Variant report

Variant	rs192060793
Chromosome Location	chr4:56772083-56772084
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
ENSG00000090989	Chromatin interaction
ENSG00000222954	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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:104 , 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	chr4:56748000-56773200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr4:56748200-56773400	Weak transcription	Gastric	stomach
11	chr4:56748600-56773000	Weak transcription	Right Ventricle	heart
12	chr4:56748600-56773200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr4:56748600-56773400	Weak transcription	Colonic Mucosa	Colon
14	chr4:56748600-56776800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:56751400-56776200	Weak transcription	A549	lung
16	chr4:56754800-56772800	Strong transcription	Placenta	Placenta
17	chr4:56755800-56772200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:56756000-56773200	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr4:56756600-56773200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:56758000-56772800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:56758600-56773200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:56758800-56772800	Strong transcription	Liver	Liver
23	chr4:56759800-56774200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:56760200-56772600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr4:56760200-56773600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr4:56760400-56772800	Weak transcription	HMEC	breast
27	chr4:56760400-56773600	Weak transcription	Pancreas	Pancrea
28	chr4:56760400-56774400	Weak transcription	Fetal Brain Male	brain
29	chr4:56760400-56775000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:56760600-56772800	Weak transcription	K562	blood
31	chr4:56761800-56773400	Weak transcription	Thymus	Thymus
32	chr4:56762200-56773200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr4:56762200-56776600	Weak transcription	Osteobl	bone
34	chr4:56762400-56773600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr4:56764400-56772200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:56764400-56773200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr4:56764400-56773200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr4:56764400-56773200	Weak transcription	Brain Anterior Caudate	brain
39	chr4:56764400-56773200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:56764400-56773400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr4:56764400-56773600	Weak transcription	Colon Smooth Muscle	Colon
42	chr4:56765800-56772800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:56766000-56772800	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr4:56766400-56773000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr4:56766600-56772800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:56766800-56773200	Weak transcription	NH-A	brain
47	chr4:56766800-56786800	Weak transcription	Ovary	ovary
48	chr4:56767000-56773000	Strong transcription	Primary B cells from cord blood	blood
49	chr4:56767400-56773000	Weak transcription	HUVEC	blood vessel
50	chr4:56767400-56773400	Weak transcription	Brain Angular Gyrus	brain

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