Variant report

Variant	rs71628158
Chromosome Location	chr1:159919448-159919449
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	NFIC	chr1:159918645-159919527	ECC-1	luminal epithelium:	n/a	n/a
2	EP300	chr1:159918746-159919505	ECC-1	luminal epithelium:	n/a	chr1:159918863-159918872 chr1:159919435-159919445

No.	Distal block	Cell Line	Cell type
1	chr1:159906196..159907844-chr1:159918689..159920496,2	K562	blood:
2	chr1:159914087..159917108-chr1:159918737..159921842,4	K562	blood:
3	chr1:159912050..159914185-chr1:159918859..159921422,2	MCF-7	breast:

Variant related genes	Relation type
IGSF9	TF binding region
ENSG00000085552	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12732517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12740563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12759403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1344028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34128710	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34401812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34702040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35541552	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35622571	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs35769623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36082532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71628159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71628160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71628161	1.00[AMR][1000 genomes]
rs71628162	1.00[AFR][1000 genomes];0.89[AMR][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	nsv872489	chr1:159844819-159940000	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv524006	chr1:159886422-159923111	Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv548055	chr1:159918418-159940000	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159915800-159919600	Weak transcription	Lung	lung
2	chr1:159916200-159919800	Enhancers	Fetal Intestine Small	intestine
3	chr1:159916200-159920000	Enhancers	Stomach Mucosa	stomach
4	chr1:159916200-159930600	Weak transcription	Right Atrium	heart
5	chr1:159916600-159919600	Weak transcription	Colonic Mucosa	Colon
6	chr1:159916600-159920800	Weak transcription	Fetal Lung	lung
7	chr1:159916800-159923600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:159917000-159919800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:159917000-159923400	Weak transcription	NHEK	skin
10	chr1:159917600-159919800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr1:159918000-159919800	Enhancers	Duodenum Mucosa	Duodenum
12	chr1:159918200-159919800	Enhancers	Fetal Intestine Large	intestine
13	chr1:159918600-159920000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:159918600-159920000	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr1:159918600-159920400	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr1:159918600-159921400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr1:159918800-159919600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:159918800-159919600	Enhancers	Colon Smooth Muscle	Colon
19	chr1:159918800-159919600	Enhancers	Pancreas	Pancrea
20	chr1:159918800-159919800	Enhancers	Esophagus	oesophagus
21	chr1:159919000-159919600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:159919000-159920000	Enhancers	Fetal Stomach	stomach
23	chr1:159919200-159919800	Weak transcription	Gastric	stomach
24	chr1:159919200-159920200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr1:159919400-159923600	Weak transcription	K562	blood

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