Variant report

Variant	rs9357031
Chromosome Location	chr6:27046754-27046755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:147)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:147 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:27046570-27047075	K562	blood:	n/a	n/a
2	YY1	chr6:27046634-27047064	GM12878	blood:	n/a	n/a
3	RAD21	chr6:27046604-27047052	IMR90	lung:	n/a	n/a
4	RAD21	chr6:27046519-27047105	A549	lung:	n/a	n/a
5	RAD21	chr6:27046561-27046985	K562	blood:	n/a	n/a
6	RAD21	chr6:27046481-27047155	A549	lung:	n/a	n/a
7	RAD21	chr6:27046499-27047043	MCF-7	breast:	n/a	n/a
8	RAD21	chr6:27046486-27047059	HepG2	liver:	n/a	n/a
9	RAD21	chr6:27046627-27047028	A549	lung:	n/a	n/a
10	CTCF	chr6:27046740-27046890	GM12868	blood:	n/a	n/a
11	CTCF	chr6:27046747-27046991	HepG2	liver:	n/a	n/a
12	CTCF	chr6:27046740-27046890	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr6:27046700-27046994	HUVEC	blood vessel:	n/a	n/a
14	RAD21	chr6:27046493-27047163	MCF-7	breast:	n/a	n/a
15	RUNX3	chr6:27046407-27047053	GM12878	blood:	n/a	n/a
16	MAZ	chr6:27046510-27046904	GM12878	blood:	n/a	n/a
17	RUNX3	chr6:27046487-27046957	GM12878	blood:	n/a	n/a
18	STAT1	chr6:27046616-27046991	GM12878	blood:	n/a	n/a
19	MAX	chr6:27046489-27046905	GM12878	blood:	n/a	n/a
20	CTCF	chr6:27046740-27046890	GM12878	blood:	n/a	n/a
21	CTCF	chr6:27046720-27046870	A549	lung:	n/a	n/a
22	CTCF	chr6:27046675-27046997	GM12878	blood:	n/a	n/a
23	CTCF	chr6:27046581-27047001	A549	lung:	n/a	n/a
24	CTCF	chr6:27046677-27046953	A549	lung:	n/a	n/a
25	GATA2	chr6:27046583-27047335	SH-SY5Y	brain:	n/a	chr6:27047224-27047231
26	SMC3	chr6:27046471-27047098	GM12878	blood:	n/a	chr6:27046846-27046860 chr6:27046848-27046862
27	CTCF	chr6:27046740-27046890	HMEC	breast:	n/a	n/a
28	RAD21	chr6:27046402-27047047	H1-hESC	embryonic stem cell:	n/a	n/a
29	RAD21	chr6:27046453-27046991	GM12878	blood:	n/a	n/a
30	MAZ	chr6:27046564-27046923	Hela-S3	cervix:	n/a	n/a
31	RAD21	chr6:27046498-27047047	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr6:27046720-27046870	GM12869	blood:	n/a	n/a
33	FOXM1	chr6:27046447-27047049	GM12878	blood:	n/a	n/a
34	HCFC1	chr6:27046581-27046931	K562	blood:	n/a	n/a
35	EBF1	chr6:27046362-27046993	GM12878	blood:	n/a	chr6:27046559-27046570
36	CTCF	chr6:27046720-27046870	NHEK	skin:	n/a	n/a
37	CTCF	chr6:27046660-27046810	GM12867	blood:	n/a	n/a
38	MAFK	chr6:27046654-27047025	K562	blood:	n/a	n/a
39	CTCF	chr6:27046720-27046870	HCT-116	colon:	n/a	n/a
40	CTCF	chr6:27046754-27046968	NHEK	skin:	n/a	n/a
41	CTCF	chr6:27046239-27047362	SK-N-SH	brain:	n/a	n/a
42	CTCF	chr6:27046719-27046990	Hela-S3	cervix:	n/a	n/a
43	RAD21	chr6:27046234-27047513	SK-N-SH	brain:	n/a	n/a
44	CTCF	chr6:27046738-27046996	ProgFib	skin:	n/a	n/a
45	CTCF	chr6:27046736-27046981	LNCaP	prostate:	n/a	n/a
46	CTCF	chr6:27046696-27047006	Medullo	brain:	n/a	n/a
47	RAD21	chr6:27046637-27047051	K562	blood:	n/a	n/a
48	RAD21	chr6:27046336-27047200	HCT-116	colon:	n/a	n/a
49	CTCF	chr6:27046617-27046988	Fibrobl	skin:	n/a	n/a
50	CCNT2	chr6:27046690-27046852	K562	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27037953..27040598-chr6:27044912..27046900,2	MCF-7	breast:
2	chr6:26596507..26599265-chr6:27045244..27047262,3	K562	blood:
3	chr6:26596507..26599265-chr6:27045244..27046828,2	K562	blood:
4	chr6:27043192..27047825-chr6:27099036..27106055,7	K562	blood:
5	chr6:27045716..27047825-chr6:27099036..27103328,4	K562	blood:
6	chr6:26985450..26988105-chr6:27045850..27047500,2	MCF-7	breast:
7	chr6:26607363..26608609-chr6:27046357..27047229,6	MCF-7	breast:
8	chr6:27038557..27041239-chr6:27046359..27048606,2	K562	blood:
9	chr6:26607293..26608283-chr6:27046032..27047188,9	K562	blood:
10	chr6:26053749..26055733-chr6:27045370..27048111,2	K562	blood:
11	chr6:26607360..26608160-chr6:27046500..27047206,2	MCF-7	breast:

No data

Variant related genes	Relation type
VN1R11P	TF binding region
ENSG00000146109	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000124635	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6916301	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6933999	0.93[ASN][1000 genomes]
rs73401108	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73401117	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7745603	0.93[ASN][1000 genomes]
rs7761889	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9379953	0.91[EUR][1000 genomes]
rs9467989	0.99[ASN][1000 genomes]
rs994690	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	esv2758038	chr6:26695219-27095714	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
3	esv2759410	chr6:26695219-27095714	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
4	nsv1029124	chr6:26825468-27109774	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	244 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27045800-27046800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:27046200-27047000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:27046200-27047000	Active TSS	H1 Cell Line	embryonic stem cell
4	chr6:27046200-27047000	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr6:27046200-27047000	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr6:27046200-27047000	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr6:27046200-27047000	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr6:27046200-27047000	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr6:27046200-27047000	Active TSS	A549	lung
10	chr6:27046200-27047000	Active TSS	K562	blood
11	chr6:27046200-27047200	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr6:27046400-27046800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
13	chr6:27046400-27046800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:27046400-27046800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
15	chr6:27046400-27046800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
16	chr6:27046400-27046800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
17	chr6:27046400-27046800	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
18	chr6:27046400-27046800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:27046400-27046800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:27046400-27046800	Bivalent/Poised TSS	Primary T killer memory cells from peripheral blood	blood
21	chr6:27046400-27046800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:27046400-27046800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:27046400-27046800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:27046400-27046800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:27046400-27046800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr6:27046400-27046800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:27046400-27046800	Flanking Active TSS	Liver	Liver
28	chr6:27046400-27046800	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr6:27046400-27046800	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr6:27046400-27046800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr6:27046400-27046800	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr6:27046400-27046800	Flanking Active TSS	Fetal Intestine Large	intestine
33	chr6:27046400-27046800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr6:27046400-27046800	Enhancers	Gastric	stomach
35	chr6:27046400-27046800	Active TSS	Lung	lung
36	chr6:27046400-27046800	Flanking Active TSS	HepG2	liver
37	chr6:27046400-27046800	Flanking Active TSS	HMEC	breast
38	chr6:27046400-27046800	Active TSS	HSMMtube	muscle
39	chr6:27046400-27046800	Flanking Active TSS	HUVEC	blood vessel
40	chr6:27046400-27046800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
41	chr6:27046400-27046800	Active TSS	NH-A	brain
42	chr6:27046400-27047000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr6:27046400-27047000	Active TSS	H9 Cell Line	embryonic stem cell
44	chr6:27046400-27047000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:27046400-27047000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr6:27046400-27047000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:27046400-27047000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr6:27046400-27047000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:27046400-27047000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
50	chr6:27046400-27047000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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