Variant report

Variant	rs72647437
Chromosome Location	chr8:59473630-59473631
allele	C/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	POLR2A	chr8:59472344-59474273	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:59473428-59474219	IMR90	lung:	n/a	n/a
3	POLR2A	chr8:59469977-59477578	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr8:59472522-59474037	K562	blood:	n/a	n/a
5	POLR2A	chr8:59472192-59474263	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:59471998..59473866-chr8:59612178..59614856,2	K562	blood:
2	chr8:59463439..59469524-chr8:59469766..59475373,11	MCF-7	breast:
3	chr8:59472892..59474558-chr8:59553037..59555731,2	K562	blood:
4	chr8:59469692..59471649-chr8:59473194..59476156,2	MCF-7	breast:

Variant related genes	Relation type
SDCBP	TF binding region
ENSG00000137575	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10091952	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10092359	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10094910	0.90[EUR][1000 genomes]
rs10099153	0.82[EUR][1000 genomes]
rs10099912	0.82[EUR][1000 genomes]
rs10100873	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10104292	0.83[EUR][1000 genomes]
rs10106272	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10107530	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10110065	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10110111	0.80[AMR][1000 genomes]
rs10111052	0.90[EUR][1000 genomes]
rs10111180	0.94[EUR][1000 genomes]
rs10113323	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10113667	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10113830	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10504256	0.83[EUR][1000 genomes]
rs1050488	0.82[AMR][1000 genomes]
rs1050504	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11774558	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11775194	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11782455	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11783174	0.83[EUR][1000 genomes]
rs11785141	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12335008	0.81[EUR][1000 genomes]
rs12674724	0.91[EUR][1000 genomes]
rs12676593	0.82[EUR][1000 genomes]
rs12677290	0.82[EUR][1000 genomes]
rs12678669	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12679938	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12680104	0.85[AMR][1000 genomes]
rs1352496	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16923588	0.81[EUR][1000 genomes]
rs16923594	0.95[EUR][1000 genomes]
rs17206746	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17263989	0.80[AMR][1000 genomes]
rs17272151	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1976162	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2130072	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2279460	0.86[EUR][1000 genomes]
rs2279462	0.88[EUR][1000 genomes]
rs28656336	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28711402	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28809811	0.86[EUR][1000 genomes]
rs3808609	0.85[AMR][1000 genomes]
rs3816846	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4400366	0.83[EUR][1000 genomes]
rs4579515	0.83[EUR][1000 genomes]
rs56249776	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59979442	0.82[EUR][1000 genomes]
rs6991020	0.82[EUR][1000 genomes]
rs6995115	0.82[EUR][1000 genomes]
rs7011095	0.80[EUR][1000 genomes]
rs72647424	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72647425	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72647434	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72647435	0.81[EUR][1000 genomes]
rs72647443	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7825996	0.81[EUR][1000 genomes]
rs7840932	0.81[EUR][1000 genomes]
rs7844231	0.80[EUR][1000 genomes]
rs9297996	0.83[EUR][1000 genomes]
rs9297998	0.83[EUR][1000 genomes]
rs9297999	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv890939	chr8:59471187-59544413	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 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	chr8:59466800-59479800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:59467200-59486000	Weak transcription	Brain Angular Gyrus	brain
3	chr8:59467400-59559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:59467600-59479200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:59468000-59475800	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:59468000-59476600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr8:59468000-59479000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr8:59468000-59479600	Weak transcription	HepG2	liver
9	chr8:59468000-59480000	Weak transcription	Brain Substantia Nigra	brain
10	chr8:59468200-59474200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:59468200-59480000	Weak transcription	Fetal Kidney	kidney
12	chr8:59468400-59475800	Weak transcription	Liver	Liver
13	chr8:59468400-59476200	Weak transcription	HMEC	breast
14	chr8:59469000-59474000	Weak transcription	Fetal Lung	lung
15	chr8:59469000-59476400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:59469200-59476400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:59469200-59476400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr8:59469200-59477800	Weak transcription	Hela-S3	cervix
19	chr8:59469400-59475000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr8:59470200-59476200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
21	chr8:59470400-59476400	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:59470600-59475800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr8:59470600-59476200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr8:59471200-59475600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:59471200-59475800	Weak transcription	Psoas Muscle	Psoas
26	chr8:59471200-59478000	Weak transcription	A549	lung
27	chr8:59471400-59475400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr8:59471400-59476200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:59471600-59489200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr8:59472000-59476400	Strong transcription	HSMM	muscle
31	chr8:59472200-59473800	Strong transcription	Fetal Thymus	thymus
32	chr8:59472200-59474000	Strong transcription	Primary T cells from cord blood	blood
33	chr8:59472200-59474000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr8:59472200-59474000	Genic enhancers	Adipose Nuclei	Adipose
35	chr8:59472200-59474200	Strong transcription	NHEK	skin
36	chr8:59472400-59473800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr8:59472400-59474000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr8:59472600-59473800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:59472600-59473800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr8:59472600-59474000	ZNF genes & repeats	Fetal Brain Female	brain
41	chr8:59472600-59474200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
42	chr8:59472600-59474200	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr8:59472600-59474200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:59472600-59475000	Genic enhancers	Monocytes-CD14+_RO01746	blood
45	chr8:59472600-59475400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:59472600-59477600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr8:59472600-59478600	Weak transcription	K562	blood
48	chr8:59472800-59473800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr8:59472800-59473800	ZNF genes & repeats	Brain Germinal Matrix	brain
50	chr8:59472800-59474200	Strong transcription	Primary hematopoietic stem cells	blood

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