Variant report

Variant	rs34128710
Chromosome Location	chr1:159918871-159918872
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr1:159918826-159919401	ECC-1	luminal epithelium:	n/a	n/a
2	TAL1	chr1:159918786-159919093	K562	blood:	n/a	n/a
3	TCF12	chr1:159918770-159919424	ECC-1	luminal epithelium:	n/a	n/a
4	TEAD4	chr1:159918856-159919427	ECC-1	luminal epithelium:	n/a	n/a
5	MAFF	chr1:159918781-159919213	K562	blood:	n/a	n/a
6	TEAD4	chr1:159918844-159919408	ECC-1	luminal epithelium:	n/a	n/a
7	MAZ	chr1:159918867-159919063	K562	blood:	n/a	n/a
8	MAFK	chr1:159918814-159919096	K562	blood:	n/a	n/a
9	NFIC	chr1:159918645-159919527	ECC-1	luminal epithelium:	n/a	n/a
10	EP300	chr1:159918746-159919505	ECC-1	luminal epithelium:	n/a	chr1:159918863-159918872 chr1:159919435-159919445

No data

(count:3 , 50 per page) page: 1

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:

No data

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

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12065741	0.87[ASN][1000 genomes]
rs12144158	1.00[ASN][1000 genomes]
rs12732517	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12740563	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12759403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1344028	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2789426	1.00[ASN][1000 genomes]
rs2840590	0.87[ASN][1000 genomes]
rs34401812	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34702040	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35541552	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35622571	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35769623	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36082532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41265747	0.87[ASN][1000 genomes]
rs58872353	0.87[ASN][1000 genomes]
rs59673346	0.87[ASN][1000 genomes]
rs60537025	0.87[ASN][1000 genomes]
rs61734538	0.87[ASN][1000 genomes]
rs71628158	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71628159	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71628160	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71628161	1.00[AMR][1000 genomes]
rs71628162	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs71628163	0.87[ASN][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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159915800-159919600	Weak transcription	Lung	lung
2	chr1:159916200-159919000	Weak transcription	A549	lung
3	chr1:159916200-159919800	Enhancers	Fetal Intestine Small	intestine
4	chr1:159916200-159920000	Enhancers	Stomach Mucosa	stomach
5	chr1:159916200-159930600	Weak transcription	Right Atrium	heart
6	chr1:159916600-159919600	Weak transcription	Colonic Mucosa	Colon
7	chr1:159916600-159920800	Weak transcription	Fetal Lung	lung
8	chr1:159916800-159919000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:159916800-159919000	Weak transcription	Gastric	stomach
10	chr1:159916800-159919200	Weak transcription	HMEC	breast
11	chr1:159916800-159923600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:159917000-159919800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr1:159917000-159923400	Weak transcription	NHEK	skin
14	chr1:159917600-159919800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr1:159918000-159919800	Enhancers	Duodenum Mucosa	Duodenum
16	chr1:159918200-159919800	Enhancers	Fetal Intestine Large	intestine
17	chr1:159918600-159920000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:159918600-159920000	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr1:159918600-159920400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr1:159918600-159921400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr1:159918800-159919000	Enhancers	Rectal Smooth Muscle	rectum
22	chr1:159918800-159919200	Enhancers	Fetal Kidney	kidney
23	chr1:159918800-159919400	Enhancers	Placenta	Placenta
24	chr1:159918800-159919400	Enhancers	K562	blood
25	chr1:159918800-159919600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:159918800-159919600	Enhancers	Colon Smooth Muscle	Colon
27	chr1:159918800-159919600	Enhancers	Pancreas	Pancrea
28	chr1:159918800-159919800	Enhancers	Esophagus	oesophagus

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