Variant report

Variant	rs17123842
Chromosome Location	chr11:120176189-120176190
allele	A/G
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	EGR1	chr11:120176004-120176218	K562	blood:	n/a	chr11:120176145-120176155 chr11:120176146-120176155 chr11:120176143-120176156 chr11:120176143-120176156 chr11:120176145-120176155 chr11:120176143-120176157

No.	Distal block	Cell Line	Cell type
1	chr11:120101055..120116563-chr11:120160593..120179156,52	K562	blood:
2	chr11:120171583..120174537-chr11:120174642..120177317,2	MCF-7	breast:
3	chr11:120173473..120178843-chr11:120183667..120189130,9	MCF-7	breast:
4	chr11:120174600..120176592-chr11:120196059..120198854,2	K562	blood:
5	chr11:120104420..120112680-chr11:120168705..120181524,41	K562	blood:
6	chr11:120104320..120113596-chr11:120167938..120177639,38	MCF-7	breast:
7	chr11:120106492..120108262-chr11:120175100..120176692,2	MCF-7	breast:

Variant related genes	Relation type
POU2F3	TF binding region
ENSG00000137709	Chromatin interaction
ENSG00000181264	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17123847	1.00[AMR][1000 genomes]
rs17123906	1.00[AMR][1000 genomes]
rs17123921	1.00[AMR][1000 genomes]
rs17123960	1.00[AMR][1000 genomes]
rs7943018	1.00[AMR][1000 genomes]
rs7944855	1.00[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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv522706	chr11:120173845-120178632	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120169600-120178200	Enhancers	Placenta	Placenta
2	chr11:120170800-120176200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr11:120170800-120176200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:120172000-120177600	Enhancers	Stomach Mucosa	stomach
5	chr11:120172200-120177600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr11:120172400-120178200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:120173200-120176800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:120173200-120181200	Weak transcription	Fetal Intestine Large	intestine
9	chr11:120173400-120176200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:120173400-120177000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:120173800-120177800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr11:120173800-120177800	Weak transcription	Lung	lung
13	chr11:120173800-120181200	Weak transcription	Fetal Intestine Small	intestine
14	chr11:120174200-120177200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:120174400-120176400	Enhancers	GM12878-XiMat	blood
16	chr11:120174600-120178000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:120174600-120178000	Enhancers	HMEC	breast
18	chr11:120174800-120178000	Enhancers	Hela-S3	cervix
19	chr11:120174800-120178200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr11:120175000-120178400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:120175200-120176400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr11:120175400-120178000	Enhancers	NH-A	brain
23	chr11:120175400-120178200	Enhancers	NHLF	lung
24	chr11:120175400-120179200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:120175600-120177000	Weak transcription	HSMMtube	muscle
26	chr11:120175800-120176200	Enhancers	A549	lung
27	chr11:120175800-120176400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:120175800-120176400	Enhancers	Pancreas	Pancrea
29	chr11:120175800-120176400	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr11:120175800-120176600	Enhancers	Colonic Mucosa	Colon
31	chr11:120175800-120176600	Enhancers	Duodenum Mucosa	Duodenum
32	chr11:120175800-120177200	Enhancers	Gastric	stomach
33	chr11:120175800-120178000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:120175800-120178000	Enhancers	Esophagus	oesophagus
35	chr11:120175800-120178200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr11:120176000-120177000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:120176000-120177200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:120176000-120178000	Enhancers	NHEK	skin
39	chr11:120176000-120183600	Weak transcription	Small Intestine	intestine

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