Variant report

Variant	rs17134242
Chromosome Location	chr5:111541360-111541361
allele	C/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	NR2F2	chr5:111541360-111541986	K562	blood:	n/a	n/a
2	SP1	chr5:111541359-111541966	H1-hESC	embryonic stem cell:	n/a	chr5:111541865-111541878
3	GATA1	chr5:111541295-111542225	PBDE	blood:	n/a	chr5:111541834-111541844
4	POLR2A	chr5:111541232-111541901	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111495904..111497786-chr5:111539852..111541904,2	K562	blood:

Variant related genes	Relation type
EPB41L4A	TF binding region
ENSG00000224032	Chromatin interaction
ENSG00000238363	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17134229	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17134238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17134245	1.00[AMR][1000 genomes]
rs17134320	1.00[EUR][1000 genomes]
rs17134328	1.00[EUR][1000 genomes]
rs17134339	1.00[EUR][1000 genomes]
rs17134370	1.00[EUR][1000 genomes]
rs17134418	1.00[EUR][1000 genomes]
rs2140624	1.00[EUR][1000 genomes]
rs35368801	1.00[EUR][1000 genomes]
rs4130531	1.00[EUR][1000 genomes]
rs57449938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59413146	1.00[EUR][1000 genomes]
rs59723280	1.00[EUR][1000 genomes]
rs59728660	1.00[EUR][1000 genomes]
rs61620009	1.00[EUR][1000 genomes]
rs6875983	1.00[EUR][1000 genomes]
rs73214232	1.00[EUR][1000 genomes]
rs73787780	1.00[EUR][1000 genomes]
rs821737	1.00[EUR][1000 genomes]
rs821740	1.00[EUR][1000 genomes]
rs821741	1.00[EUR][1000 genomes]
rs821742	1.00[EUR][1000 genomes]
rs821743	1.00[EUR][1000 genomes]
rs866597	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh 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	26 gene(s)	inside rSNPs	diseases
4	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv599371	chr5:111519018-111676755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 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	chr5:111501400-111546400	Weak transcription	Spleen	Spleen
2	chr5:111502400-111546400	Weak transcription	Aorta	Aorta
3	chr5:111502800-111546000	Weak transcription	Ovary	ovary
4	chr5:111504800-111541400	Weak transcription	Right Ventricle	heart
5	chr5:111504800-111557800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:111504800-111586400	Weak transcription	Gastric	stomach
7	chr5:111505600-111541800	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:111510800-111547400	Weak transcription	HUVEC	blood vessel
9	chr5:111519000-111546400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:111519200-111553800	Weak transcription	Pancreas	Pancrea
11	chr5:111519800-111553600	Weak transcription	Esophagus	oesophagus
12	chr5:111529800-111553600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:111535000-111541800	Weak transcription	Fetal Brain Female	brain
14	chr5:111536400-111541600	Weak transcription	Fetal Stomach	stomach
15	chr5:111538000-111541800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr5:111538000-111553400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:111538200-111543200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:111538200-111546400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr5:111538600-111541400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:111538600-111541800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:111538600-111544800	Weak transcription	Fetal Kidney	kidney
22	chr5:111538600-111563600	Weak transcription	Lung	lung
23	chr5:111538800-111541600	Weak transcription	Adipose Nuclei	Adipose
24	chr5:111538800-111541600	Weak transcription	Left Ventricle	heart
25	chr5:111539000-111553600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:111539400-111553200	Weak transcription	NHEK	skin
27	chr5:111540000-111541400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr5:111540000-111541400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr5:111540000-111541400	Enhancers	K562	blood
30	chr5:111540000-111542600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:111540200-111542000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:111540400-111544400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:111540400-111553600	Weak transcription	Fetal Heart	heart
34	chr5:111540600-111541800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:111540600-111542200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:111540600-111542400	Weak transcription	Placenta	Placenta
37	chr5:111540800-111541400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr5:111541000-111541400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr5:111541000-111541800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:111541000-111541800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:111541000-111541800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr5:111541200-111541800	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr5:111541200-111541800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr5:111541200-111542000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr5:111541200-111542400	Enhancers	Hela-S3	cervix

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