Variant report

Variant	rs56832868
Chromosome Location	chr12:1688157-1688158
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1686155..1688977-chr12:1689478..1691002,2	MCF-7	breast:
2	chr12:1686129..1688315-chr12:1695875..1697621,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11061910	1.00[ASN][1000 genomes]
rs12816304	1.00[ASN][1000 genomes]
rs12818971	1.00[ASN][1000 genomes]
rs12822334	1.00[ASN][1000 genomes]
rs12827353	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827787	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12828057	1.00[ASN][1000 genomes]
rs16928611	1.00[ASN][1000 genomes]
rs16928615	1.00[ASN][1000 genomes]
rs34162487	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35158962	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35177332	1.00[ASN][1000 genomes]
rs35245056	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35316910	1.00[ASN][1000 genomes]
rs35391324	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35444259	1.00[ASN][1000 genomes]
rs35538655	1.00[ASN][1000 genomes]
rs35710824	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35910263	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56089042	1.00[ASN][1000 genomes]
rs56110457	1.00[ASN][1000 genomes]
rs61914792	1.00[ASN][1000 genomes]
rs61914793	1.00[ASN][1000 genomes]
rs61914794	1.00[ASN][1000 genomes]
rs6489317	1.00[ASN][1000 genomes]
rs67017750	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71454830	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71454831	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307418	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045278	chr12:920251-1697030	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	esv3397478	chr12:1535455-1730159	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv898584	chr12:1607390-1783251	Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv826180	chr12:1614395-1759431	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv826181	chr12:1619798-1754941	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv470258	chr12:1670493-1698010	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1651000-1690400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:1669600-1689200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:1673000-1692600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:1674400-1692600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:1675000-1692000	Weak transcription	HSMM	muscle
6	chr12:1675400-1689000	Weak transcription	Primary T cells from cord blood	blood
7	chr12:1675800-1692600	Weak transcription	Brain Substantia Nigra	brain
8	chr12:1679600-1697000	Weak transcription	HSMMtube	muscle
9	chr12:1680800-1692400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr12:1683800-1690200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:1684800-1688600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:1685000-1695000	Weak transcription	Thymus	Thymus
13	chr12:1685200-1689200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:1685200-1690200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:1685200-1690600	Weak transcription	GM12878-XiMat	blood
16	chr12:1685200-1698000	Weak transcription	Spleen	Spleen
17	chr12:1685600-1690600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:1685600-1695000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:1685600-1699600	Weak transcription	Esophagus	oesophagus
20	chr12:1685800-1689800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:1685800-1689800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:1685800-1692600	Weak transcription	Brain Anterior Caudate	brain
23	chr12:1685800-1699800	Weak transcription	Right Ventricle	heart
24	chr12:1686000-1692600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr12:1686000-1693000	Enhancers	NHDF-Ad	bronchial
26	chr12:1686000-1697000	Weak transcription	Aorta	Aorta
27	chr12:1686000-1698000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr12:1686400-1689200	Weak transcription	Brain Germinal Matrix	brain
29	chr12:1686400-1690400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:1686400-1693000	Weak transcription	Colonic Mucosa	Colon
31	chr12:1686400-1696800	Weak transcription	Brain Angular Gyrus	brain
32	chr12:1686400-1698000	Weak transcription	Left Ventricle	heart
33	chr12:1686600-1688600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:1686600-1689000	Weak transcription	NH-A	brain
35	chr12:1686600-1690400	Weak transcription	Lung	lung
36	chr12:1686600-1690600	Weak transcription	Adipose Nuclei	Adipose
37	chr12:1686600-1691600	Weak transcription	Colon Smooth Muscle	Colon
38	chr12:1686600-1692400	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:1686600-1692400	Enhancers	Osteobl	bone
40	chr12:1686600-1692600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr12:1686600-1692600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:1686600-1697000	Weak transcription	Fetal Brain Female	brain
43	chr12:1686600-1697000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:1686800-1689000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:1687000-1688600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:1687000-1689000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr12:1687000-1690000	Weak transcription	Fetal Stomach	stomach
48	chr12:1687000-1690000	Weak transcription	Gastric	stomach
49	chr12:1687000-1690200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:1687000-1690400	Weak transcription	Fetal Muscle Trunk	muscle

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