Variant report

Variant	rs10205511
Chromosome Location	chr2:100624052-100624053
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	GATA2	chr2:100623722-100624128	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
AFF3	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13420046	1.00[AFR][1000 genomes]
rs6758669	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs72953781	0.81[AFR][1000 genomes]
rs72953793	0.84[AFR][1000 genomes]
rs72955722	1.00[AFR][1000 genomes]
rs72955724	1.00[AFR][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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100563200-100625400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:100592600-100626400	Weak transcription	NH-A	brain
3	chr2:100605200-100627200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr2:100605400-100627800	Weak transcription	Right Ventricle	heart
5	chr2:100610800-100625800	Strong transcription	Primary B cells from peripheral blood	blood
6	chr2:100612000-100634200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:100613200-100626200	Strong transcription	Primary B cells from cord blood	blood
8	chr2:100614400-100625600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:100615600-100626600	Strong transcription	Primary T cells from cord blood	blood
10	chr2:100615600-100638400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:100616600-100625200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:100617200-100625800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:100617600-100627400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:100617800-100626200	Weak transcription	Placenta	Placenta
15	chr2:100618200-100624200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:100618200-100625000	Weak transcription	Left Ventricle	heart
17	chr2:100619600-100625000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:100620000-100625600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:100620200-100625400	Weak transcription	Fetal Kidney	kidney
20	chr2:100620200-100628000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:100620400-100626000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr2:100620600-100625400	Weak transcription	Fetal Brain Male	brain
23	chr2:100620600-100635200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:100621400-100625200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:100621600-100625200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:100621600-100626600	Strong transcription	Dnd41	blood
27	chr2:100621800-100625200	Strong transcription	Fetal Thymus	thymus
28	chr2:100622000-100625000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:100622200-100625000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:100622600-100625600	Strong transcription	Fetal Brain Female	brain
31	chr2:100622800-100624200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:100622800-100624800	Strong transcription	Brain Germinal Matrix	brain
33	chr2:100623000-100624200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:100623000-100624200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:100623000-100624200	Strong transcription	Gastric	stomach
36	chr2:100623000-100624200	Strong transcription	Lung	lung
37	chr2:100623000-100624200	Strong transcription	Osteobl	bone
38	chr2:100623000-100625000	Enhancers	Fetal Heart	heart
39	chr2:100623000-100625200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr2:100623000-100625600	Strong transcription	Fetal Lung	lung
41	chr2:100623000-100625600	Strong transcription	Thymus	Thymus
42	chr2:100623400-100624200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:100623400-100627600	Weak transcription	Right Atrium	heart
44	chr2:100623600-100624400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr2:100623600-100625000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr2:100623600-100625200	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr2:100623600-100625400	Weak transcription	Fetal Intestine Small	intestine
48	chr2:100623600-100628000	Weak transcription	Aorta	Aorta
49	chr2:100623600-100632400	Weak transcription	Spleen	Spleen
50	chr2:100623600-100633400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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