Variant report

Variant	rs58102716
Chromosome Location	chr2:231086631-231086632
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	PAX5	chr2:231086485-231086737	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
SP110	TF binding region
SP140	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16826884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16826903	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1896260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57136134	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57654919	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59268232	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59312215	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6729307	0.81[AFR][1000 genomes]
rs6756352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73104241	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73998782	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001562	chr2:230862717-231187043	Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv536156	chr2:230862717-231187043	Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv869834	chr2:231045013-231139827	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv998291	chr2:231045388-231136278	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv584666	chr2:231050715-231106621	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Enhancers 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	2 gene(s)	inside rSNPs	diseases
7	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231085000-231094800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:231085200-231086800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:231085200-231088400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:231085200-231089600	Enhancers	Primary B cells from peripheral blood	blood
5	chr2:231085400-231087600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr2:231085400-231088200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:231085400-231088200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:231085400-231088400	Enhancers	Primary B cells from cord blood	blood
9	chr2:231085400-231088400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr2:231085400-231088600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:231085400-231088600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:231085400-231088600	Weak transcription	Spleen	Spleen
13	chr2:231085400-231088800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr2:231085400-231088800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:231085400-231089000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:231085400-231089200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:231085400-231089400	Weak transcription	Primary T cells from cord blood	blood
18	chr2:231085400-231089400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr2:231085400-231089800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:231085400-231090000	Weak transcription	Esophagus	oesophagus
21	chr2:231085400-231090600	Weak transcription	Small Intestine	intestine
22	chr2:231085400-231092000	Weak transcription	Pancreas	Pancrea
23	chr2:231085600-231087400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr2:231085600-231088400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr2:231085600-231088400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr2:231085600-231088600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr2:231085600-231089000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:231085600-231089200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr2:231085600-231090200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr2:231086000-231087400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:231086000-231088400	Enhancers	NHEK	skin
32	chr2:231086000-231088800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:231086200-231086800	Flanking Active TSS	GM12878-XiMat	blood
34	chr2:231086200-231087000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:231086400-231087000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr2:231086400-231087800	Enhancers	HMEC	breast
37	chr2:231086400-231088200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:231086400-231088600	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr2:231086400-231090400	Weak transcription	Fetal Thymus	thymus
40	chr2:231086400-231095000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:231086600-231087800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:231086600-231088200	Enhancers	Placenta	Placenta

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