Variant report

Variant	rs4946726
Chromosome Location	chr6:106566042-106566043
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:106565935..106568775-chr6:106582626..106585270,2	MCF-7	breast:
2	chr6:106560644..106566595-chr6:106567704..106572815,8	K562	blood:
3	chr6:106562714..106568673-chr6:106569146..106572965,6	K562	blood:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs4946727	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72941700	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72943407	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72943409	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72943416	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72943417	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72943420	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72943421	0.81[AMR][1000 genomes]
rs9373834	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1025231	chr6:106451012-106634389	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv830755	chr6:106461705-106624202	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1025900	chr6:106529777-106898421	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1018270	chr6:106531658-106908606	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv538399	chr6:106531658-106908606	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	esv1832544	chr6:106539914-106642993	Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1035110	chr6:106557281-106802212	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv538400	chr6:106557281-106802212	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106546800-106567000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:106553600-106584000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:106554600-106566800	Weak transcription	Hela-S3	cervix
4	chr6:106556400-106567400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:106557200-106567200	Weak transcription	Fetal Intestine Large	intestine
6	chr6:106557600-106567400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:106559200-106567200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr6:106559200-106574200	Weak transcription	Small Intestine	intestine
9	chr6:106559600-106567200	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr6:106560200-106567800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:106560800-106567200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr6:106561400-106567400	Weak transcription	Fetal Intestine Small	intestine
13	chr6:106561600-106567000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr6:106562000-106567400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:106562600-106567200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr6:106563000-106567400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:106563200-106567400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:106563200-106567600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr6:106563400-106566200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:106563400-106567000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr6:106563600-106567400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:106563600-106567400	Weak transcription	HSMM	muscle
23	chr6:106564000-106566600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr6:106564200-106566400	Enhancers	Dnd41	blood
25	chr6:106564200-106566600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr6:106564200-106566600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr6:106564200-106567000	Enhancers	Primary T cells from cord blood	blood
28	chr6:106564400-106566200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:106564400-106566600	Enhancers	Fetal Thymus	thymus
30	chr6:106564400-106567000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:106564400-106567000	Weak transcription	HSMMtube	muscle
32	chr6:106564400-106567800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr6:106564600-106566800	Enhancers	Primary hematopoietic stem cells	blood
34	chr6:106564600-106566800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:106564600-106566800	Weak transcription	NHDF-Ad	bronchial
36	chr6:106564600-106567200	Weak transcription	Fetal Heart	heart
37	chr6:106564600-106567400	Weak transcription	Esophagus	oesophagus
38	chr6:106564600-106568000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:106564800-106566200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:106564800-106566200	Enhancers	GM12878-XiMat	blood
41	chr6:106564800-106566800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:106564800-106567000	Weak transcription	NHEK	skin
43	chr6:106564800-106567200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:106564800-106567800	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr6:106565000-106566800	Weak transcription	HMEC	breast
46	chr6:106565200-106566600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr6:106565400-106567200	Enhancers	Placenta	Placenta
48	chr6:106565800-106567800	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr6:106565800-106572600	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr6:106566000-106567200	Enhancers	Primary T helper cells PMA-I stimulated	--

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