Variant report

Variant	rs17121715
Chromosome Location	chr12:59300529-59300530
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:59298649..59302358-chr12:59312790..59317375,5	MCF-7	breast:
2	chr12:59288987..59291985-chr12:59299185..59301925,2	MCF-7	breast:
3	chr12:59300516..59303019-chr12:59309552..59311828,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257443	Chromatin interaction
ENSG00000139263	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10506358	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.96[ASN][1000 genomes]
rs11172799	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.96[ASN][1000 genomes]
rs12303283	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17121676	1.00[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap];0.83[LWK][hapmap];0.93[MKK][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17121678	1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs59360671	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7957573	0.96[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	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:90 , 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	chr12:59284000-59300800	Weak transcription	Colonic Mucosa	Colon
6	chr12:59284000-59300800	Weak transcription	HepG2	liver
7	chr12:59284200-59304600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:59287800-59301800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:59289200-59300800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:59289400-59301200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:59289600-59300800	Weak transcription	Aorta	Aorta
12	chr12:59289800-59300800	Weak transcription	Lung	lung
13	chr12:59289800-59304600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:59289800-59305400	Weak transcription	Spleen	Spleen
15	chr12:59290600-59300800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:59290600-59300800	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:59290600-59307200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:59290600-59311000	Weak transcription	Right Ventricle	heart
19	chr12:59291800-59302800	Weak transcription	Psoas Muscle	Psoas
20	chr12:59292000-59300800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:59292200-59300800	Weak transcription	Brain Substantia Nigra	brain
22	chr12:59292400-59309200	Weak transcription	Fetal Heart	heart
23	chr12:59292400-59310600	Weak transcription	Small Intestine	intestine
24	chr12:59292600-59301600	Weak transcription	Gastric	stomach
25	chr12:59292600-59303000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr12:59293000-59301200	Weak transcription	Esophagus	oesophagus
27	chr12:59293600-59300800	Weak transcription	Pancreas	Pancrea
28	chr12:59295400-59302800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:59297800-59300800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:59297800-59300800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:59297800-59300800	Strong transcription	Fetal Stomach	stomach
32	chr12:59297800-59302200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:59297800-59302200	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:59297800-59303800	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr12:59297800-59305400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:59297800-59305400	Strong transcription	Liver	Liver
37	chr12:59297800-59305400	Strong transcription	Osteobl	bone
38	chr12:59297800-59306400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:59297800-59307400	Strong transcription	Fetal Intestine Large	intestine
40	chr12:59297800-59307600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr12:59297800-59307600	Strong transcription	Fetal Muscle Trunk	muscle
42	chr12:59297800-59308000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:59297800-59308000	Strong transcription	NHDF-Ad	bronchial
44	chr12:59298200-59300800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:59298200-59306800	Weak transcription	Fetal Brain Male	brain
46	chr12:59298400-59300800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:59298400-59300800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:59298400-59300800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr12:59298400-59300800	Weak transcription	HSMM	muscle
50	chr12:59298400-59301800	Enhancers	Colon Smooth Muscle	Colon

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