Variant report

Variant	rs73479199
Chromosome Location	chr13:48646720-48646721
allele	A/C
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	MYC	chr13:48646605-48646727	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr13:48646086-48646822	GM12878	blood:	n/a	n/a
3	POLR2A	chr13:48645999-48646744	K562	blood:	n/a	n/a
4	EBF1	chr13:48646436-48646779	GM12878	blood:	n/a	chr13:48646660-48646671
5	MAFK	chr13:48646636-48647001	HepG2	liver:	n/a	chr13:48646774-48646789
6	POLR2A	chr13:48646146-48646893	HepG2	liver:	n/a	n/a
7	EBF1	chr13:48646374-48646874	GM12878	blood:	n/a	chr13:48646660-48646671
8	MAFK	chr13:48646639-48646980	HepG2	liver:	n/a	chr13:48646774-48646789
9	POLR2A	chr13:48646447-48646824	GM12891	blood:	n/a	n/a
10	EBF1	chr13:48646525-48646795	GM12878	blood:	n/a	chr13:48646660-48646671

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48638983..48640532-chr13:48645764..48648632,2	MCF-7	breast:
2	chr13:48646591..48648255-chr13:48651042..48653053,2	K562	blood:

Variant related genes	Relation type
MED4-AS1	TF binding region
ENSG00000229111	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs11148101	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11148102	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11148103	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11148104	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11148105	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838821	1.00[EUR][1000 genomes]
rs11840013	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11840146	1.00[EUR][1000 genomes]
rs11841025	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11841089	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11841517	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11842190	1.00[EUR][1000 genomes]
rs11842654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12427769	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12428098	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12428738	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12428782	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12428797	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12429895	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12429926	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12430608	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12584124	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12584625	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12584738	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12585232	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12585517	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12585580	1.00[EUR][1000 genomes]
rs12585766	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1410116	0.98[ASN][1000 genomes]
rs2148247	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296572	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35535367	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3742108	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782979	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56670154	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57530384	1.00[EUR][1000 genomes]
rs58080658	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59447207	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59845585	1.00[EUR][1000 genomes]
rs59991172	1.00[EUR][1000 genomes]
rs60398625	1.00[EUR][1000 genomes]
rs60828855	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61403342	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73477042	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73479175	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73479183	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73479186	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73479190	0.95[AFR][1000 genomes]
rs73479195	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73479200	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73481207	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481212	1.00[ASN][1000 genomes]
rs73481217	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481223	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481239	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481240	1.00[AFR][1000 genomes]
rs73481250	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481261	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481266	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481271	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73481288	1.00[EUR][1000 genomes]
rs73483108	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73483122	1.00[EUR][1000 genomes]
rs73485326	1.00[EUR][1000 genomes]
rs73485330	1.00[EUR][1000 genomes]
rs73485345	1.00[EUR][1000 genomes]
rs73485349	1.00[EUR][1000 genomes]
rs73485356	1.00[EUR][1000 genomes]
rs73487241	1.00[EUR][1000 genomes]
rs73487264	1.00[EUR][1000 genomes]
rs73487269	1.00[EUR][1000 genomes]
rs73489207	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73489232	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73493331	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73493345	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7990408	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48613400-48647000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr13:48623200-48652200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr13:48636600-48651400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:48636600-48655400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr13:48638200-48650000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr13:48638800-48651400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr13:48638800-48651600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr13:48639000-48648800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:48639400-48648600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr13:48639600-48649800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr13:48640000-48648600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr13:48640000-48649800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr13:48640200-48647000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
14	chr13:48640200-48648600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:48640200-48648600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr13:48640200-48648600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:48640200-48648600	ZNF genes & repeats	Fetal Brain Female	brain
18	chr13:48640200-48648600	ZNF genes & repeats	Fetal Lung	lung
19	chr13:48640200-48648600	ZNF genes & repeats	Fetal Muscle Leg	muscle
20	chr13:48640200-48649800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr13:48640200-48649800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr13:48640200-48649800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
23	chr13:48640200-48661200	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr13:48640400-48648200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
25	chr13:48640400-48648600	ZNF genes & repeats	Liver	Liver
26	chr13:48640400-48655600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr13:48640600-48648400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr13:48640800-48647000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr13:48640800-48648200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
30	chr13:48640800-48648600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr13:48641200-48647400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr13:48641600-48647400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
33	chr13:48641600-48647600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
34	chr13:48641600-48648800	ZNF genes & repeats	Primary B cells from cord blood	blood
35	chr13:48641800-48647000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr13:48641800-48647400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
37	chr13:48641800-48648200	ZNF genes & repeats	NHEK	skin
38	chr13:48642400-48648400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
39	chr13:48642600-48650200	ZNF genes & repeats	Dnd41	blood
40	chr13:48642600-48653800	Strong transcription	Brain Angular Gyrus	brain
41	chr13:48642800-48653800	Strong transcription	A549	lung
42	chr13:48644000-48647200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr13:48644000-48650000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr13:48644200-48646800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
45	chr13:48644200-48646800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr13:48644200-48647800	ZNF genes & repeats	Ovary	ovary
47	chr13:48644200-48648000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr13:48644200-48648000	ZNF genes & repeats	Lung	lung
49	chr13:48644200-48648600	ZNF genes & repeats	Brain Germinal Matrix	brain
50	chr13:48644200-48649800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood

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