Variant report

Variant	rs547057
Chromosome Location	chr6:106551403-106551404
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:106549886..106552780-chr6:106576798..106578575,2	MCF-7	breast:
2	chr6:106550794..106552365-chr6:106553055..106555090,2	MCF-7	breast:
3	chr6:106548314..106551554-chr6:106556106..106558201,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12175062	0.86[JPT][hapmap]
rs1984224	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4946724	0.86[JPT][hapmap]
rs535780	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6924535	1.00[CEU][hapmap];0.80[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106546600-106559000	Weak transcription	Colon Smooth Muscle	Colon
2	chr6:106546800-106552800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:106546800-106560200	Weak transcription	HSMM	muscle
4	chr6:106546800-106567000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:106547000-106552000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
6	chr6:106547200-106562600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:106547400-106552800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:106547400-106552800	Weak transcription	Placenta	Placenta
9	chr6:106547400-106553000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:106547400-106557200	Strong transcription	Fetal Intestine Large	intestine
11	chr6:106547400-106558200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:106547400-106560200	Weak transcription	NH-A	brain
13	chr6:106547600-106556400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:106547800-106552600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr6:106548000-106552800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
16	chr6:106548000-106553200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:106548000-106556600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr6:106548400-106552000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr6:106548400-106561800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr6:106548600-106551800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:106548800-106551800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:106549200-106552800	Weak transcription	A549	lung
23	chr6:106549400-106551600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr6:106549600-106552000	Active TSS	Right Atrium	heart
25	chr6:106549600-106554800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr6:106550000-106552000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr6:106550000-106552200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
28	chr6:106550000-106552600	Weak transcription	Hela-S3	cervix
29	chr6:106550200-106552000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr6:106550200-106552000	Flanking Active TSS	GM12878-XiMat	blood
31	chr6:106550400-106551800	Enhancers	Fetal Heart	heart
32	chr6:106550400-106552000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr6:106550800-106551600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr6:106550800-106551600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr6:106550800-106551600	Flanking Active TSS	K562	blood
36	chr6:106550800-106552000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:106550800-106552000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr6:106550800-106552600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr6:106550800-106556400	Strong transcription	Fetal Intestine Small	intestine
40	chr6:106551000-106551600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr6:106551000-106551600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr6:106551000-106551600	Active TSS	Brain Anterior Caudate	brain
43	chr6:106551000-106551800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr6:106551000-106551800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr6:106551000-106551800	Active TSS	Osteobl	bone
46	chr6:106551000-106555400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:106551200-106551600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr6:106551200-106551600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:106551200-106551600	Enhancers	Brain Hippocampus Middle	brain
50	chr6:106551200-106551600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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