Variant report

Variant	rs13423639
Chromosome Location	chr2:182320778-182320779
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	chr2:182320512-182331721	GM12891	blood:	n/a	n/a
2	MTA3	chr2:182320370-182323215	GM12878	blood:	n/a	n/a
3	IKZF1	chr2:182320599-182321054	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ITGA4	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10153755	1.00[AMR][1000 genomes]
rs10180793	1.00[AMR][1000 genomes]
rs10206693	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1026401	1.00[AMR][1000 genomes]
rs1037623	1.00[AMR][1000 genomes]
rs13415157	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13424840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1348124	1.00[AMR][1000 genomes]
rs1375489	1.00[AMR][1000 genomes]
rs1449258	1.00[AMR][1000 genomes]
rs1466110	1.00[AMR][1000 genomes]
rs155117	1.00[AMR][1000 genomes]
rs155118	1.00[AMR][1000 genomes]
rs2198730	1.00[AMR][1000 genomes]
rs2368214	1.00[AMR][1000 genomes]
rs3863936	1.00[AMR][1000 genomes]
rs3910673	1.00[AMR][1000 genomes]
rs4404231	1.00[AMR][1000 genomes]
rs57055225	1.00[AMR][1000 genomes]
rs6706626	1.00[AMR][1000 genomes]
rs6730994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73974897	1.00[AMR][1000 genomes]
rs9653241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1002647	chr2:182078521-182392273	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536064	chr2:182078521-182392273	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv834476	chr2:182179249-182360259	Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182318800-182321000	Enhancers	Fetal Thymus	thymus
2	chr2:182318800-182321200	Enhancers	Thymus	Thymus
3	chr2:182319000-182320800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:182319000-182321200	Enhancers	Dnd41	blood
5	chr2:182319200-182320800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:182319200-182320800	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr2:182319200-182321000	Enhancers	Primary hematopoietic stem cells	blood
8	chr2:182319200-182321000	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr2:182319200-182321000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:182319200-182321200	Enhancers	Primary B cells from cord blood	blood
11	chr2:182319200-182321200	Enhancers	Primary B cells from peripheral blood	blood
12	chr2:182319200-182321200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr2:182319400-182320800	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:182319400-182321200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr2:182319600-182321200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr2:182319600-182321400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:182319600-182321400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr2:182319800-182321000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:182319800-182321200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:182319800-182321200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:182319800-182321200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:182319800-182321800	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr2:182320000-182321200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr2:182320000-182321200	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr2:182320200-182320800	Enhancers	Duodenum Mucosa	Duodenum
26	chr2:182320200-182321600	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr2:182320600-182320800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr2:182320600-182320800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr2:182320600-182321000	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr2:182320600-182321400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:182320600-182321400	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr2:182320600-182321800	Flanking Active TSS	GM12878-XiMat	blood
33	chr2:182320600-182322000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:182320600-182322000	Enhancers	Spleen	Spleen

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