Variant report

Variant	rs6604046
Chromosome Location	chr1:92062140-92062141
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr1:92062081-92062362	K562	blood:	n/a	n/a
2	EP300	chr1:92061995-92062441	K562	blood:	n/a	n/a
3	ATF3	chr1:92062109-92062316	K562	blood:	n/a	n/a
4	GATA2	chr1:92062018-92062508	K562	blood:	n/a	n/a
5	ATF3	chr1:92062075-92062415	K562	blood:	n/a	n/a
6	IRF1	chr1:92062041-92062365	K562	blood:	n/a	n/a
7	JUN	chr1:92062052-92062411	K562	blood:	n/a	n/a
8	IRF1	chr1:92061888-92062346	K562	blood:	n/a	n/a
9	TBL1XR1	chr1:92062083-92062626	K562	blood:	n/a	n/a
10	JUN	chr1:92062033-92062419	K562	blood:	n/a	n/a
11	JUN	chr1:92060640-92062707	K562	blood:	n/a	n/a
12	JUND	chr1:92062034-92062424	K562	blood:	n/a	n/a
13	RCOR1	chr1:92062044-92062458	K562	blood:	n/a	n/a
14	CUX1	chr1:92062138-92062409	K562	blood:	n/a	n/a
15	CEBPB	chr1:92062090-92062344	Hela-S3	cervix:	n/a	n/a
16	MAFK	chr1:92062107-92062339	IMR90	lung:	n/a	n/a
17	CEBPB	chr1:92062041-92062417	K562	blood:	n/a	n/a
18	FOS	chr1:92062062-92062400	MCF10A-Er-Src	breast:	n/a	n/a
19	MAFF	chr1:92062033-92062361	K562	blood:	n/a	n/a
20	FOS	chr1:92062072-92062368	MCF10A-Er-Src	breast:	n/a	n/a
21	GATA1	chr1:92061555-92062884	PBDE	blood:	n/a	n/a
22	JUN	chr1:92062073-92062684	K562	blood:	n/a	n/a
23	CEBPB	chr1:92062079-92062348	IMR90	lung:	n/a	n/a
24	MAFK	chr1:92062073-92062333	Hela-S3	cervix:	n/a	n/a
25	TAL1	chr1:92062128-92062355	K562	blood:	n/a	n/a
26	MAFK	chr1:92062038-92062359	K562	blood:	n/a	n/a
27	MYC	chr1:92062112-92062334	K562	blood:	n/a	n/a
28	CEBPB	chr1:92061977-92062416	K562	blood:	n/a	n/a
29	FOS	chr1:92062054-92062368	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr1:92062060-92062415	MCF10A-Er-Src	breast:	n/a	n/a
31	ARID3A	chr1:92061893-92062464	K562	blood:	n/a	n/a
32	FOSL1	chr1:92062039-92062452	K562	blood:	n/a	n/a
33	CEBPB	chr1:92062122-92062318	K562	blood:	n/a	n/a
34	BHLHE40	chr1:92061912-92062196	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:92060019..92063789-chr1:92065058..92070338,4	K562	blood:
2	chr1:92038932..92042320-chr1:92059008..92062228,3	K562	blood:
3	chr1:92049054..92051542-chr1:92061265..92062961,2	K562	blood:
4	chr1:91999544..92001051-chr1:92060316..92062281,2	K562	blood:
5	chr1:91869482..91871646-chr1:92060794..92063314,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000229067	TF binding region
ENSG00000162669	Chromatin interaction
ENSG00000229067	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10493855	0.90[ASN][1000 genomes]
rs11164971	0.82[ASN][1000 genomes]
rs17131500	0.90[ASN][1000 genomes]
rs17503335	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1848435	0.82[ASN][1000 genomes]
rs4658238	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs4658241	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4658243	0.83[EUR][1000 genomes]
rs56034708	0.97[ASN][1000 genomes]
rs6659090	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv946071	chr1:92060669-92067233	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92051800-92067600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:92055800-92076400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:92056000-92062200	Enhancers	Fetal Heart	heart
4	chr1:92057200-92070400	Weak transcription	Psoas Muscle	Psoas
5	chr1:92057600-92063400	Enhancers	K562	blood
6	chr1:92059600-92066200	Weak transcription	Fetal Stomach	stomach
7	chr1:92059600-92067200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:92059800-92068800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:92060600-92067200	Weak transcription	Lung	lung
10	chr1:92060600-92070200	Weak transcription	Right Ventricle	heart
11	chr1:92060800-92062600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:92060800-92066400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr1:92060800-92066400	Weak transcription	Right Atrium	heart
14	chr1:92060800-92067200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:92060800-92067600	Weak transcription	Left Ventricle	heart
16	chr1:92060800-92070200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:92061200-92063000	Enhancers	NHDF-Ad	bronchial
18	chr1:92061200-92070000	Weak transcription	Ovary	ovary
19	chr1:92061400-92062400	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr1:92061400-92063200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:92061600-92062200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:92061600-92062400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:92061600-92063400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:92061800-92062200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr1:92061800-92062200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr1:92061800-92064400	Weak transcription	Placenta	Placenta

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