Variant report

Variant	rs66944352
Chromosome Location	chr4:48207199-48207200
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48199323..48202790-chr4:48204123..48207429,4	K562	blood:
2	chr4:48206028..48209307-chr4:48238256..48241207,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1159075	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11722540	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11942525	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11944638	0.92[ASN][1000 genomes]
rs16861106	0.85[ASN][1000 genomes]
rs16861108	0.85[ASN][1000 genomes]
rs2136504	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34585972	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4543083	0.85[ASN][1000 genomes]
rs58651988	0.85[ASN][1000 genomes]
rs6829390	0.93[ASN][1000 genomes]
rs73138446	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73138447	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73138450	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73138478	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73814690	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73814692	0.85[AFR][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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48190400-48222000	Weak transcription	Fetal Intestine Small	intestine
2	chr4:48190600-48207200	Weak transcription	Spleen	Spleen
3	chr4:48195000-48208200	Enhancers	Primary B cells from peripheral blood	blood
4	chr4:48196200-48207200	Weak transcription	Lung	lung
5	chr4:48198200-48207200	Weak transcription	Pancreas	Pancrea
6	chr4:48200200-48212400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr4:48202200-48210000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:48203800-48212600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr4:48204400-48225600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:48204600-48212600	Enhancers	Primary hematopoietic stem cells	blood
11	chr4:48205400-48207400	Flanking Active TSS	GM12878-XiMat	blood
12	chr4:48205400-48207800	Enhancers	Fetal Heart	heart
13	chr4:48205600-48207200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr4:48205600-48208800	Enhancers	Fetal Brain Male	brain
15	chr4:48205800-48212600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:48206400-48212200	Weak transcription	Primary B cells from cord blood	blood
17	chr4:48206600-48207400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:48206600-48208000	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr4:48206600-48209000	Enhancers	K562	blood
20	chr4:48206800-48207400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:48206800-48207400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:48206800-48207400	Enhancers	Esophagus	oesophagus
23	chr4:48206800-48207400	Enhancers	Gastric	stomach
24	chr4:48206800-48207800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr4:48207000-48208200	Enhancers	Fetal Brain Female	brain

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