Variant report

Variant	rs7397585
Chromosome Location	chr12:48154582-48154583
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48153014..48156848-chr12:48203481..48206772,3	K562	blood:
2	chr12:48151756..48154631-chr12:48166805..48168592,3	MCF-7	breast:
3	chr12:48151483..48157972-chr12:48164331..48169743,9	K562	blood:
4	chr12:48115323..48118041-chr12:48153022..48154829,2	MCF-7	breast:
5	chr12:48154545..48157015-chr12:48158766..48160780,2	MCF-7	breast:
6	chr12:48134835..48139182-chr12:48152118..48155732,5	MCF-7	breast:
7	chr12:48153850..48156955-chr12:48157657..48160878,3	K562	blood:

Variant related genes	Relation type
ENSG00000211584	Chromatin interaction
ENSG00000079337	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2239190	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3782908	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4760653	0.92[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7399189	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs757342	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[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	esv1813565	chr12:48097697-48177858	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv470289	chr12:48110551-48180508	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
4	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
5	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
6	nsv524967	chr12:48119562-48215180	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv527470	chr12:48119955-48190166	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv899059	chr12:48129344-48215180	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
9	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48153400-48156000	Weak transcription	Fetal Kidney	kidney
2	chr12:48153400-48159200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:48153400-48161800	Weak transcription	Aorta	Aorta
4	chr12:48153600-48155800	Weak transcription	Ovary	ovary
5	chr12:48153600-48156000	Weak transcription	Spleen	Spleen
6	chr12:48153600-48156800	Weak transcription	Left Ventricle	heart
7	chr12:48153600-48157000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:48153600-48157000	Weak transcription	Lung	lung
9	chr12:48153600-48157200	Weak transcription	Pancreas	Pancrea
10	chr12:48153600-48157200	Weak transcription	Right Atrium	heart
11	chr12:48153600-48157400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:48153600-48157400	Weak transcription	Fetal Lung	lung
13	chr12:48153600-48157400	Weak transcription	GM12878-XiMat	blood
14	chr12:48153600-48159000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:48153600-48159400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:48153600-48159800	Weak transcription	Brain Germinal Matrix	brain
17	chr12:48153600-48161000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:48153600-48161200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:48153600-48161200	Weak transcription	NHDF-Ad	bronchial
20	chr12:48153600-48162000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr12:48153600-48162200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:48153600-48162800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:48153600-48166000	Weak transcription	Brain Angular Gyrus	brain
24	chr12:48153600-48166200	Weak transcription	Brain Anterior Caudate	brain
25	chr12:48153600-48166400	Weak transcription	Fetal Brain Female	brain
26	chr12:48153600-48166800	Weak transcription	Gastric	stomach
27	chr12:48153800-48154600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:48153800-48154600	Enhancers	HUVEC	blood vessel
29	chr12:48153800-48154600	Enhancers	NHEK	skin
30	chr12:48153800-48156400	Weak transcription	Right Ventricle	heart
31	chr12:48153800-48156600	Weak transcription	Placenta	Placenta
32	chr12:48153800-48156800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:48153800-48156800	Weak transcription	HMEC	breast
34	chr12:48153800-48157200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:48153800-48157200	Weak transcription	Adipose Nuclei	Adipose
36	chr12:48153800-48157200	Weak transcription	Fetal Stomach	stomach
37	chr12:48153800-48157400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr12:48153800-48157600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr12:48153800-48157600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr12:48153800-48161400	Weak transcription	K562	blood
41	chr12:48153800-48162000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr12:48153800-48162200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:48153800-48165600	Weak transcription	Brain Hippocampus Middle	brain
44	chr12:48153800-48165800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:48153800-48166200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr12:48154000-48154600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:48154000-48155000	Weak transcription	Fetal Thymus	thymus
48	chr12:48154000-48156400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr12:48154000-48156400	Weak transcription	Fetal Heart	heart
50	chr12:48154000-48156400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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