Variant report

Variant	rs56105621
Chromosome Location	chr4:147388554-147388555
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	chr4:147386400..147389417-chr4:147392730..147396192,3	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11733337	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11735134	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11736228	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11933994	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11944523	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1344140	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17021532	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28605564	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3849036	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4401467	0.99[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4835038	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4835306	0.82[AFR][1000 genomes]
rs57910109	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68027160	0.80[AFR][1000 genomes]
rs7663212	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription 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	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1033640	chr4:147232217-147531881	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv917053	chr4:147265436-147499653	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023868	chr4:147265443-147531626	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv537293	chr4:147265443-147531626	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv428453	chr4:147335953-147457115	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr4:147364800-147402200	Weak transcription	Thymus	Thymus
2	chr4:147370800-147388800	Weak transcription	Psoas Muscle	Psoas
3	chr4:147372000-147402400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr4:147372200-147389000	Weak transcription	Primary B cells from cord blood	blood
5	chr4:147373200-147394000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:147380000-147399600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:147380000-147402600	Weak transcription	Primary T cells from cord blood	blood
8	chr4:147380200-147403800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr4:147380400-147394800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:147382600-147402000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:147382600-147402400	Weak transcription	Gastric	stomach
12	chr4:147385200-147390400	Weak transcription	Left Ventricle	heart
13	chr4:147387000-147403200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:147387200-147392000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:147387200-147403200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:147387600-147393000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:147387800-147393200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr4:147387800-147402400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:147388000-147388800	Enhancers	HMEC	breast
20	chr4:147388000-147389000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:147388000-147389200	Enhancers	NHEK	skin
22	chr4:147388200-147389200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:147388400-147393600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr4:147388400-147402200	Weak transcription	Lung	lung

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