Variant report

Variant	rs10923908
Chromosome Location	chr1:120358102-120358103
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPD	chr1:120358007-120358411	K562	blood:	n/a	n/a
2	FOS	chr1:120358089-120358236	MCF10A-Er-Src	breast:	n/a	n/a
3	EP300	chr1:120357888-120358459	SK-N-SH_RA	brain:	n/a	n/a
4	TAL1	chr1:120357966-120358313	K562	blood:	n/a	n/a
5	EP300	chr1:120357999-120358315	K562	blood:	n/a	n/a
6	TEAD4	chr1:120357864-120358406	K562	blood:	n/a	n/a
7	EP300	chr1:120358021-120358393	SK-N-SH_RA	brain:	n/a	n/a
8	CEBPD	chr1:120357873-120358432	K562	blood:	n/a	n/a
9	JUND	chr1:120358003-120358384	K562	blood:	n/a	n/a
10	PML	chr1:120358014-120358299	K562	blood:	n/a	n/a
11	ATF1	chr1:120357965-120358518	K562	blood:	n/a	n/a
12	PBX3	chr1:120357954-120358400	SK-N-SH	brain:	n/a	n/a
13	GATA2	chr1:120357945-120358342	K562	blood:	n/a	chr1:120358012-120358023
14	FOSL1	chr1:120358100-120358287	K562	blood:	n/a	n/a
15	JUN	chr1:120357986-120358596	K562	blood:	n/a	n/a
16	MAFK	chr1:120358029-120358281	IMR90	lung:	n/a	n/a
17	TEAD4	chr1:120357907-120358375	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:120358099..120360727-chr1:144531568..144534050,2	K562	blood:
2	chr1:120351738..120353782-chr1:120355581..120358346,2	K562	blood:
3	chr1:120333977..120336154-chr1:120357521..120360172,2	MCF-7	breast:
4	chr1:120351185..120352714-chr1:120356340..120358363,2	MCF-7	breast:

No data

Variant related genes	Relation type
REG4	TF binding region
ENSG00000134193	Chromatin interaction
ENSG00000201699	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10158823	0.82[YRI][hapmap]
rs10923913	0.89[AMR][1000 genomes]
rs12066617	0.87[AMR][1000 genomes]
rs1341408	0.89[AMR][1000 genomes]
rs17024340	0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17038441	0.84[YRI][hapmap]
rs6666925	0.87[YRI][hapmap];0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv831215	chr1:120266449-120448469	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv915933	chr1:120323527-120471049	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv831226	chr1:120331599-120471049	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv947316	chr1:120355309-120362730	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120354600-120358400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:120354800-120358600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:120355600-120358800	Weak transcription	Liver	Liver
4	chr1:120356600-120361200	Enhancers	Fetal Intestine Small	intestine
5	chr1:120356800-120358600	Enhancers	Fetal Heart	heart
6	chr1:120356800-120359600	Enhancers	Stomach Mucosa	stomach
7	chr1:120356800-120359800	Enhancers	HMEC	breast
8	chr1:120356800-120361000	Enhancers	Fetal Intestine Large	intestine
9	chr1:120356800-120361200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr1:120357000-120359400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:120357000-120359600	Enhancers	HSMM	muscle
12	chr1:120357000-120359800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:120357000-120359800	Enhancers	NHEK	skin
14	chr1:120357000-120360800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:120357200-120361000	Enhancers	HepG2	liver
16	chr1:120357400-120358400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:120357600-120358400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:120357600-120359600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:120357600-120359600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:120357800-120358600	Enhancers	HSMMtube	muscle
21	chr1:120357800-120359400	Enhancers	NH-A	brain
22	chr1:120357800-120359800	Enhancers	K562	blood
23	chr1:120358000-120359000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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