Variant report

Variant	rs12524155
Chromosome Location	chr6:144326046-144326047
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	chr6:144162948..144166199-chr6:144325900..144330312,6	K562	blood:
2	chr6:144321371..144324041-chr6:144325680..144328312,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SF3B5-2	chr6:144325474-144329867	NONHSAT115373

Variant related genes	Relation type
ENSG00000135521	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11155339	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12528481	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12529147	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2281476	0.94[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs28364590	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55769736	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56360488	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6937128	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6937531	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73006291	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7773278	0.80[AFR][1000 genomes]
rs9766199	0.88[AFR][1000 genomes];0.90[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	esv3408554	chr6:144106707-144369589	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3522138	chr6:144174685-144367463	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3522139	chr6:144174685-144367463	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830830	chr6:144177942-144380870	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv5516	chr6:144300321-144345812	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144305000-144327400	Weak transcription	Fetal Kidney	kidney
2	chr6:144305000-144327400	Weak transcription	Fetal Lung	lung
3	chr6:144306600-144327400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:144309000-144327400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:144310000-144327200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr6:144312800-144327400	Weak transcription	Left Ventricle	heart
7	chr6:144315800-144327200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:144317600-144327400	Weak transcription	HMEC	breast
9	chr6:144318000-144327200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr6:144321800-144327400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:144322000-144327400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:144322200-144327400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr6:144322800-144327600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr6:144323000-144327400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:144323200-144327400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr6:144323600-144327400	Weak transcription	Adipose Nuclei	Adipose
17	chr6:144324200-144326200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr6:144324200-144327200	Weak transcription	NH-A	brain
19	chr6:144324400-144326200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:144324400-144327600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr6:144324600-144327400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:144324600-144327400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:144324800-144326200	Weak transcription	Fetal Muscle Leg	muscle
24	chr6:144325200-144330000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:144325400-144326200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:144325600-144327400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:144326000-144326400	Weak transcription	K562	blood
28	chr6:144326000-144330000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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