Variant report

Variant	rs72819165
Chromosome Location	chr2:100625584-100625585
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	GATA3	chr2:100625262-100625917	SK-N-SH	brain:	n/a	n/a
2	SPI1	chr2:100625358-100625884	HL-60	blood:	n/a	chr2:100625642-100625651 chr2:100625640-100625653 chr2:100625639-100625652
3	POLR2A	chr2:100625365-100625824	SK-N-SH	brain:	n/a	n/a
4	PBX3	chr2:100625254-100625860	SK-N-SH	brain:	n/a	n/a
5	SPI1	chr2:100625561-100625794	HL-60	blood:	n/a	chr2:100625642-100625651 chr2:100625640-100625653 chr2:100625639-100625652
6	PBX3	chr2:100625320-100625835	SK-N-SH	brain:	n/a	n/a
7	TEAD4	chr2:100625417-100625951	SK-N-SH	brain:	n/a	n/a
8	TCF12	chr2:100625232-100625888	SK-N-SH	brain:	n/a	chr2:100625715-100625724
9	NFIC	chr2:100625341-100625732	SK-N-SH	brain:	n/a	n/a
10	TCF12	chr2:100625322-100625843	SK-N-SH	brain:	n/a	chr2:100625715-100625724
11	EP300	chr2:100625440-100625993	SK-N-SH	brain:	n/a	chr2:100625794-100625808
12	GATA3	chr2:100625283-100625857	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100615299..100618134-chr2:100624767..100626661,2	K562	blood:

Variant related genes	Relation type
AFF3	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10164818	0.81[EUR][1000 genomes]
rs10165066	0.84[EUR][1000 genomes]
rs10183465	0.85[EUR][1000 genomes]
rs10185707	0.85[EUR][1000 genomes]
rs10187195	0.85[EUR][1000 genomes]
rs10189707	0.84[EUR][1000 genomes]
rs10198062	0.85[EUR][1000 genomes]
rs10198187	0.85[EUR][1000 genomes]
rs10211423	0.85[EUR][1000 genomes]
rs11887136	0.84[EUR][1000 genomes]
rs11897706	0.81[EUR][1000 genomes]
rs13382597	0.85[EUR][1000 genomes]
rs13383014	0.85[EUR][1000 genomes]
rs13385193	0.97[EUR][1000 genomes]
rs13405987	0.85[EUR][1000 genomes]
rs13410695	0.85[EUR][1000 genomes]
rs13410884	0.84[EUR][1000 genomes]
rs13413309	0.87[EUR][1000 genomes]
rs13416574	0.84[EUR][1000 genomes]
rs17023362	0.97[EUR][1000 genomes]
rs17023378	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17023391	0.99[EUR][1000 genomes]
rs17023393	0.99[EUR][1000 genomes]
rs17352514	0.87[EUR][1000 genomes]
rs17436983	0.85[EUR][1000 genomes]
rs17437101	0.89[EUR][1000 genomes]
rs2309775	0.97[EUR][1000 genomes]
rs4129805	0.85[EUR][1000 genomes]
rs4485586	0.89[EUR][1000 genomes]
rs4641993	0.81[EUR][1000 genomes]
rs55649403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55681051	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56332326	0.84[EUR][1000 genomes]
rs57360658	0.82[EUR][1000 genomes]
rs62149271	0.84[EUR][1000 genomes]
rs62149296	0.85[EUR][1000 genomes]
rs62149302	0.85[EUR][1000 genomes]
rs62149303	0.85[EUR][1000 genomes]
rs62149304	0.87[EUR][1000 genomes]
rs62149305	0.89[EUR][1000 genomes]
rs62149307	0.89[EUR][1000 genomes]
rs62149310	0.89[EUR][1000 genomes]
rs62149311	0.88[EUR][1000 genomes]
rs62149314	0.89[EUR][1000 genomes]
rs62149316	0.84[EUR][1000 genomes]
rs6719214	0.87[EUR][1000 genomes]
rs6736239	1.00[EUR][1000 genomes]
rs72819147	0.84[EUR][1000 genomes]
rs72819157	0.85[EUR][1000 genomes]
rs7425132	0.82[EUR][1000 genomes]
rs7576469	0.85[EUR][1000 genomes]
rs7577040	0.82[EUR][1000 genomes]
rs9308832	0.99[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	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100592600-100626400	Weak transcription	NH-A	brain
2	chr2:100605200-100627200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr2:100605400-100627800	Weak transcription	Right Ventricle	heart
4	chr2:100610800-100625800	Strong transcription	Primary B cells from peripheral blood	blood
5	chr2:100612000-100634200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:100613200-100626200	Strong transcription	Primary B cells from cord blood	blood
7	chr2:100614400-100625600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:100615600-100626600	Strong transcription	Primary T cells from cord blood	blood
9	chr2:100615600-100638400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:100617200-100625800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:100617600-100627400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:100617800-100626200	Weak transcription	Placenta	Placenta
13	chr2:100620000-100625600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:100620200-100628000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:100620400-100626000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:100620600-100635200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:100621600-100626600	Strong transcription	Dnd41	blood
18	chr2:100622600-100625600	Strong transcription	Fetal Brain Female	brain
19	chr2:100623000-100625600	Strong transcription	Fetal Lung	lung
20	chr2:100623000-100625600	Strong transcription	Thymus	Thymus
21	chr2:100623400-100627600	Weak transcription	Right Atrium	heart
22	chr2:100623600-100628000	Weak transcription	Aorta	Aorta
23	chr2:100623600-100632400	Weak transcription	Spleen	Spleen
24	chr2:100623600-100633400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:100623800-100626400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:100623800-100627600	Weak transcription	Ovary	ovary
27	chr2:100623800-100630200	Weak transcription	Liver	Liver
28	chr2:100623800-100635200	Weak transcription	Brain Angular Gyrus	brain
29	chr2:100624000-100626800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:100624000-100634200	Weak transcription	Adipose Nuclei	Adipose
31	chr2:100624200-100626200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:100624200-100626200	Weak transcription	Lung	lung
33	chr2:100624200-100626600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:100624200-100629400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:100624200-100632600	Weak transcription	Gastric	stomach
36	chr2:100624400-100625800	Strong transcription	Primary hematopoietic stem cells	blood
37	chr2:100624800-100657800	Weak transcription	Brain Germinal Matrix	brain
38	chr2:100625000-100626600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:100625000-100626600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:100625000-100627200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:100625000-100631200	Enhancers	NHDF-Ad	bronchial
42	chr2:100625200-100625600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr2:100625200-100625600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:100625200-100626400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:100625200-100626600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:100625200-100628400	Enhancers	Colon Smooth Muscle	Colon
47	chr2:100625200-100628600	Enhancers	Rectal Smooth Muscle	rectum
48	chr2:100625200-100628800	Enhancers	Osteobl	bone
49	chr2:100625200-100630200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr2:100625200-100631200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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