Variant report

Variant	rs4488033
Chromosome Location	chr1:9744244-9744245
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	ZNF263	chr1:9744114-9744254	HEK293-T-REx	kidney:	n/a	n/a
2	MAX	chr1:9744230-9744324	NB4	blood:	n/a	chr1:9744270-9744280

Variant related genes	Relation type
PIK3CD	TF binding region

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs4240910	0.84[ASN][1000 genomes]
rs4333853	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4420084	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4601595	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4846192	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4846194	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56338585	0.91[ASN][1000 genomes]
rs6660363	0.90[ASN][1000 genomes]
rs6669509	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6700217	0.88[EUR][1000 genomes]
rs9430635	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9430636	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9430640	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9430641	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv832203	chr1:9726632-9860209	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9713200-9747200	Weak transcription	Pancreas	Pancrea
2	chr1:9729600-9746800	Weak transcription	Thymus	Thymus
3	chr1:9737400-9744400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:9737400-9745800	Weak transcription	K562	blood
5	chr1:9737400-9747000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:9737400-9747200	Weak transcription	Right Atrium	heart
7	chr1:9738200-9746000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:9739000-9744400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr1:9739000-9747200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:9739800-9747000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:9739800-9747200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:9740400-9747200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:9741800-9747200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:9741800-9747200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:9742000-9746800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:9742000-9747000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:9742200-9745800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:9742200-9746000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:9742200-9746000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:9742200-9746800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:9742200-9746800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:9742200-9747000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:9742800-9747000	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr1:9743000-9744800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
25	chr1:9743000-9747000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr1:9743400-9744800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:9743600-9744400	Genic enhancers	Primary B cells from peripheral blood	blood
28	chr1:9743600-9744400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr1:9743600-9744400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:9743600-9744600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
31	chr1:9743800-9747000	Enhancers	Primary T cells from cord blood	blood
32	chr1:9743800-9747200	Enhancers	Primary hematopoietic stem cells	blood
33	chr1:9744000-9744400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
34	chr1:9744000-9744800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:9744200-9744400	Weak transcription	Primary B cells from cord blood	blood
36	chr1:9744200-9744800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:9744200-9744800	Enhancers	Spleen	Spleen
38	chr1:9744200-9744800	Weak transcription	GM12878-XiMat	blood
39	chr1:9744200-9745000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:9744200-9745000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr1:9744200-9745400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:9744200-9745800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:9744200-9745800	Weak transcription	Dnd41	blood
44	chr1:9744200-9746000	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr1:9744200-9746800	Weak transcription	Fetal Thymus	thymus
46	chr1:9744200-9747200	Enhancers	Primary T cells fromperipheralblood	blood
47	chr1:9744200-9747200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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