Variant report

Variant	rs11722415
Chromosome Location	chr4:56386307-56386308
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	chr4:56379554..56382358-chr4:56384329..56386437,2	K562	blood:

Variant related genes	Relation type
ENSG00000134852	Chromatin interaction
ENSG00000272969	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11722277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11723580	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11724300	1.00[AFR][1000 genomes]
rs11725081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11725422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11725439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11725592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11725738	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11727248	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11729092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11729403	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11732078	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11732684	1.00[AFR][1000 genomes]
rs11733959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11733966	1.00[AFR][1000 genomes]
rs11735654	0.95[EUR][1000 genomes]
rs1522113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17085763	0.97[EUR][1000 genomes]
rs28409498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28450557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34897046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35133040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35793438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56342800-56391400	Weak transcription	Psoas Muscle	Psoas
2	chr4:56361200-56387400	Weak transcription	Left Ventricle	heart
3	chr4:56361600-56411800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:56366200-56386400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:56370000-56391200	Weak transcription	HSMM	muscle
6	chr4:56370200-56390800	Weak transcription	HMEC	breast
7	chr4:56372600-56405200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr4:56375600-56390000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:56375800-56393800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:56376200-56391000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:56376400-56387400	Weak transcription	NHEK	skin
12	chr4:56378000-56387000	Weak transcription	Stomach Mucosa	stomach
13	chr4:56378000-56389800	Weak transcription	Gastric	stomach
14	chr4:56378000-56391200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:56379800-56391200	Weak transcription	NHDF-Ad	bronchial
16	chr4:56380600-56391400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:56380800-56390200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:56381000-56390600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:56385000-56395800	Weak transcription	Primary B cells from cord blood	blood
20	chr4:56385000-56403400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr4:56385200-56389400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:56385200-56391200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:56386000-56386800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:56386000-56387200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr4:56386000-56387200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:56386000-56387200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:56386000-56398600	Weak transcription	Fetal Stomach	stomach
28	chr4:56386200-56386600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr4:56386200-56386600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:56386200-56387200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr4:56386200-56387400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr4:56386200-56387400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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