Variant report

Variant	rs11944829
Chromosome Location	chr4:87928444-87928445
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:87927492..87928450-chr7:116593509..116594221,2	Hela-S3	cervix:
2	chr4:87927007..87928738-chr4:87968800..87971824,3	K562	blood:
3	chr4:87926172..87928696-chr7:150019642..150022141,2	MCF-7	breast:
4	chr4:87927957..87928647-chr7:26240156..26240755,2	NB4	blood:
5	chr4:87845889..87863516-chr4:87925389..87935181,79	K562	blood:
6	chr4:87853395..87861870-chr4:87925425..87930611,18	MCF-7	breast:
7	chr17:74733173..74733801-chr4:87927871..87928865,2	HCT-116	colon:
8	chr4:87926596..87928915-chr4:87970659..87972204,2	MCF-7	breast:
9	chr14:35872357..35874044-chr4:87927211..87929336,2	MCF-7	breast:
10	chr20:49347428..49348256-chr4:87927620..87928601,2	MCF-7	breast:
11	chr3:49202893..49203855-chr4:87927929..87928500,2	Hela-S3	cervix:
12	chr4:87855388..87857616-chr4:87927379..87929131,8	MCF-7	breast:
13	chr4:87925170..87928506-chr4:88140421..88143207,4	MCF-7	breast:
14	chr4:87854708..87860113-chr4:87926348..87930107,23	MCF-7	breast:
15	chr4:87853595..87871697-chr4:87924007..87941983,77	K562	blood:

No data

Variant related genes	Relation type
ENSG00000177352	Chromatin interaction
ENSG00000106526	Chromatin interaction
ENSG00000122566	Chromatin interaction
ENSG00000004866	Chromatin interaction
ENSG00000127399	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000161547	Chromatin interaction
ENSG00000214188	Chromatin interaction
ENSG00000092931	Chromatin interaction
ENSG00000235043	Chromatin interaction
ENSG00000145332	Chromatin interaction
ENSG00000172493	Chromatin interaction
ENSG00000163633	Chromatin interaction
ENSG00000124171	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1048482	0.81[AFR][1000 genomes]
rs11930536	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11937587	1.00[AMR][1000 genomes]
rs11939722	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11943683	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11945169	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11947276	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17012253	0.87[AFR][1000 genomes]
rs17012255	0.87[AFR][1000 genomes]
rs17012288	1.00[AMR][1000 genomes]
rs28567446	1.00[AMR][1000 genomes]
rs6810840	0.81[AFR][1000 genomes]
rs6827682	0.85[AFR][1000 genomes]
rs6831823	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6833094	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6850907	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6851927	0.85[AFR][1000 genomes]
rs6856436	1.00[AMR][1000 genomes]
rs6857010	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs729984	0.90[AFR][1000 genomes]
rs7659431	1.00[AMR][1000 genomes]
rs7671609	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7676368	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7676669	1.00[AMR][1000 genomes]
rs7677039	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7677287	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7690864	1.00[AMR][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	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87926600-87929400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:87926800-87929400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:87926800-87929400	Active TSS	Sigmoid Colon	Sigmoid Colon
4	chr4:87926800-87929800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr4:87926800-87930000	Active TSS	Psoas Muscle	Psoas
6	chr4:87926800-87930200	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr4:87927000-87929000	Active TSS	Fetal Brain Male	brain
8	chr4:87927000-87929200	Active TSS	HSMM	muscle
9	chr4:87927000-87929600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:87927000-87929600	Active TSS	Aorta	Aorta
11	chr4:87927000-87930200	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr4:87927000-87930200	Active TSS	Thymus	Thymus
13	chr4:87927000-87930400	Active TSS	Colonic Mucosa	Colon
14	chr4:87927000-87930400	Active TSS	Right Ventricle	heart
15	chr4:87927200-87928800	Active TSS	Primary B cells from peripheral blood	blood
16	chr4:87927200-87929200	Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr4:87927200-87929200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr4:87927200-87929200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:87927200-87929200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:87927200-87929200	Active TSS	Brain Cingulate Gyrus	brain
21	chr4:87927200-87929200	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr4:87927200-87929200	Active TSS	Fetal Lung	lung
23	chr4:87927200-87929200	Active TSS	Gastric	stomach
24	chr4:87927200-87929200	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr4:87927200-87929200	Active TSS	Spleen	Spleen
26	chr4:87927200-87929400	Active TSS	H9 Cell Line	embryonic stem cell
27	chr4:87927200-87929400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr4:87927200-87929400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr4:87927200-87929400	Active TSS	Esophagus	oesophagus
30	chr4:87927200-87929400	Active TSS	Fetal Muscle Trunk	muscle
31	chr4:87927200-87929400	Active TSS	Lung	lung
32	chr4:87927200-87929400	Active TSS	Pancreas	Pancrea
33	chr4:87927200-87929600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:87927200-87929600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:87927200-87929600	Active TSS	Fetal Stomach	stomach
36	chr4:87927200-87929800	Active TSS	NHDF-Ad	bronchial
37	chr4:87927200-87930000	Active TSS	Rectal Smooth Muscle	rectum
38	chr4:87927200-87930200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:87927200-87930200	Active TSS	Colon Smooth Muscle	Colon
40	chr4:87927200-87930200	Active TSS	Stomach Smooth Muscle	stomach
41	chr4:87927200-87930400	Active TSS	Ovary	ovary
42	chr4:87927400-87928800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:87927400-87928800	Active TSS	Monocytes-CD14+_RO01746	blood
44	chr4:87927400-87929000	Active TSS	Hela-S3	cervix
45	chr4:87927400-87929000	Bivalent/Poised TSS	HepG2	liver
46	chr4:87927400-87929200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:87927400-87929200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr4:87927400-87929200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr4:87927400-87929200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
50	chr4:87927400-87929200	Active TSS	Primary T killer memory cells from peripheral blood	blood

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