Variant report

Variant	rs9567974
Chromosome Location	chr13:48576102-48576103
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	FOS	chr13:48575908-48576259	MCF10A-Er-Src	breast:	n/a	n/a
2	TFAP2C	chr13:48574861-48576517	Hela-S3	cervix:	n/a	chr13:48575177-48575192
3	FOXA2	chr13:48575685-48576193	A549	lung:	n/a	n/a
4	TCF7L2	chr13:48575208-48576583	Hela-S3	cervix:	n/a	n/a
5	TCF12	chr13:48575155-48576106	A549	lung:	n/a	n/a
6	POLR2A	chr13:48575197-48576375	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr13:48575336-48576275	MCF10A-Er-Src	breast:	n/a	n/a
8	MAX	chr13:48575143-48576125	A549	lung:	n/a	n/a
9	RCOR1	chr13:48574590-48576716	IMR90	lung:	n/a	n/a
10	MXI1	chr13:48574700-48576103	SK-N-SH	brain:	n/a	n/a
11	STAT3	chr13:48575919-48576295	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr13:48576054-48576444	Hela-S3	cervix:	n/a	n/a
13	FOXA2	chr13:48575783-48576115	A549	lung:	n/a	n/a
14	MYC	chr13:48575405-48576343	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr13:48576051-48576263	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr13:48575969-48576258	MCF10A-Er-Src	breast:	n/a	n/a
17	MAX	chr13:48575134-48576429	Hela-S3	cervix:	n/a	n/a
18	MAX	chr13:48575334-48576413	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr13:48574745-48576639	H1-hESC	embryonic stem cell:	n/a	n/a
20	FOS	chr13:48575855-48576253	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48573666..48577274-chr13:48610467..48613685,4	MCF-7	breast:
2	chr13:48573863..48576384-chr13:48611584..48613293,2	K562	blood:

Variant related genes	Relation type
SUCLA2	TF binding region
ENSG00000136159	Chromatin interaction
ENSG00000136143	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2025703	0.82[ASN][1000 genomes]
rs56097393	0.90[ASN][1000 genomes]
rs7326861	0.90[ASN][1000 genomes]
rs7335662	0.90[ASN][1000 genomes]
rs7981492	0.90[ASN][1000 genomes]
rs9562791	0.90[ASN][1000 genomes]
rs9562794	0.90[ASN][1000 genomes]
rs9562795	0.90[ASN][1000 genomes]
rs9567966	0.90[ASN][1000 genomes]
rs9567967	0.90[ASN][1000 genomes]
rs9567970	0.90[ASN][1000 genomes]
rs9567971	0.90[ASN][1000 genomes]
rs9634678	0.90[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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48573000-48576600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr13:48573600-48576200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr13:48573800-48576400	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr13:48574000-48576200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr13:48574200-48576200	Active TSS	Fetal Brain Female	brain
6	chr13:48574200-48576200	Active TSS	A549	lung
7	chr13:48574200-48576400	Active TSS	Brain Germinal Matrix	brain
8	chr13:48574400-48576200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr13:48574400-48576200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr13:48574600-48576200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:48574600-48576200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:48574600-48576200	Active TSS	Brain Substantia Nigra	brain
13	chr13:48574600-48576400	Active TSS	Hela-S3	cervix
14	chr13:48574600-48576600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:48574600-48576600	Active TSS	Brain Cingulate Gyrus	brain
16	chr13:48574800-48576200	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr13:48574800-48576200	Active TSS	Rectal Smooth Muscle	rectum
18	chr13:48574800-48576400	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr13:48574800-48576400	Active TSS	Brain Angular Gyrus	brain
20	chr13:48574800-48576400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr13:48574800-48576600	Active TSS	Brain Anterior Caudate	brain
22	chr13:48574800-48576600	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr13:48575000-48576600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr13:48575400-48576200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr13:48575400-48576200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr13:48575600-48576200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr13:48575600-48576200	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr13:48575600-48576200	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr13:48575600-48576200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr13:48575600-48576200	Flanking Active TSS	Stomach Mucosa	stomach
31	chr13:48575600-48576200	Flanking Active TSS	Dnd41	blood
32	chr13:48575600-48576400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr13:48575800-48576200	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr13:48575800-48576400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr13:48576000-48576200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr13:48576000-48576200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr13:48576000-48576200	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr13:48576000-48576200	Enhancers	Primary B cells from peripheral blood	blood
39	chr13:48576000-48576200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr13:48576000-48576200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr13:48576000-48576200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr13:48576000-48576200	Active TSS	Adipose Nuclei	Adipose
43	chr13:48576000-48576200	Active TSS	Brain Hippocampus Middle	brain
44	chr13:48576000-48576200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr13:48576000-48576200	Enhancers	Fetal Intestine Small	intestine
46	chr13:48576000-48576200	Active TSS	NH-A	brain
47	chr13:48576000-48576200	Enhancers	NHEK	skin
48	chr13:48576000-48576400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr13:48576000-48576400	Flanking Active TSS	Fetal Muscle Trunk	muscle
50	chr13:48576000-48576400	Active TSS	HepG2	liver

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