Variant report

Variant	rs2893264
Chromosome Location	chr1:94477278-94477279
allele	C/T
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	ZNF143	chr1:94476969-94477382	H1-hESC	embryonic stem cell:	n/a	chr1:94477098-94477113
2	E2F6	chr1:94477037-94479451	H1-hESC	embryonic stem cell:	n/a	n/a
3	TEAD4	chr1:94477129-94477601	H1-hESC	embryonic stem cell:	n/a	chr1:94477363-94477372
4	TCF12	chr1:94477266-94477525	H1-hESC	embryonic stem cell:	n/a	n/a
5	TEAD4	chr1:94477161-94477585	H1-hESC	embryonic stem cell:	n/a	chr1:94477363-94477372

Variant related genes	Relation type
ABCA4	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11165062	0.84[AFR][1000 genomes]
rs11165063	0.84[AFR][1000 genomes]
rs1800739	0.80[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1801574	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2065711	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2065712	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2275029	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2275031	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2275032	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3789377	0.80[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3789379	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3789382	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3789383	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3789384	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3789385	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs3789386	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4147856	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4147857	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4147862	0.80[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs4147863	0.97[ASN][1000 genomes]
rs537831	0.82[EUR][1000 genomes]
rs61782237	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531001	0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516137	chr1:94404238-94504545	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94471200-94480600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:94475400-94477400	Weak transcription	Osteobl	bone
3	chr1:94475400-94485600	Weak transcription	NH-A	brain
4	chr1:94475600-94478200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:94476200-94477400	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr1:94476200-94477600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:94476400-94479000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:94476400-94479200	Enhancers	Fetal Muscle Trunk	muscle
9	chr1:94476400-94479400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:94476400-94480000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:94476600-94479400	Enhancers	Placenta	Placenta
12	chr1:94476600-94479600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:94476800-94478600	Enhancers	Fetal Muscle Leg	muscle
14	chr1:94476800-94479200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:94476800-94480400	Enhancers	Fetal Intestine Large	intestine
16	chr1:94477000-94477400	Enhancers	HepG2	liver
17	chr1:94477000-94477600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
18	chr1:94477000-94478600	Enhancers	Ovary	ovary
19	chr1:94477000-94479000	Enhancers	Right Atrium	heart
20	chr1:94477000-94479400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr1:94477000-94479800	Enhancers	Fetal Intestine Small	intestine
22	chr1:94477000-94481600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:94477200-94477400	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr1:94477200-94478000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr1:94477200-94478200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
26	chr1:94477200-94478600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
27	chr1:94477200-94479200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:94477200-94479200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:94477200-94480400	Weak transcription	HMEC	breast

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