Variant report

Variant	rs6468868
Chromosome Location	chr8:104310109-104310110
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr8:104309722-104310555	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr8:104310033-104311905	MCF10A-Er-Src	breast:	n/a	n/a
3	PBX3	chr8:104309745-104310602	SK-N-SH	brain:	n/a	n/a
4	TCF12	chr8:104309764-104310638	SK-N-SH	brain:	n/a	n/a
5	TAF1	chr8:104310099-104310369	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr8:104309933-104310980	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr8:104309809-104310546	SK-N-SH	brain:	n/a	n/a
8	PBX3	chr8:104309879-104310479	SK-N-SH	brain:	n/a	n/a
9	TAF1	chr8:104309969-104310198	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr8:104309992-104311831	SK-N-SH	brain:	n/a	n/a
11	FOS	chr8:104310079-104310358	MCF10A-Er-Src	breast:	n/a	chr8:104310269-104310278
12	POLR2A	chr8:104309707-104313471	MCF10A-Er-Src	breast:	n/a	n/a
13	EP300	chr8:104309850-104310527	SK-N-SH	brain:	n/a	n/a
14	NFIC	chr8:104309808-104311827	SK-N-SH	brain:	n/a	n/a
15	TEAD4	chr8:104309787-104310563	SK-N-SH	brain:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:30192548..30194741-chr8:104308911..104311172,2	MCF-7	breast:
2	chr8:104303715..104305851-chr8:104308014..104310361,2	K562	blood:
3	chr8:104152186..104155681-chr8:104309748..104312108,3	MCF-7	breast:
4	chr1:156736343..156738985-chr8:104309679..104312476,2	MCF-7	breast:
5	chr8:104031977..104033590-chr8:104309490..104311650,2	MCF-7	breast:
6	chr8:104309661..104313454-chr8:104382208..104385836,8	MCF-7	breast:
7	chr8:104308989..104311574-chr8:104426420..104428349,3	MCF-7	breast:
8	chr8:104309966..104312210-chr8:104383451..104386900,3	MCF-7	breast:

No data

Variant related genes	Relation type
FZD6	TF binding region
ENSG00000164934	Chromatin interaction
ENSG00000155097	Chromatin interaction
ENSG00000236939	Chromatin interaction
ENSG00000164932	Chromatin interaction
ENSG00000164929	Chromatin interaction
ENSG00000164933	Chromatin interaction
ENSG00000125968	Chromatin interaction
ENSG00000143321	Chromatin interaction
ENSG00000143294	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs12156164	1.00[AFR][1000 genomes]
rs12680121	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1389689	1.00[AFR][1000 genomes]
rs1494279	1.00[AFR][1000 genomes]
rs1608184	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1610204	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16870276	1.00[AFR][1000 genomes]
rs16870349	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17207827	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17228576	1.00[CEU][hapmap]
rs17801975	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17802011	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17802089	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap]
rs2687347	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2687355	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2687367	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2917546	1.00[CEU][hapmap]
rs2917547	1.00[CEU][hapmap]
rs2917548	1.00[CEU][hapmap];1.00[CHD][hapmap]
rs2934725	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3098226	1.00[CEU][hapmap]
rs3134257	1.00[CEU][hapmap]
rs3134260	1.00[CEU][hapmap]
rs3134269	1.00[CEU][hapmap]
rs62525463	1.00[AFR][1000 genomes]
rs62525466	1.00[AFR][1000 genomes]
rs62525469	1.00[AFR][1000 genomes]
rs62525470	1.00[AFR][1000 genomes]
rs62527572	1.00[AFR][1000 genomes]
rs62527574	1.00[AFR][1000 genomes]
rs62527608	1.00[AFR][1000 genomes]
rs62527612	1.00[AFR][1000 genomes]
rs62527613	1.00[AFR][1000 genomes]
rs62528473	1.00[AFR][1000 genomes]
rs62528474	1.00[AFR][1000 genomes]
rs62528478	1.00[AFR][1000 genomes]
rs7005750	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs703808	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs703809	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7815503	1.00[AFR][1000 genomes]
rs827525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs827527	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs827529	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs827531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs827532	0.94[EUR][1000 genomes]
rs827542	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs827543	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs827544	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs827545	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs827548	0.94[AMR][1000 genomes]
rs827549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs827551	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs827553	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs827589	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs827591	0.89[AMR][1000 genomes]
rs827594	0.83[AMR][1000 genomes]
rs827600	0.83[AMR][1000 genomes]
rs860410	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs861169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1017326	chr8:104236193-104313235	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv1023181	chr8:104298542-104366365	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104306600-104310200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:104306600-104310200	Weak transcription	NHDF-Ad	bronchial
3	chr8:104306600-104310200	Weak transcription	NHLF	lung
4	chr8:104306600-104310600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:104307400-104310200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:104307400-104310400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:104308200-104310200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:104308600-104313800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:104308800-104312400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:104309200-104310200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:104309200-104310200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr8:104309800-104310200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:104309800-104310600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:104309800-104310800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:104309800-104311000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:104310000-104310200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
17	chr8:104310000-104310200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr8:104310000-104310200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:104310000-104310200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:104310000-104310200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:104310000-104310200	Enhancers	Adipose Nuclei	Adipose
22	chr8:104310000-104310200	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr8:104310000-104310200	Enhancers	Hela-S3	cervix
24	chr8:104310000-104310200	Enhancers	HMEC	breast
25	chr8:104310000-104310200	Enhancers	NH-A	brain
26	chr8:104310000-104310200	Enhancers	NHEK	skin
27	chr8:104310000-104310200	Enhancers	Osteobl	bone
28	chr8:104310000-104310400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:104310000-104310400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
30	chr8:104310000-104310400	Enhancers	Small Intestine	intestine
31	chr8:104310000-104310400	Bivalent Enhancer	HepG2	liver
32	chr8:104310000-104310600	Flanking Active TSS	Dnd41	blood
33	chr8:104310000-104310800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:104310000-104310800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:104310000-104311800	Active TSS	Rectal Smooth Muscle	rectum
36	chr8:104310000-104312000	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr8:104310000-104313400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:104310000-104313800	Active TSS	Aorta	Aorta

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