Variant report

Variant	rs6695423
Chromosome Location	chr1:75603101-75603102
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr1:75602754-75603268	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr1:75602577-75603139	H1-hESC	embryonic stem cell:	n/a	chr1:75602706-75602720
3	BACH1	chr1:75601856-75603352	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZNF263	chr1:75601658-75603272	HEK293-T-REx	kidney:	n/a	chr1:75602262-75602283 chr1:75602739-75602748
5	MAX	chr1:75602003-75603120	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTBP2	chr1:75601671-75603505	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr1:75602979-75603339	A549	lung:	n/a	n/a
8	MAX	chr1:75602708-75603203	H1-hESC	embryonic stem cell:	n/a	n/a
9	SUZ12	chr1:75601965-75603504	NT2-D1	testis:	n/a	n/a
10	CEBPB	chr1:75603045-75603238	H1-hESC	embryonic stem cell:	n/a	n/a
11	SUZ12	chr1:75602710-75603207	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr1:75602979-75603323	U87	brain:	n/a	n/a
13	CEBPB	chr1:75602995-75603314	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000224149	TF binding region
ENSG00000224127	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10493561	1.00[CHB][hapmap]
rs10493570	1.00[CHB][hapmap]
rs12129029	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129158	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129193	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132601	1.00[CHB][hapmap]
rs12133614	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138223	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142460	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12723906	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12726443	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12729173	1.00[ASN][1000 genomes]
rs12732329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12741928	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12751207	1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1319656	1.00[CHB][hapmap]
rs1405312	1.00[CHB][hapmap]
rs1526502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1526510	1.00[ASN][1000 genomes]
rs1526511	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1852348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1852349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs188127	1.00[ASN][1000 genomes]
rs280894	1.00[ASN][1000 genomes]
rs35453094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs427227	1.00[ASN][1000 genomes]
rs432933	1.00[ASN][1000 genomes]
rs4949821	1.00[CHB][hapmap]
rs56661363	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs607167	1.00[CHB][hapmap]
rs610159	1.00[CHB][hapmap]
rs6681258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689348	1.00[ASN][1000 genomes]
rs677470	1.00[CHB][hapmap]
rs679258	1.00[CHB][hapmap]
rs684117	1.00[CHB][hapmap]
rs71500673	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524020	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs795569	1.00[ASN][1000 genomes]
rs795571	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871743	chr1:75235082-75714554	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3368999	chr1:75524762-75933220	Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75598800-75603200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:75598800-75603600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:75599600-75603400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr1:75600200-75603200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr1:75600600-75603800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr1:75601400-75603200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
7	chr1:75601400-75603200	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr1:75601400-75603200	Bivalent Enhancer	Lung	lung
9	chr1:75601600-75603200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr1:75602400-75603200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:75602400-75603200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:75602400-75603200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:75602400-75603200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr1:75602600-75604800	Weak transcription	Right Atrium	heart
15	chr1:75602800-75603200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:75602800-75603400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
17	chr1:75602800-75603400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
18	chr1:75602800-75603400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
19	chr1:75602800-75603400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
20	chr1:75602800-75603400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
21	chr1:75602800-75603400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:75603000-75603200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:75603000-75603200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:75603000-75603200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:75603000-75603200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:75603000-75603200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:75603000-75603200	Bivalent Enhancer	Adipose Nuclei	Adipose
28	chr1:75603000-75603400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:75603000-75603400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
30	chr1:75603000-75603400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell

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