Variant report

Variant	rs7303924
Chromosome Location	chr12:59298859-59298860
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:59298649..59302358-chr12:59312790..59317375,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139263	Chromatin interaction
ENSG00000257443	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10506358	0.81[YRI][hapmap]
rs10783927	0.82[EUR][1000 genomes]
rs10877184	0.82[CEU][hapmap];0.94[EUR][1000 genomes]
rs10877186	0.82[CEU][hapmap];0.94[EUR][1000 genomes]
rs11172796	0.84[CHB][hapmap];0.81[CHD][hapmap]
rs11172799	0.81[LWK][hapmap]
rs11172814	0.80[ASN][1000 genomes]
rs11172818	0.89[MKK][hapmap];0.82[YRI][hapmap]
rs2291799	0.82[EUR][1000 genomes]
rs2291800	0.82[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	esv2758311	chr12:59022729-59323045	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer 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	12 gene(s)	inside rSNPs	diseases
2	esv2759902	chr12:59022729-59323045	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer 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	12 gene(s)	inside rSNPs	diseases
3	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59266000-59311000	Weak transcription	Fetal Thymus	thymus
2	chr12:59275000-59300800	Weak transcription	HSMMtube	muscle
3	chr12:59279000-59310800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:59279200-59309400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:59283800-59300400	Weak transcription	Placenta	Placenta
6	chr12:59284000-59300800	Weak transcription	Colonic Mucosa	Colon
7	chr12:59284000-59300800	Weak transcription	HepG2	liver
8	chr12:59284200-59304600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:59287800-59301800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:59289200-59300800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:59289400-59301200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:59289600-59300800	Weak transcription	Aorta	Aorta
13	chr12:59289800-59300800	Weak transcription	Lung	lung
14	chr12:59289800-59304600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:59289800-59305400	Weak transcription	Spleen	Spleen
16	chr12:59290600-59300800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:59290600-59300800	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:59290600-59307200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:59290600-59311000	Weak transcription	Right Ventricle	heart
20	chr12:59291800-59302800	Weak transcription	Psoas Muscle	Psoas
21	chr12:59292000-59300800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr12:59292200-59300800	Weak transcription	Brain Substantia Nigra	brain
23	chr12:59292400-59309200	Weak transcription	Fetal Heart	heart
24	chr12:59292400-59310600	Weak transcription	Small Intestine	intestine
25	chr12:59292600-59301600	Weak transcription	Gastric	stomach
26	chr12:59292600-59303000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr12:59293000-59301200	Weak transcription	Esophagus	oesophagus
28	chr12:59293600-59300800	Weak transcription	Pancreas	Pancrea
29	chr12:59295400-59302800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:59296200-59299600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:59297800-59299000	Strong transcription	Fetal Kidney	kidney
32	chr12:59297800-59299600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:59297800-59299800	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:59297800-59299800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:59297800-59299800	Strong transcription	Adipose Nuclei	Adipose
36	chr12:59297800-59300000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:59297800-59300200	Strong transcription	HMEC	breast
38	chr12:59297800-59300400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:59297800-59300400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:59297800-59300800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:59297800-59300800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:59297800-59300800	Strong transcription	Fetal Stomach	stomach
43	chr12:59297800-59302200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:59297800-59302200	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr12:59297800-59303800	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr12:59297800-59305400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:59297800-59305400	Strong transcription	Liver	Liver
48	chr12:59297800-59305400	Strong transcription	Osteobl	bone
49	chr12:59297800-59306400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:59297800-59307400	Strong transcription	Fetal Intestine Large	intestine

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