Variant report

Variant	rs833069
Chromosome Location	chr6:43742579-43742580
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:242)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:242 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF4	chr6:43742432-43742902	GM12878	blood:	n/a	n/a
2	CTCF	chr6:43742540-43742690	NHDF-neo	bronchial:	n/a	n/a
3	RAD21	chr6:43742347-43742883	HepG2	liver:	n/a	n/a
4	SP1	chr6:43742420-43742919	A549	lung:	n/a	chr6:43742606-43742617
5	ELF1	chr6:43742532-43742852	K562	blood:	n/a	n/a
6	POLR2A	chr6:43737140-43743129	Hela-S3	cervix:	n/a	n/a
7	YY1	chr6:43742457-43742869	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:43742213-43744407	K562	blood:	n/a	n/a
9	CTCF	chr6:43742358-43743096	K562	blood:	n/a	n/a
10	CTCF	chr6:43742560-43742710	HVMF	connective:	n/a	n/a
11	CTCF	chr6:43742528-43742801	LNCaP	prostate:	n/a	n/a
12	SMC3	chr6:43736561-43743761	SK-N-SH	brain:	n/a	chr6:43739308-43739322 chr6:43737366-43737380 chr6:43737167-43737181
13	CTCF	chr6:43742560-43742710	BE2_C	brain:	n/a	n/a
14	RAD21	chr6:43742452-43742965	MCF-7	breast:	n/a	n/a
15	YY1	chr6:43742534-43742790	K562	blood:	n/a	n/a
16	CTCF	chr6:43742525-43742784	ProgFib	skin:	n/a	n/a
17	CTCF	chr6:43742442-43742913	IMR90	lung:	n/a	n/a
18	BHLHE40	chr6:43742546-43742839	GM12878	blood:	n/a	n/a
19	RAD21	chr6:43742367-43742935	A549	lung:	n/a	n/a
20	SIN3AK20	chr6:43742536-43742848	PFSK-1	brain:	n/a	n/a
21	CTCF	chr6:43742560-43742710	GM12867	blood:	n/a	n/a
22	NFIC	chr6:43742452-43742843	HepG2	liver:	n/a	n/a
23	EBF1	chr6:43742308-43742935	GM12878	blood:	n/a	chr6:43742761-43742772
24	MYBL2	chr6:43741821-43742917	HepG2	liver:	n/a	n/a
25	CTCF	chr6:43742560-43742710	HEEpiC	esophagus:	n/a	n/a
26	MXI1	chr6:43742403-43742790	K562	blood:	n/a	n/a
27	SP1	chr6:43742394-43742819	H1-hESC	embryonic stem cell:	n/a	chr6:43742606-43742617
28	CTCF	chr6:43742418-43742913	H1-hESC	embryonic stem cell:	n/a	n/a
29	SMC3	chr6:43742465-43742863	GM12878	blood:	n/a	n/a
30	RAD21	chr6:43742307-43743008	HCT-116	colon:	n/a	n/a
31	CTCF	chr6:43742536-43742769	SK-N-SH_RA	brain:	n/a	n/a
32	CCNT2	chr6:43742505-43742873	K562	blood:	n/a	n/a
33	TBL1XR1	chr6:43742544-43742773	K562	blood:	n/a	n/a
34	MAZ	chr6:43742406-43742913	K562	blood:	n/a	n/a
35	ZNF143	chr6:43742485-43742839	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr6:43737070-43746379	PFSK-1	brain:	n/a	n/a
37	RCOR1	chr6:43742539-43742707	HepG2	liver:	n/a	n/a
38	CBX3	chr6:43742542-43742820	K562	blood:	n/a	n/a
39	CTCF	chr6:43742529-43742768	Lung_OC	lung:	n/a	n/a
40	CTCF	chr6:43742560-43742710	HRPEpiC	eye:	n/a	n/a
41	CTCF	chr6:43742420-43742851	K562	blood:	n/a	n/a
42	CTCF	chr6:43742257-43742992	HCT-116	colon:	n/a	n/a
43	POLR2A	chr6:43742504-43744575	K562	blood:	n/a	n/a
44	ZNF263	chr6:43741879-43742990	HEK293-T-REx	kidney:	n/a	chr6:43742242-43742263 chr6:43742212-43742233
45	JUND	chr6:43742535-43742821	K562	blood:	n/a	n/a
46	HEY1	chr6:43742537-43742987	K562	blood:	n/a	n/a
47	CTCF	chr6:43742396-43742753	GM20000	blood:	n/a	n/a
48	CTCF	chr6:43742560-43742710	NHLF	lung:	n/a	n/a
49	EGR1	chr6:43742565-43742768	GM12878	blood:	n/a	n/a
50	TBL1XR1	chr6:43742531-43742821	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:43742204..43743103-chr6:44041828..44042522,3	K562	blood:
2	chr6:43742162..43743417-chr6:44046432..44047565,6	K562	blood:
3	chr6:43595036..43601855-chr6:43735920..43743852,18	K562	blood:
4	chr6:43592224..43600252-chr6:43737312..43744228,11	MCF-7	breast:
5	chr6:43742231..43743744-chr6:43805695..43806498,4	MCF-7	breast:
6	chr6:43591688..43594576-chr6:43742532..43744832,2	K562	blood:
7	chr6:43736441..43745894-chr6:44037513..44049664,39	K562	blood:
8	chr6:43736340..43742918-chr6:44039360..44044949,13	MCF-7	breast:
9	chr6:43594866..43599640-chr6:43736940..43745540,22	K562	blood:
10	chr6:43730164..43744120-chr6:44034600..44052665,50	K562	blood:
11	chr6:43742390..43743171-chr6:44046723..44047462,3	MCF-7	breast:
12	chr6:43742173..43742914-chr6:43785009..43785735,3	MCF-7	breast:
13	chr6:43742218..43743145-chr6:43805614..43806325,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272114	TF binding region
VEGFA	TF binding region
ENSG00000231881	Chromatin interaction
ENSG00000172432	Chromatin interaction
ENSG00000124688	Chromatin interaction
ENSG00000237686	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2010963	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3024997	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3024998	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3025000	0.96[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs699946	0.84[CHD][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs735286	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs833060	0.83[CEU][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs833068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs865577	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869383	chr6:43505094-43752189	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS 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	201 gene(s)	inside rSNPs	diseases
3	nsv1018626	chr6:43694649-43803732	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv885848	chr6:43732669-43753051	Genic enhancers Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv3331607	chr6:43734924-43742622	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:43738200-43744000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
2	chr6:43739800-43742600	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr6:43739800-43743000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr6:43739800-43743000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
5	chr6:43739800-43743200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:43739800-43743200	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr6:43739800-43743200	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
8	chr6:43739800-43743200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr6:43739800-43743200	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr6:43739800-43743200	Transcr. at gene 5' and 3'	K562	blood
11	chr6:43739800-43743200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr6:43739800-43743400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:43739800-43743400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:43739800-43743600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:43739800-43744000	Transcr. at gene 5' and 3'	Osteobl	bone
16	chr6:43740000-43742600	Transcr. at gene 5' and 3'	NHEK	skin
17	chr6:43740000-43743000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:43740000-43743200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr6:43740000-43743200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
20	chr6:43740200-43743000	Transcr. at gene 5' and 3'	HMEC	breast
21	chr6:43740200-43743200	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr6:43740200-43744400	Enhancers	Primary hematopoietic stem cells	blood
23	chr6:43740200-43748000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr6:43740200-43752200	Weak transcription	Aorta	Aorta
25	chr6:43740400-43742600	Flanking Active TSS	A549	lung
26	chr6:43740400-43743400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:43740400-43743400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:43740600-43742600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:43740600-43743000	Enhancers	HUVEC	blood vessel
30	chr6:43740600-43744400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:43740600-43745400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
32	chr6:43740800-43743200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr6:43740800-43743200	Enhancers	Ovary	ovary
34	chr6:43740800-43743600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:43740800-43743600	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr6:43740800-43743600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:43740800-43755600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr6:43741000-43743000	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr6:43741200-43742600	Flanking Active TSS	Fetal Heart	heart
40	chr6:43741200-43742800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr6:43741200-43742800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:43741200-43742800	Flanking Active TSS	Liver	Liver
43	chr6:43741200-43742800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr6:43741200-43743200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr6:43741200-43743200	Bivalent Enhancer	Placenta	Placenta
46	chr6:43741200-43743400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr6:43741200-43743400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:43741400-43742800	Enhancers	Brain Anterior Caudate	brain
49	chr6:43741400-43743000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr6:43741400-43743000	Flanking Active TSS	Stomach Mucosa	stomach

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