Variant report

Variant	rs1264442
Chromosome Location	chr6:30548700-30548701
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:30548237-30548728	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:30547518..30551747-chr6:30582019..30585146,4	MCF-7	breast:
2	chr6:30547585..30549904-chr6:30552603..30554417,2	MCF-7	breast:
3	chr6:30537912..30539988-chr6:30546933..30549910,2	MCF-7	breast:
4	chr6:30522669..30525149-chr6:30545524..30548867,3	MCF-7	breast:

Variant related genes	Relation type
ABCF1	TF binding region
MIR877	TF binding region
ENSG00000204569	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204574	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000204590	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1264422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1264430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17195432	1.00[AMR][1000 genomes]
rs2252845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2517563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2517567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2534688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3094103	1.00[AMR][1000 genomes]
rs3094105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3130674	1.00[AMR][1000 genomes]
rs3130675	1.00[AMR][1000 genomes]
rs3132593	1.00[AMR][1000 genomes]
rs34377509	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
6	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
7	nsv884091	chr6:30526026-30590646	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	776 gene(s)	inside rSNPs	diseases
8	nsv5244	chr6:30545111-30589803	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	772 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30540200-30582200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:30540200-30582200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:30540400-30563000	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr6:30540800-30560800	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr6:30540800-30563600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:30540800-30563600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:30540800-30563800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:30541000-30550400	Weak transcription	Fetal Brain Male	brain
9	chr6:30541400-30567400	Weak transcription	Fetal Heart	heart
10	chr6:30541600-30555400	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr6:30541600-30563000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr6:30541800-30558000	Strong transcription	NHLF	lung
13	chr6:30541800-30562800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:30541800-30565200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:30542000-30562800	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr6:30542200-30554800	Strong transcription	Primary B cells from cord blood	blood
17	chr6:30542200-30555000	Strong transcription	NHEK	skin
18	chr6:30542200-30556800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:30542200-30557800	Strong transcription	Placenta	Placenta
20	chr6:30542200-30563200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:30542200-30564000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr6:30542200-30581800	Weak transcription	Right Atrium	heart
23	chr6:30542400-30550400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr6:30542600-30558400	Strong transcription	Fetal Thymus	thymus
25	chr6:30542800-30563400	Strong transcription	Fetal Stomach	stomach
26	chr6:30543000-30562800	Strong transcription	Thymus	Thymus
27	chr6:30543200-30551400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:30543200-30554000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:30543200-30555000	Strong transcription	NHDF-Ad	bronchial
30	chr6:30543200-30555200	Strong transcription	Left Ventricle	heart
31	chr6:30543200-30557200	Strong transcription	Fetal Lung	lung
32	chr6:30543200-30557600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:30543200-30557800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:30543200-30557800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:30543200-30558000	Strong transcription	Lung	lung
36	chr6:30543200-30558000	Strong transcription	Osteobl	bone
37	chr6:30543200-30558200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:30543200-30560400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr6:30543200-30562800	Strong transcription	Adipose Nuclei	Adipose
40	chr6:30543200-30563000	Strong transcription	Fetal Brain Female	brain
41	chr6:30543200-30563000	Strong transcription	Fetal Muscle Trunk	muscle
42	chr6:30543200-30563000	Strong transcription	Fetal Muscle Leg	muscle
43	chr6:30543200-30563400	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr6:30543200-30563400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr6:30543200-30563600	Strong transcription	Stomach Smooth Muscle	stomach
46	chr6:30543400-30552000	Weak transcription	Stomach Mucosa	stomach
47	chr6:30543400-30555000	Strong transcription	K562	blood
48	chr6:30543400-30557400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:30543400-30560600	Strong transcription	Duodenum Mucosa	Duodenum
50	chr6:30543400-30560800	Strong transcription	Brain Hippocampus Middle	brain

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