508062
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123506503..123509375-chr12:123511133..123513155,2	MCF-7	breast:
2	chr12:123507054..123512479-chr12:123514635..123518784,6	K562	blood:
3	chr12:123486593..123489135-chr12:123506316..123509086,2	MCF-7	breast:
4	chr12:123507465..123509147-chr12:123633659..123636538,2	K562	blood:
5	chr12:123505890..123509531-chr12:123511105..123514419,3	K562	blood:

Variant related genes	Relation type
ENSG00000090975	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10847980	0.81[JPT][hapmap]
rs11060406	1.00[YRI][hapmap]
rs11060762	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs11060993	0.81[ASN][1000 genomes]
rs11546826	1.00[YRI][hapmap]
rs1568918	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1783244	1.00[YRI][hapmap]
rs2270788	0.88[JPT][hapmap]
rs3759111	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs3759113	1.00[CEU][hapmap]
rs3782289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4148857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148858	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4148864	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4148865	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4759360	0.87[EUR][1000 genomes]
rs4759367	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4759407	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs596940	1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.90[ASN][1000 genomes]
rs73230017	0.86[ASN][1000 genomes]
rs7398697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967118	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv560494	chr12:123478378-123560731	Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123466800-123516000	Weak transcription	Small Intestine	intestine
2	chr12:123469400-123509400	Weak transcription	NHDF-Ad	bronchial
3	chr12:123469400-123509600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:123470200-123512800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:123470400-123526600	Weak transcription	Fetal Lung	lung
6	chr12:123489200-123512400	Weak transcription	Aorta	Aorta
7	chr12:123490000-123515800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:123490200-123511000	Weak transcription	Pancreas	Pancrea
9	chr12:123490200-123528200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:123491600-123526400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:123492000-123518600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:123492600-123515800	Weak transcription	Fetal Brain Male	brain
13	chr12:123492800-123509400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:123493600-123517600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:123494000-123509000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr12:123494400-123511800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr12:123494400-123517800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:123494400-123518000	Weak transcription	Brain Substantia Nigra	brain
19	chr12:123494600-123510600	Weak transcription	Brain Anterior Caudate	brain
20	chr12:123494600-123510800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:123494800-123517000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:123495000-123514000	Weak transcription	Brain Angular Gyrus	brain
23	chr12:123495200-123512800	Weak transcription	Brain Germinal Matrix	brain
24	chr12:123495600-123509800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:123496000-123511200	Weak transcription	Esophagus	oesophagus
26	chr12:123496000-123526400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:123496600-123517600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:123497200-123509800	Weak transcription	Fetal Brain Female	brain
29	chr12:123497200-123517200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:123497200-123517600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr12:123497400-123528600	Weak transcription	Ovary	ovary
32	chr12:123497800-123511800	Weak transcription	Fetal Muscle Leg	muscle
33	chr12:123497800-123526000	Weak transcription	Colon Smooth Muscle	Colon
34	chr12:123498400-123509200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr12:123498400-123509400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr12:123498400-123510200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:123498400-123510400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:123498400-123511200	Weak transcription	Spleen	Spleen
39	chr12:123498400-123511800	Weak transcription	Adipose Nuclei	Adipose
40	chr12:123498400-123512000	Weak transcription	Left Ventricle	heart
41	chr12:123498600-123509200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr12:123498600-123509400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:123498600-123510800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr12:123498600-123511200	Weak transcription	Gastric	stomach
45	chr12:123498600-123512400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:123498600-123513400	Weak transcription	Primary B cells from cord blood	blood
47	chr12:123498600-123516000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr12:123498800-123509200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr12:123498800-123509600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr12:123498800-123510800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links