Variant report

Variant	rs73819629
Chromosome Location	chr4:56388671-56388672
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56386289..56389446-chr4:56410663..56413533,3	K562	blood:
2	chr4:56386523..56389446-chr4:56410663..56413398,3	K562	blood:

Variant related genes	Relation type
ENSG00000134852	Chromatin interaction
ENSG00000272969	Chromatin interaction

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

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

rs_ID	r²[population]
rs1533803	0.80[AFR][1000 genomes]
rs17085739	0.85[AFR][1000 genomes]
rs17085769	0.80[AFR][1000 genomes]
rs17085780	0.80[AFR][1000 genomes]
rs57848550	0.80[AFR][1000 genomes]
rs73819624	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv999477	chr4:56219035-56397180	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv537101	chr4:56219035-56397180	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56342800-56391400	Weak transcription	Psoas Muscle	Psoas
2	chr4:56361600-56411800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:56370000-56391200	Weak transcription	HSMM	muscle
4	chr4:56370200-56390800	Weak transcription	HMEC	breast
5	chr4:56372600-56405200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr4:56375600-56390000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:56375800-56393800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:56376200-56391000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:56378000-56389800	Weak transcription	Gastric	stomach
10	chr4:56378000-56391200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:56379800-56391200	Weak transcription	NHDF-Ad	bronchial
12	chr4:56380600-56391400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:56380800-56390200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:56381000-56390600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:56385000-56395800	Weak transcription	Primary B cells from cord blood	blood
16	chr4:56385000-56403400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:56385200-56389400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:56385200-56391200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:56386000-56398600	Weak transcription	Fetal Stomach	stomach
20	chr4:56386600-56390800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:56386800-56394600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:56387200-56394800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:56387400-56392200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr4:56387800-56398800	Weak transcription	Left Ventricle	heart
25	chr4:56388000-56390200	Weak transcription	Pancreas	Pancrea
26	chr4:56388000-56390800	Weak transcription	NHEK	skin
27	chr4:56388000-56394800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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