Variant report

Variant	rs6582405
Chromosome Location	chr12:42969680-42969681
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42965039..42966620-chr12:42968877..42971244,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10128834	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11181553	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11181555	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11181556	0.82[EUR][1000 genomes]
rs11181560	0.82[EUR][1000 genomes]
rs12228734	0.84[EUR][1000 genomes]
rs12312958	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12320873	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs17091361	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2103410	0.84[EUR][1000 genomes]
rs56898852	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6582403	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7308904	0.83[EUR][1000 genomes]
rs7955255	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7965297	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832388	chr12:42878328-43087069	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42939800-42971000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:42946800-42975200	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:42959200-42971400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:42959400-42978600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:42960000-42969800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:42960000-42976000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:42960400-42981400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:42963800-42977200	Weak transcription	HSMM	muscle
9	chr12:42963800-42978400	Weak transcription	NH-A	brain
10	chr12:42964000-42969800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:42965600-42969800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:42965600-42978600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:42966600-42976000	Enhancers	HUVEC	blood vessel
14	chr12:42967000-42973400	Enhancers	Fetal Heart	heart
15	chr12:42967400-42971800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:42967800-42970000	Enhancers	HSMMtube	muscle
17	chr12:42967800-42979400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:42968000-42970600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:42968000-42975600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:42968000-42978600	Weak transcription	Left Ventricle	heart
21	chr12:42968200-42970600	Enhancers	Fetal Lung	lung
22	chr12:42968400-42975800	Weak transcription	Osteobl	bone
23	chr12:42968400-42976400	Weak transcription	Aorta	Aorta
24	chr12:42968400-42978000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:42968600-42970400	Enhancers	Fetal Kidney	kidney
26	chr12:42968800-42969800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:42968800-42971000	Enhancers	Stomach Mucosa	stomach
28	chr12:42969000-42970200	Enhancers	Ovary	ovary
29	chr12:42969000-42970600	Enhancers	Fetal Stomach	stomach
30	chr12:42969600-42969800	Enhancers	Adipose Nuclei	Adipose
31	chr12:42969600-42969800	Enhancers	HMEC	breast
32	chr12:42969600-42970400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr12:42969600-42970400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:42969600-42970600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr12:42969600-42970600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr12:42969600-42970600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr12:42969600-42970800	Enhancers	HUES64 Cell Line	embryonic stem cell

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