Variant report

Variant	rs13133263
Chromosome Location	chr4:16220845-16220846
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr4:16220732-16220893	GM12878	blood:	n/a	n/a
2	ZNF143	chr4:16220606-16220871	K562	blood:	n/a	n/a
3	POLR2A	chr4:16220348-16221010	HepG2	liver:	n/a	n/a
4	RCOR1	chr4:16220618-16220941	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:16219972..16222393-chr4:16236561..16239245,2	K562	blood:
2	chr4:16219652..16222405-chr4:16247960..16249931,2	K562	blood:
3	chr4:16219520..16223580-chr4:16226468..16229712,6	MCF-7	breast:
4	chr4:16210098..16212174-chr4:16220610..16223093,2	K562	blood:
5	chr4:16218843..16221632-chr4:16227954..16229543,2	K562	blood:

No data

Variant related genes	Relation type
TAPT1	TF binding region
ENSG00000169762	Chromatin interaction
ENSG00000263327	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10006159	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10019399	0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs1025897	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1046234	0.93[YRI][hapmap]
rs10939652	0.81[AFR][1000 genomes]
rs10939657	0.89[ASN][1000 genomes]
rs11730977	0.92[AFR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13151111	0.85[ASN][1000 genomes]
rs13634	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1618243	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1662654	0.95[YRI][hapmap]
rs16893162	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs1712492	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1712495	0.89[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs178450	0.95[YRI][hapmap];0.82[AFR][1000 genomes]
rs203434	0.91[CEU][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs203435	0.81[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28618674	0.81[AFR][1000 genomes]
rs317853	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs317854	0.95[YRI][hapmap]
rs317857	0.81[ASN][1000 genomes]
rs317869	0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs317870	0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs317871	0.81[AFR][1000 genomes]
rs317872	0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs317873	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs317875	0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs317876	0.95[YRI][hapmap];0.80[AFR][1000 genomes]
rs317877	0.95[YRI][hapmap]
rs317878	0.90[YRI][hapmap]
rs36012247	0.96[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3749543	0.81[ASN][1000 genomes]
rs4317201	0.90[ASN][1000 genomes]
rs57924303	0.81[AFR][1000 genomes]
rs6812660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73130438	0.81[AFR][1000 genomes]
rs73130457	0.84[AFR][1000 genomes]
rs7666361	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs961449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	nsv998299	chr4:16031459-16226466	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv537047	chr4:16182060-16375787	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16181200-16223800	Weak transcription	Fetal Brain Male	brain
2	chr4:16193000-16225800	Weak transcription	Colonic Mucosa	Colon
3	chr4:16193200-16225800	Weak transcription	Fetal Brain Female	brain
4	chr4:16198600-16221200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:16198600-16222400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:16198800-16225600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:16198800-16226000	Weak transcription	NHEK	skin
8	chr4:16198800-16226400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:16204800-16226600	Weak transcription	NH-A	brain
10	chr4:16205200-16225600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:16207400-16223600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:16208400-16224400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr4:16208400-16225200	Weak transcription	Fetal Kidney	kidney
14	chr4:16208400-16225800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:16208800-16225600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:16208800-16225600	Weak transcription	Esophagus	oesophagus
17	chr4:16208800-16225600	Weak transcription	Gastric	stomach
18	chr4:16208800-16225800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:16208800-16225800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:16208800-16227200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr4:16209000-16225600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:16209200-16223400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:16209200-16225600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr4:16209200-16225600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:16209400-16226200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:16209400-16226200	Weak transcription	HSMMtube	muscle
27	chr4:16209600-16221400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr4:16210400-16225800	Weak transcription	Brain Germinal Matrix	brain
29	chr4:16212200-16226000	Weak transcription	NHDF-Ad	bronchial
30	chr4:16213000-16221400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:16214000-16224400	Weak transcription	Brain Anterior Caudate	brain
32	chr4:16214200-16221800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr4:16214200-16224200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:16214400-16226800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr4:16214600-16222600	Weak transcription	Fetal Heart	heart
36	chr4:16214600-16224400	Weak transcription	Brain Angular Gyrus	brain
37	chr4:16214600-16225800	Weak transcription	Placenta	Placenta
38	chr4:16214800-16224200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr4:16214800-16225200	Weak transcription	Hela-S3	cervix
40	chr4:16214800-16225800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:16215000-16221000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr4:16215000-16223600	Weak transcription	Brain Hippocampus Middle	brain
43	chr4:16215000-16224600	Weak transcription	Colon Smooth Muscle	Colon
44	chr4:16215000-16226000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:16215200-16223400	Weak transcription	Adipose Nuclei	Adipose
46	chr4:16215200-16225000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:16215600-16225600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:16215800-16223800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:16216000-16221200	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr4:16216200-16225600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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