Variant report

Variant	rs11741333
Chromosome Location	chr5:112631828-112631829
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	CTCF	chr5:112631700-112631850	HPAF	blood vessel:	n/a	n/a
2	RAD21	chr5:112631606-112631860	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr5:112631645-112631851	SK-N-SH_RA	brain:	n/a	n/a
4	RAD21	chr5:112631661-112631914	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr5:112631820-112631970	BE2_C	brain:	n/a	n/a
6	CTCF	chr5:112631700-112631850	HCPEpiC	choroid plexus:	n/a	n/a
7	CTCF	chr5:112631710-112631830	Medullo	brain:	n/a	n/a
8	CTCF	chr5:112631720-112631870	WERI-Rb-1	eye:	n/a	n/a
9	CTCF	chr5:112631780-112631930	HEEpiC	esophagus:	n/a	n/a

Variant related genes	Relation type
MCC	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10055089	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10056847	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10068622	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10900683	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11241198	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11744824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956139	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13182478	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13182700	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1838204	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1838205	0.97[ASN][1000 genomes]
rs1873927	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34512273	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4108701	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4108702	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6594699	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7729163	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs971372	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1018078	chr5:112615220-112657404	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 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	chr5:112630800-112632200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:112631000-112632000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
3	chr5:112631000-112632000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:112631000-112632200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:112631200-112632000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:112631200-112632200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:112631200-112632200	Enhancers	H9 Cell Line	embryonic stem cell
8	chr5:112631200-112632200	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr5:112631200-112632200	Enhancers	Fetal Lung	lung
10	chr5:112631200-112632400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:112631200-112632400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:112631200-112632600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:112631200-112633000	Enhancers	HMEC	breast
14	chr5:112631200-112633000	Enhancers	NHEK	skin
15	chr5:112631200-112633200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:112631400-112632000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:112631400-112632000	Enhancers	Brain Cingulate Gyrus	brain
18	chr5:112631400-112632000	Enhancers	NHDF-Ad	bronchial
19	chr5:112631400-112632200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:112631400-112632200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
21	chr5:112631400-112632200	Enhancers	Ovary	ovary
22	chr5:112631400-112632200	Weak transcription	Right Ventricle	heart
23	chr5:112631400-112632400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr5:112631400-112632400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
25	chr5:112631400-112632400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:112631400-112632400	Enhancers	Stomach Smooth Muscle	stomach
27	chr5:112631400-112632600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:112631400-112632600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:112631400-112632800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:112631400-112632800	Enhancers	Fetal Heart	heart
31	chr5:112631600-112632000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
32	chr5:112631600-112632000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:112631600-112632000	Weak transcription	Right Atrium	heart
34	chr5:112631600-112632200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:112631600-112632600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:112631800-112632400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr5:112631800-112632400	Enhancers	Left Ventricle	heart
38	chr5:112631800-112632600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr5:112631800-112632800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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