Variant report

Variant	rs9596172
Chromosome Location	chr13:50267486-50267487
allele	G/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	CEBPB	chr13:50267272-50267548	IMR90	lung:	n/a	chr13:50267367-50267378
2	FOS	chr13:50267463-50267529	MCF10A-Er-Src	breast:	n/a	chr13:50267492-50267502
3	CEBPB	chr13:50267316-50267518	HepG2	liver:	n/a	chr13:50267367-50267378
4	CEBPB	chr13:50267321-50267505	A549	lung:	n/a	chr13:50267367-50267378
5	MAFF	chr13:50267454-50267627	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:50265861..50268328-chr13:50270535..50273310,2	K562	blood:
2	chr13:50266035..50267824-chr13:50362193..50365135,2	K562	blood:
3	chr13:50261767..50269137-chr13:50365068..50368535,12	MCF-7	breast:
4	chr13:50267314..50268229-chr16:27269214..27270115,2	MCF-7	breast:
5	chr13:50265747..50268429-chr13:50268822..50272035,3	K562	blood:
6	chr13:50262508..50268089-chr13:50363531..50368771,13	MCF-7	breast:

Variant related genes	Relation type
EBPL	TF binding region
ENSG00000169189	Chromatin interaction
ENSG00000102753	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1043729	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12585921	0.84[EUR][1000 genomes]
rs13313256	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17073322	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17073347	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17073356	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1819191	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1885723	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1969739	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1986085	0.84[EUR][1000 genomes]
rs1998363	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2181184	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2236326	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2407875	0.80[EUR][1000 genomes]
rs3736830	0.96[ASN][1000 genomes]
rs3742094	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3782929	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3903770	0.80[EUR][1000 genomes]
rs4941655	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4941656	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4942862	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4942865	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56738401	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57118905	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57783887	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57794226	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58124341	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs60019803	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60106669	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60856213	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7321391	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7334018	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7335016	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7335310	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73483835	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73485710	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs765291	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs765292	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7984711	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7989633	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7990293	0.87[ASN][1000 genomes]
rs7993631	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7993860	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7994062	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9535306	0.98[ASN][1000 genomes]
rs9591293	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9591294	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9591296	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9596173	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9596174	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9596175	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9596176	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9596181	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9596188	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9596189	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9596194	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv900071	chr13:50107289-50286218	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv900072	chr13:50266109-50381016	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50265600-50267600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:50266000-50268200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:50266000-50273000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:50266000-50278200	Weak transcription	Lung	lung
5	chr13:50266000-50284200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:50266200-50267600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr13:50266200-50267600	Weak transcription	Osteobl	bone
8	chr13:50266200-50268400	Enhancers	HUVEC	blood vessel
9	chr13:50266200-50269000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr13:50266200-50269000	Enhancers	Primary hematopoietic stem cells	blood
11	chr13:50266200-50269000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr13:50266200-50270000	Weak transcription	HSMM	muscle
13	chr13:50266200-50270800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:50266200-50271200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:50266200-50271400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:50266200-50271400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr13:50266200-50271400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr13:50266200-50271400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr13:50266200-50271400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr13:50266200-50271400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr13:50266200-50271600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr13:50266200-50271800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr13:50266200-50272000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr13:50266200-50272000	Weak transcription	Fetal Heart	heart
25	chr13:50266200-50272200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr13:50266200-50272200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr13:50266200-50272200	Weak transcription	Fetal Intestine Large	intestine
28	chr13:50266200-50272200	Weak transcription	Fetal Stomach	stomach
29	chr13:50266200-50272200	Weak transcription	Left Ventricle	heart
30	chr13:50266200-50272200	Weak transcription	NH-A	brain
31	chr13:50266200-50272600	Weak transcription	Fetal Intestine Small	intestine
32	chr13:50266200-50272800	Weak transcription	Aorta	Aorta
33	chr13:50266200-50272800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr13:50266200-50273000	Weak transcription	Adipose Nuclei	Adipose
35	chr13:50266200-50273000	Weak transcription	Ovary	ovary
36	chr13:50266200-50274200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr13:50266200-50274400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr13:50266200-50275000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr13:50266200-50275000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr13:50266200-50275000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr13:50266200-50275000	Weak transcription	Fetal Brain Male	brain
42	chr13:50266200-50275000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr13:50266200-50275000	Weak transcription	Thymus	Thymus
44	chr13:50266200-50275000	Weak transcription	GM12878-XiMat	blood
45	chr13:50266200-50275000	Weak transcription	Hela-S3	cervix
46	chr13:50266200-50275000	Weak transcription	NHDF-Ad	bronchial
47	chr13:50266200-50275200	Weak transcription	Brain Hippocampus Middle	brain
48	chr13:50266200-50275200	Weak transcription	HSMMtube	muscle
49	chr13:50266200-50275400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr13:50266200-50275400	Weak transcription	Brain Substantia Nigra	brain

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