Variant report

Variant	rs12527394
Chromosome Location	chr6:31055018-31055019
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31046659..31048229-chr6:31054685..31056795,2	K562	blood:
2	chr6:31053892..31056272-chr6:31061858..31063779,2	K562	blood:
3	chr6:30580866..30584103-chr6:31054305..31056944,3	K562	blood:
4	chr6:30786635..30788882-chr6:31053908..31056408,2	K562	blood:
5	chr6:30449528..30450530-chr6:31054967..31055991,4	K562	blood:
6	chr6:30580245..30582942-chr6:31054014..31056579,2	MCF-7	breast:
7	chr6:30582603..30585766-chr6:31052873..31056975,5	K562	blood:
8	chr6:30687844..30689985-chr6:31054954..31057092,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196230	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204568	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10947134	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10947135	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12529288	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12662091	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2233963	0.92[AMR][1000 genomes]
rs2233970	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2233972	0.89[AMR][1000 genomes]
rs2233973	0.80[ASN][1000 genomes]
rs2233983	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2233984	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2233985	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2517473	0.81[ASN][1000 genomes]
rs2894179	0.95[ASN][1000 genomes]
rs34209658	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35802713	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3734854	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4495304	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4713431	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947246	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4947296	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4947297	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4947299	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4947302	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9263460	0.99[ASN][1000 genomes]
rs9263477	0.99[ASN][1000 genomes]
rs9263499	0.94[ASN][1000 genomes]
rs9263512	0.95[ASN][1000 genomes]
rs9263572	0.92[ASN][1000 genomes]
rs9263578	0.92[ASN][1000 genomes]
rs9295949	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295950	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9348854	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9357108	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9378152	0.92[AMR][1000 genomes]
rs9380215	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9380217	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9391708	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9391709	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9394037	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9394038	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9404978	0.89[AFR][1000 genomes]
rs9405049	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1029442	chr6:31006647-31449207	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
7	nsv884132	chr6:31014305-31057183	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv427750	chr6:31028290-31234581	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
9	nsv428140	chr6:31028290-31462106	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	89 gene(s)	inside rSNPs	diseases
10	esv2758042	chr6:31028290-31497106	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
11	esv2759414	chr6:31028290-31542308	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	151 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31040600-31062400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr6:31051000-31062200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:31052000-31061000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:31053400-31055200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:31053400-31055400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:31053400-31055800	Enhancers	Placenta	Placenta
7	chr6:31053600-31055200	Enhancers	K562	blood
8	chr6:31053800-31055600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr6:31054000-31055400	Enhancers	HepG2	liver
10	chr6:31054200-31055200	Enhancers	Primary hematopoietic stem cells	blood
11	chr6:31054200-31055200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:31054200-31055200	Enhancers	Duodenum Mucosa	Duodenum
13	chr6:31054200-31055400	Enhancers	Hela-S3	cervix
14	chr6:31054200-31055400	Enhancers	NHLF	lung
15	chr6:31054200-31055600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:31054200-31055600	Enhancers	NHEK	skin
17	chr6:31054400-31055200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:31054400-31055200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr6:31054400-31055400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:31054400-31055400	Enhancers	Stomach Mucosa	stomach
21	chr6:31054400-31055400	Flanking Active TSS	HUVEC	blood vessel
22	chr6:31054400-31055800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:31054600-31055200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:31054600-31055400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:31054600-31055400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr6:31054600-31055400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr6:31054600-31055400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:31054600-31055400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr6:31054600-31055400	Enhancers	Adipose Nuclei	Adipose
30	chr6:31054600-31055400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr6:31054600-31055400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr6:31054600-31055400	Enhancers	A549	lung
33	chr6:31054600-31055400	Enhancers	HMEC	breast
34	chr6:31054600-31055400	Flanking Active TSS	NH-A	brain
35	chr6:31054600-31055400	Flanking Active TSS	Osteobl	bone
36	chr6:31054800-31055200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr6:31054800-31055200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:31054800-31055200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:31054800-31055200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:31054800-31055200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr6:31054800-31055200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr6:31054800-31055200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:31054800-31055200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:31054800-31055200	Enhancers	Fetal Muscle Leg	muscle
45	chr6:31054800-31055200	Enhancers	Dnd41	blood
46	chr6:31054800-31055200	Flanking Active TSS	HSMM	muscle
47	chr6:31054800-31055200	Flanking Active TSS	NHDF-Ad	bronchial
48	chr6:31054800-31055400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr6:31054800-31055400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:31054800-31055400	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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