Variant report

Variant	rs11729092
Chromosome Location	chr4:56367395-56367396
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	chr4:56365024..56367783-chr4:56412476..56414407,3	K562	blood:
2	chr4:56365781..56367476-chr4:56374041..56376929,2	K562	blood:

Variant related genes	Relation type
ENSG00000272969	Chromatin interaction
ENSG00000134852	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]
rs11722415	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]
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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56302400-56375600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:56304800-56375800	Weak transcription	Pancreas	Pancrea
3	chr4:56314400-56377200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr4:56332600-56377800	Weak transcription	Gastric	stomach
5	chr4:56336000-56376800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr4:56337400-56377000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr4:56341400-56385600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:56341600-56369200	Weak transcription	HSMMtube	muscle
9	chr4:56341600-56369400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:56341600-56377000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr4:56341800-56376400	Weak transcription	Brain Substantia Nigra	brain
12	chr4:56341800-56376800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:56342200-56377600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr4:56342400-56376600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:56342400-56378200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr4:56342600-56369200	Weak transcription	HMEC	breast
17	chr4:56342800-56369200	Weak transcription	NH-A	brain
18	chr4:56342800-56391400	Weak transcription	Psoas Muscle	Psoas
19	chr4:56344600-56378200	Weak transcription	Brain Germinal Matrix	brain
20	chr4:56354600-56372200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr4:56355400-56369000	Weak transcription	NHEK	skin
22	chr4:56355400-56372800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:56355400-56373000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr4:56355400-56373200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr4:56355400-56374000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr4:56355400-56375000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:56355400-56377000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr4:56355400-56377000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr4:56355400-56377200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:56355400-56377400	Weak transcription	Brain Anterior Caudate	brain
31	chr4:56355400-56378000	Weak transcription	Aorta	Aorta
32	chr4:56355400-56379200	Weak transcription	Ovary	ovary
33	chr4:56355400-56379200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr4:56355400-56380800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr4:56355400-56381800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr4:56355400-56386200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr4:56355600-56369000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:56355600-56372000	Weak transcription	Placenta	Placenta
39	chr4:56355600-56374000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr4:56355600-56377000	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr4:56355600-56377000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr4:56355800-56376000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:56355800-56376000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr4:56356200-56369000	Weak transcription	Fetal Lung	lung
45	chr4:56356200-56369200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:56356800-56376800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:56357200-56374000	Weak transcription	Dnd41	blood
48	chr4:56357400-56375800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr4:56358400-56369000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr4:56361200-56375600	Weak transcription	Primary hematopoietic stem cells	blood

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