Variant report

Variant	rs197233
Chromosome Location	chr4:110512921-110512922
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11098036	0.88[ASN][1000 genomes]
rs1476545	0.88[ASN][1000 genomes]
rs197201	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs197203	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs197231	0.93[ASN][1000 genomes]
rs197235	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110504200-110513000	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr4:110507000-110513200	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr4:110508000-110515400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr4:110508400-110513400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr4:110508800-110523200	Weak transcription	Primary B cells from cord blood	blood
6	chr4:110510600-110522800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:110510800-110524200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr4:110510800-110530800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr4:110511000-110521600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:110511000-110527200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr4:110511400-110524400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:110511800-110513400	Enhancers	Placenta	Placenta
13	chr4:110511800-110515000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr4:110512000-110516200	Weak transcription	NHEK	skin
15	chr4:110512200-110513600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr4:110512200-110519600	Weak transcription	Thymus	Thymus
17	chr4:110512200-110521200	Weak transcription	Dnd41	blood
18	chr4:110512400-110513000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr4:110512400-110530000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:110512800-110514200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:110512800-110520000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr4:110512800-110520200	Weak transcription	Primary T cells from cord blood	blood
23	chr4:110512800-110524000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr4:110512800-110524200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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