Variant report

Variant	rs12529380
Chromosome Location	chr6:139928678-139928679
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:139926929..139929579-chr6:139947168..139949800,3	K562	blood:
2	chr6:139920565..139922279-chr6:139926729..139929215,2	K562	blood:
3	chr6:139926812..139929737-chr6:139944252..139946929,2	K562	blood:
4	chr6:139927028..139928862-chr6:139932935..139935592,3	K562	blood:
5	chr6:139695492..139698098-chr6:139928166..139930067,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164442	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11155078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11155083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11755906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11759027	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12524508	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12524701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12525208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12525587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12527215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12528197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12660850	0.83[CHB][hapmap]
rs59846034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61654804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73775563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73775564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73775566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 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	chr6:139925400-139928800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:139925400-139928800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:139925400-139928800	Weak transcription	Aorta	Aorta
4	chr6:139927400-139930600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:139927600-139930000	Enhancers	Fetal Kidney	kidney
6	chr6:139928000-139929200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr6:139928000-139929400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr6:139928000-139930000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:139928000-139930200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr6:139928000-139930400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr6:139928200-139930000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:139928200-139930000	Enhancers	Fetal Lung	lung
13	chr6:139928400-139928800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:139928400-139929000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:139928400-139929000	Enhancers	HSMMtube	muscle
16	chr6:139928400-139929200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr6:139928400-139929200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:139928400-139929200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:139928400-139929200	Enhancers	Stomach Mucosa	stomach
20	chr6:139928400-139929400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr6:139928400-139930000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:139928400-139930000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:139928400-139930000	Enhancers	Fetal Stomach	stomach
24	chr6:139928400-139930200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr6:139928400-139931600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr6:139928600-139928800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr6:139928600-139928800	Enhancers	Placenta	Placenta
28	chr6:139928600-139928800	Enhancers	Ovary	ovary
29	chr6:139928600-139928800	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr6:139928600-139929000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:139928600-139929200	Enhancers	Pancreas	Pancrea
32	chr6:139928600-139929200	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr6:139928600-139929400	Enhancers	Fetal Brain Male	brain
34	chr6:139928600-139929800	Enhancers	H9 Cell Line	embryonic stem cell
35	chr6:139928600-139929800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:139928600-139929800	Enhancers	K562	blood
37	chr6:139928600-139930000	Enhancers	Osteobl	bone

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