Variant report

Variant	rs6933139
Chromosome Location	chr6:26327394-26327395
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SREBP2	chr6:26326769-26332545	GM12878	blood:	n/a	n/a
2	GTF3C2	chr6:26327292-26329060	K562	blood:	n/a	n/a
3	NR2F2	chr6:26327392-26329490	K562	blood:	n/a	n/a
4	SIX5	chr6:26327385-26328729	A549	lung:	n/a	chr6:26327658-26327674
5	ATF3	chr6:26327324-26328807	A549	lung:	n/a	n/a
6	CBX3	chr6:26327276-26329386	K562	blood:	n/a	chr6:26328524-26328535
7	TEAD4	chr6:26327376-26328799	SK-N-SH	brain:	n/a	n/a
8	TEAD4	chr6:26327386-26329452	K562	blood:	n/a	n/a
9	CREB1	chr6:26327394-26328776	K562	blood:	n/a	n/a
10	MYBL2	chr6:26327392-26328712	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:26317773..26322423-chr6:26326646..26329657,4	MCF-7	breast:
2	chr6:26326957..26329789-chr6:26556896..26559619,2	MCF-7	breast:
3	chr6:26323417..26326776-chr6:26326785..26329865,3	MCF-7	breast:
4	chr6:26322866..26325773-chr6:26327005..26329096,3	MCF-7	breast:
5	chr6:26325742..26329401-chr6:26567650..26570455,4	K562	blood:
6	chr6:26325462..26328933-chr6:26567431..26570210,5	K562	blood:

No data

Variant related genes	Relation type
HIST1H3PS1	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1053860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12660432	0.88[ASN][1000 genomes]
rs13210340	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17608582	0.88[ASN][1000 genomes]
rs1883213	0.84[ASN][1000 genomes]
rs1987244	0.84[ASN][1000 genomes]
rs2893820	0.84[ASN][1000 genomes]
rs3778279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61324092	0.84[ASN][1000 genomes]
rs62394764	0.84[ASN][1000 genomes]
rs62394768	0.90[ASN][1000 genomes]
rs62394769	0.83[ASN][1000 genomes]
rs6456713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6917995	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6918325	0.90[ASN][1000 genomes]
rs6932584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6932727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs725575	0.84[ASN][1000 genomes]
rs9358924	0.81[ASN][1000 genomes]
rs9358925	0.88[ASN][1000 genomes]
rs9358926	0.81[ASN][1000 genomes]
rs9366648	0.84[ASN][1000 genomes]
rs9379846	0.86[ASN][1000 genomes]
rs9393700	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs994379	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][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	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1030351	chr6:25813178-26352046	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1189 gene(s)	inside rSNPs	diseases
4	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers 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	1201 gene(s)	inside rSNPs	diseases
5	nsv428137	chr6:25987413-26351920	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1181 gene(s)	inside rSNPs	diseases
6	nsv1018665	chr6:26026870-26352046	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1116 gene(s)	inside rSNPs	diseases
7	nsv482729	chr6:26291011-26470898	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv5230	chr6:26321593-26361531	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26322800-26327400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:26322800-26327400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:26322800-26327400	Weak transcription	NHLF	lung
4	chr6:26322800-26331200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:26323000-26327600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr6:26323400-26327600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr6:26323600-26327400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:26323600-26327400	Weak transcription	NH-A	brain
9	chr6:26323600-26327600	Weak transcription	Dnd41	blood
10	chr6:26323600-26327600	Weak transcription	NHDF-Ad	bronchial
11	chr6:26323600-26327800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:26323600-26327800	Weak transcription	HSMM	muscle
13	chr6:26326400-26327800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:26326600-26332800	Active TSS	A549	lung
15	chr6:26326800-26327400	Enhancers	HepG2	liver
16	chr6:26326800-26327600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr6:26326800-26329000	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr6:26326800-26329000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:26326800-26329000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:26326800-26329400	Active TSS	H9 Cell Line	embryonic stem cell
21	chr6:26326800-26329600	Active TSS	K562	blood
22	chr6:26326800-26330200	Active TSS	GM12878-XiMat	blood
23	chr6:26327000-26327800	Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr6:26327000-26328000	Active TSS	HUVEC	blood vessel
25	chr6:26327000-26328800	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr6:26327000-26329000	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr6:26327000-26329000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:26327000-26329200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:26327000-26329400	Active TSS	H1 Cell Line	embryonic stem cell
30	chr6:26327000-26329400	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr6:26327000-26329400	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr6:26327000-26331800	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr6:26327200-26327400	Active TSS	Placenta	Placenta
34	chr6:26327200-26327600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:26327200-26327800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr6:26327200-26328000	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr6:26327200-26328400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:26327200-26328400	Bivalent/Poised TSS	Fetal Brain Female	brain
39	chr6:26327200-26328800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:26327200-26328800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:26327200-26328800	Active TSS	HMEC	breast
42	chr6:26327200-26329000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr6:26327200-26329000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:26327200-26329000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr6:26327200-26329000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr6:26327200-26329000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr6:26327200-26329400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:26327200-26329400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:26327200-26333000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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