Variant report

Variant	rs73727813
Chromosome Location	chr6:31054531-31054532
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:31053892..31056272-chr6:31061858..31063779,2	K562	blood:
2	chr6:31052953..31054749-chr6:31082440..31085356,2	MCF-7	breast:
3	chr6:30580866..30584103-chr6:31054305..31056944,3	K562	blood:
4	chr6:30786635..30788882-chr6:31053908..31056408,2	K562	blood:
5	chr6:30580245..30582942-chr6:31054014..31056579,2	MCF-7	breast:
6	chr6:30582603..30585766-chr6:31052873..31056975,5	K562	blood:

Variant related genes	Relation type
ENSG00000204540	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000204568	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs35680434	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9461644	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9500874	1.00[AMR][1000 genomes]
rs9501046	1.00[AMR][1000 genomes]
rs9501051	1.00[AMR][1000 genomes]
rs9501052	1.00[AMR][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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31040600-31055000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:31040600-31062400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr6:31047600-31054600	Weak transcription	A549	lung
4	chr6:31047600-31054800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:31047600-31054800	Weak transcription	Left Ventricle	heart
6	chr6:31047600-31054800	Weak transcription	Right Atrium	heart
7	chr6:31047800-31054600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:31047800-31055000	Weak transcription	Brain Hippocampus Middle	brain
9	chr6:31048000-31054800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:31048000-31054800	Weak transcription	Dnd41	blood
11	chr6:31051000-31062200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:31051600-31054600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:31051800-31054800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr6:31051800-31054800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr6:31052000-31054600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr6:31052000-31054600	Weak transcription	Adipose Nuclei	Adipose
17	chr6:31052000-31054600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr6:31052000-31054600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr6:31052000-31054600	Weak transcription	HMEC	breast
20	chr6:31052000-31054800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:31052000-31054800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr6:31052000-31055000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr6:31052000-31061000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr6:31053200-31054600	Enhancers	NH-A	brain
25	chr6:31053400-31055000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:31053400-31055200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:31053400-31055400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:31053400-31055800	Enhancers	Placenta	Placenta
29	chr6:31053600-31054600	Enhancers	Osteobl	bone
30	chr6:31053600-31055200	Enhancers	K562	blood
31	chr6:31053800-31054600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:31053800-31055600	Enhancers	Placenta Amnion	Placenta Amnion
33	chr6:31054000-31054800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr6:31054000-31055000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:31054000-31055400	Enhancers	HepG2	liver
36	chr6:31054200-31054600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:31054200-31054800	Enhancers	HSMM	muscle
38	chr6:31054200-31054800	Enhancers	HSMMtube	muscle
39	chr6:31054200-31054800	Enhancers	NHDF-Ad	bronchial
40	chr6:31054200-31055200	Enhancers	Primary hematopoietic stem cells	blood
41	chr6:31054200-31055200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:31054200-31055200	Enhancers	Duodenum Mucosa	Duodenum
43	chr6:31054200-31055400	Enhancers	Hela-S3	cervix
44	chr6:31054200-31055400	Enhancers	NHLF	lung
45	chr6:31054200-31055600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:31054200-31055600	Enhancers	NHEK	skin
47	chr6:31054400-31054600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:31054400-31054600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr6:31054400-31054800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:31054400-31055000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum

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