Variant report

Variant	rs1816932
Chromosome Location	chr4:56771414-56771415
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:56770927..56772433-chr4:56774182..56776594,2	MCF-7	breast:
2	chr4:56767756..56770065-chr4:56770884..56773389,3	K562	blood:
3	chr4:56769616..56772179-chr4:56795493..56798021,2	K562	blood:

Variant related genes	Relation type
ENSG00000222954	Chromatin interaction
ENSG00000090989	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11935692	0.97[ASN][1000 genomes]
rs13117307	0.97[ASN][1000 genomes]
rs13147883	0.97[ASN][1000 genomes]
rs1447045	0.97[ASN][1000 genomes]
rs1447046	0.97[ASN][1000 genomes]
rs1447047	0.91[ASN][1000 genomes]
rs2034296	0.83[EUR][1000 genomes]
rs2121516	0.94[ASN][1000 genomes]
rs35227303	0.97[ASN][1000 genomes]
rs35353052	0.94[ASN][1000 genomes]
rs749781	0.97[ASN][1000 genomes]
rs9968386	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv3406311	chr4:56580578-56840877	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv427681	chr4:56651921-56908209	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv879024	chr4:56742205-56786589	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv879025	chr4:56742205-56808607	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3492848	chr4:56770810-56775264	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3492849	chr4:56770810-56775264	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56721600-56774600	Weak transcription	Fetal Heart	heart
2	chr4:56733800-56772200	Weak transcription	Hela-S3	cervix
3	chr4:56733800-56772800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr4:56734400-56773000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr4:56734600-56773400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:56737000-56774800	Weak transcription	Psoas Muscle	Psoas
7	chr4:56745800-56772800	Weak transcription	Small Intestine	intestine
8	chr4:56747800-56772800	Weak transcription	NHEK	skin
9	chr4:56748000-56772000	Weak transcription	NHLF	lung
10	chr4:56748000-56773200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr4:56748200-56773400	Weak transcription	Gastric	stomach
12	chr4:56748600-56773000	Weak transcription	Right Ventricle	heart
13	chr4:56748600-56773200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr4:56748600-56773400	Weak transcription	Colonic Mucosa	Colon
15	chr4:56748600-56776800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:56751400-56776200	Weak transcription	A549	lung
17	chr4:56754800-56772800	Strong transcription	Placenta	Placenta
18	chr4:56755800-56772000	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr4:56755800-56772200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:56756000-56773200	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr4:56756600-56773200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr4:56758000-56772800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:56758600-56773200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:56758800-56772800	Strong transcription	Liver	Liver
25	chr4:56759800-56774200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:56760200-56771600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:56760200-56772600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr4:56760200-56773600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr4:56760400-56772000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:56760400-56772800	Weak transcription	HMEC	breast
31	chr4:56760400-56773600	Weak transcription	Pancreas	Pancrea
32	chr4:56760400-56774400	Weak transcription	Fetal Brain Male	brain
33	chr4:56760400-56775000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:56760600-56772800	Weak transcription	K562	blood
35	chr4:56761800-56773400	Weak transcription	Thymus	Thymus
36	chr4:56762200-56773200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr4:56762200-56776600	Weak transcription	Osteobl	bone
38	chr4:56762400-56773600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr4:56763000-56771800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr4:56764400-56772200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:56764400-56773200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr4:56764400-56773200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr4:56764400-56773200	Weak transcription	Brain Anterior Caudate	brain
44	chr4:56764400-56773200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr4:56764400-56773400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr4:56764400-56773600	Weak transcription	Colon Smooth Muscle	Colon
47	chr4:56765400-56771600	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr4:56765800-56772000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:56765800-56772800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:56766000-56772800	Strong transcription	Duodenum Smooth Muscle	Duodenum

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