Variant report

Variant	rs57165913
Chromosome Location	chr11:17029927-17029928
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	CEBPB	chr11:17029625-17029959	HepG2	liver:	n/a	chr11:17029775-17029786
2	CEBPB	chr11:17029607-17029938	Hela-S3	cervix:	n/a	chr11:17029775-17029786
3	CEBPB	chr11:17029632-17029948	A549	lung:	n/a	chr11:17029775-17029786
4	CEBPB	chr11:17029603-17029969	MCF-7	breast:	n/a	chr11:17029775-17029786
5	CEBPB	chr11:17029631-17029945	IMR90	lung:	n/a	chr11:17029775-17029786

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17027622..17030583-chr11:17098379..17100590,2	K562	blood:

Variant related genes	Relation type
ENSG00000266493	TF binding region
ENSG00000110700	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs55749020	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55903519	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56410179	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6486338	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7103326	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7116064	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71484745	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7950504	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9783287	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv825771	chr11:17027229-17048360	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers 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	55 gene(s)	inside rSNPs	diseases
4	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17004800-17034200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:17006400-17034000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:17009400-17032600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:17009800-17030000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:17009800-17032600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:17009800-17032600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:17013400-17033800	Weak transcription	Brain Substantia Nigra	brain
8	chr11:17016400-17034600	Weak transcription	Aorta	Aorta
9	chr11:17016600-17030800	Weak transcription	Fetal Kidney	kidney
10	chr11:17018800-17032000	Weak transcription	Fetal Muscle Leg	muscle
11	chr11:17019000-17032600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:17019400-17034800	Weak transcription	Lung	lung
13	chr11:17019800-17034600	Weak transcription	Right Ventricle	heart
14	chr11:17021000-17034000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:17021000-17034200	Weak transcription	Colonic Mucosa	Colon
16	chr11:17021200-17034600	Weak transcription	Right Atrium	heart
17	chr11:17021400-17030400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:17022000-17034600	Weak transcription	Brain Angular Gyrus	brain
19	chr11:17023200-17032600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:17023200-17033600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:17025600-17032600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr11:17026800-17032200	Strong transcription	Fetal Intestine Small	intestine
23	chr11:17027800-17032800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:17028600-17032600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr11:17028800-17032600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:17028800-17033400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:17029000-17030200	Weak transcription	Psoas Muscle	Psoas
28	chr11:17029200-17030800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr11:17029200-17030800	Enhancers	Liver	Liver
30	chr11:17029400-17030000	Enhancers	Brain Anterior Caudate	brain
31	chr11:17029400-17030200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr11:17029400-17030800	Enhancers	Pancreas	Pancrea
33	chr11:17029600-17030000	Enhancers	Adipose Nuclei	Adipose
34	chr11:17029600-17030000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr11:17029600-17030400	Strong transcription	A549	lung
36	chr11:17029600-17030800	Strong transcription	Fetal Stomach	stomach
37	chr11:17029600-17030800	Enhancers	Gastric	stomach
38	chr11:17029600-17030800	Enhancers	Stomach Mucosa	stomach
39	chr11:17029600-17031400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:17029600-17031400	Strong transcription	Fetal Intestine Large	intestine
41	chr11:17029800-17030000	Genic enhancers	Esophagus	oesophagus
42	chr11:17029800-17030000	Enhancers	Left Ventricle	heart
43	chr11:17029800-17030800	Strong transcription	HepG2	liver
44	chr11:17029800-17031000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:17029800-17033400	Weak transcription	Rectal Mucosa Donor 31	rectum

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