Variant report

Variant	rs2256753
Chromosome Location	chr4:55550693-55550694
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11946333	1.00[ASN][1000 genomes]
rs2282776	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2703465	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2855771	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2855772	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2855774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6833242	0.94[EUR][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	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv3367952	chr4:55437113-55724644	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1009516	chr4:55548449-55560839	Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55537600-55554000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:55543400-55550800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:55543600-55551600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:55545600-55575800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr4:55545800-55562000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:55546800-55551000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:55546800-55558000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:55548000-55561600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:55549000-55555200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:55549200-55559200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:55549400-55551200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr4:55549400-55551400	Enhancers	Primary B cells from peripheral blood	blood
13	chr4:55549400-55551400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr4:55549400-55552000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:55549600-55550800	Enhancers	Fetal Thymus	thymus
16	chr4:55549600-55551000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:55549600-55551200	Enhancers	Primary T cells from cord blood	blood
18	chr4:55549800-55551000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr4:55549800-55551200	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr4:55549800-55551400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr4:55549800-55551800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:55550000-55550800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:55550000-55551200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr4:55550000-55551400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr4:55550000-55552200	Enhancers	Brain Anterior Caudate	brain
26	chr4:55550200-55551400	Enhancers	Primary T cells fromperipheralblood	blood
27	chr4:55550400-55551000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr4:55550400-55552000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr4:55550400-55553400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr4:55550600-55551000	Enhancers	Lung	lung
31	chr4:55550600-55551000	Enhancers	Spleen	Spleen
32	chr4:55550600-55552800	Weak transcription	Primary B cells from cord blood	blood
33	chr4:55550600-55553600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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