Variant report

Variant	rs4869468
Chromosome Location	chr5:36146521-36146522
allele	A/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	MAFK	chr5:36146096-36146575	HepG2	liver:	n/a	chr5:36146172-36146183 chr5:36146168-36146184 chr5:36146171-36146185 chr5:36146173-36146184 chr5:36146173-36146184 chr5:36146172-36146183
2	MAFK	chr5:36146274-36146569	HepG2	liver:	n/a	n/a
3	POLR2A	chr5:36146516-36146549	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36145349..36147928-chr5:36151709..36153883,2	MCF-7	breast:
2	chr5:36144272..36147153-chr5:36240851..36243908,3	K562	blood:

Variant related genes	Relation type
LMBRD2	TF binding region
ENSG00000152620	Chromatin interaction
ENSG00000145604	Chromatin interaction
ENSG00000164187	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1113073	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12513526	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12522542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12654974	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12655763	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12658867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13156321	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13163292	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13177876	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13181789	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1393158	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1501817	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17343598	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1827369	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1827371	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs267766	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34165875	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34783816	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35746165	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36064347	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3898058	0.99[ASN][1000 genomes]
rs3913488	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4021314	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs40499	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4415106	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs766064	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7705825	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7705975	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7706216	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[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	nsv830262	chr5:36074311-36293872	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	63 gene(s)	inside rSNPs	diseases
2	nsv4795	chr5:36106115-36150407	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36101200-36150800	Weak transcription	Colonic Mucosa	Colon
2	chr5:36103600-36147200	Weak transcription	HUVEC	blood vessel
3	chr5:36108400-36150600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:36117400-36150200	Weak transcription	Colon Smooth Muscle	Colon
5	chr5:36122400-36147800	Weak transcription	NHDF-Ad	bronchial
6	chr5:36126800-36150400	Weak transcription	Fetal Heart	heart
7	chr5:36128200-36150800	Weak transcription	Psoas Muscle	Psoas
8	chr5:36129400-36149200	Weak transcription	Fetal Brain Male	brain
9	chr5:36129800-36146600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr5:36129800-36148400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr5:36130000-36147400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:36132600-36150800	Weak transcription	Right Ventricle	heart
13	chr5:36134200-36150400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:36136600-36149400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr5:36136600-36150200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:36136600-36150600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:36136600-36150600	Weak transcription	HSMMtube	muscle
18	chr5:36139000-36150600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:36140000-36146600	Weak transcription	HepG2	liver
20	chr5:36140400-36150600	Weak transcription	NHLF	lung
21	chr5:36140600-36150400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr5:36140600-36150600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:36140600-36150600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:36140600-36150600	Weak transcription	Thymus	Thymus
25	chr5:36140600-36150800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:36140600-36150800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:36140600-36150800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:36140600-36150800	Weak transcription	Aorta	Aorta
29	chr5:36140600-36150800	Weak transcription	Brain Angular Gyrus	brain
30	chr5:36140600-36150800	Weak transcription	Gastric	stomach
31	chr5:36140600-36150800	Weak transcription	Small Intestine	intestine
32	chr5:36140600-36150800	Weak transcription	Spleen	Spleen
33	chr5:36140600-36151000	Weak transcription	Esophagus	oesophagus
34	chr5:36140600-36151000	Weak transcription	Left Ventricle	heart
35	chr5:36140600-36151000	Weak transcription	Pancreas	Pancrea
36	chr5:36140600-36151200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:36140600-36151200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr5:36140800-36150200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:36140800-36150400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:36140800-36150600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:36140800-36150600	Weak transcription	Brain Anterior Caudate	brain
42	chr5:36140800-36150600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr5:36140800-36150600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr5:36140800-36150800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr5:36140800-36150800	Weak transcription	Fetal Lung	lung
46	chr5:36140800-36150800	Weak transcription	Fetal Stomach	stomach
47	chr5:36140800-36150800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr5:36140800-36151000	Weak transcription	Lung	lung
49	chr5:36140800-36151000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr5:36141000-36148000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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