Variant report

Variant	rs12118565
Chromosome Location	chr1:179788333-179788334
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	MAZ	chr1:179787784-179788422	K562	blood:	n/a	chr1:179788169-179788178
2	JUN	chr1:179787572-179788592	K562	blood:	n/a	chr1:179787988-179788000 chr1:179787991-179788002 chr1:179787891-179787903 chr1:179787833-179787844 chr1:179787988-179787999
3	TEAD4	chr1:179787774-179788390	K562	blood:	n/a	n/a
4	MYC	chr1:179787332-179788389	NB4	blood:	n/a	chr1:179788167-179788177 chr1:179788169-179788178
5	CBX3	chr1:179787720-179788429	K562	blood:	n/a	n/a
6	JUND	chr1:179787771-179788421	K562	blood:	n/a	chr1:179787988-179788000 chr1:179787991-179788002 chr1:179787891-179787903 chr1:179787833-179787844 chr1:179787988-179787999
7	RCOR1	chr1:179787748-179788350	K562	blood:	n/a	n/a
8	EP300	chr1:179787750-179788433	K562	blood:	n/a	n/a
9	BHLHE40	chr1:179787845-179788393	K562	blood:	n/a	n/a
10	MAX	chr1:179787736-179788434	NB4	blood:	n/a	chr1:179788167-179788177 chr1:179788169-179788178
11	YY1	chr1:179788122-179788374	K562	blood:	n/a	n/a
12	NR2F2	chr1:179787676-179788439	K562	blood:	n/a	n/a
13	ZBTB7A	chr1:179788132-179788390	K562	blood:	n/a	n/a
14	TBL1XR1	chr1:179787821-179788379	K562	blood:	n/a	n/a
15	MAX	chr1:179787787-179788405	K562	blood:	n/a	chr1:179788167-179788177 chr1:179788169-179788178
16	RCOR1	chr1:179787790-179788441	K562	blood:	n/a	n/a
17	MAFF	chr1:179788310-179788333	K562	blood:	n/a	n/a
18	ATF1	chr1:179787824-179788386	K562	blood:	n/a	n/a
19	E2F6	chr1:179788065-179788336	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:179788028..179789983-chr1:179795893..179797675,2	K562	blood:

Variant related genes	Relation type
ENSG00000229407	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10913892	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913893	1.00[CEU][hapmap];0.83[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142457	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142611	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7518566	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540487	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv1009961	chr1:179714247-179790110	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1011407	chr1:179733193-179799430	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv520418	chr1:179761601-179794602	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv519307	chr1:179766086-179795505	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1005808	chr1:179783922-179864710	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	nsv1005051	chr1:179785643-179861950	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179784800-179788400	Enhancers	Left Ventricle	heart
2	chr1:179785000-179788400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:179785000-179788600	Enhancers	Fetal Muscle Leg	muscle
4	chr1:179785000-179788800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr1:179785000-179788800	Weak transcription	Gastric	stomach
6	chr1:179786400-179788400	Enhancers	HSMM	muscle
7	chr1:179786400-179788400	Enhancers	NHDF-Ad	bronchial
8	chr1:179786600-179788400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:179786600-179788400	Bivalent Enhancer	Fetal Stomach	stomach
10	chr1:179786600-179788400	Enhancers	Ovary	ovary
11	chr1:179787000-179793000	Weak transcription	Spleen	Spleen
12	chr1:179787200-179788400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:179787200-179793400	Weak transcription	Right Atrium	heart
14	chr1:179787600-179788400	Flanking Active TSS	K562	blood
15	chr1:179787800-179788400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:179787800-179788400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:179787800-179788400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:179787800-179788400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:179788000-179788400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:179788000-179788400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr1:179788000-179788400	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr1:179788200-179788400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:179788200-179788400	Enhancers	Fetal Heart	heart
24	chr1:179788200-179788400	Bivalent Enhancer	Placenta	Placenta
25	chr1:179788200-179788400	Enhancers	NH-A	brain
26	chr1:179788200-179790600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:179788200-179794400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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