Variant report

Variant	rs180891868
Chromosome Location	chr4:57396803-57396804
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:57297760..57299581-chr4:57396785..57398752,2	MCF-7	breast:
2	chr4:57332142..57335262-chr4:57394352..57398997,8	K562	blood:
3	chr4:57331783..57334990-chr4:57394745..57398997,7	K562	blood:
4	chr4:57299474..57303800-chr4:57395386..57399526,7	K562	blood:
5	chr4:57298757..57303397-chr4:57395270..57398462,7	K562	blood:
6	chr4:57396793..57399968-chr4:57400354..57402510,5	K562	blood:
7	chr4:57251883..57253946-chr4:57396755..57399062,3	K562	blood:

Variant related genes	Relation type
ENSG00000174780	Chromatin interaction
ENSG00000157426	Chromatin interaction
ENSG00000128050	Chromatin interaction
ENSG00000128059	Chromatin interaction
ENSG00000269921	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv530121	chr4:57167367-57695576	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv829941	chr4:57359551-57553136	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv3447654	chr4:57395445-57397943	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57395800-57397200	Active TSS	Brain Anterior Caudate	brain
2	chr4:57396200-57397000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:57396200-57397000	Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr4:57396200-57397000	Active TSS	Muscle Satellite Cultured Cells	--
5	chr4:57396200-57397000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:57396200-57397000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:57396200-57397000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:57396200-57397000	Active TSS	Brain Hippocampus Middle	brain
9	chr4:57396200-57397000	Active TSS	Colonic Mucosa	Colon
10	chr4:57396200-57397000	Active TSS	Ovary	ovary
11	chr4:57396200-57397000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
12	chr4:57396200-57397000	Active TSS	Right Atrium	heart
13	chr4:57396200-57397000	Active TSS	Right Ventricle	heart
14	chr4:57396200-57397000	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
15	chr4:57396200-57397000	Active TSS	NHLF	lung
16	chr4:57396200-57397000	Bivalent/Poised TSS	Osteobl	bone
17	chr4:57396200-57397200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:57396200-57397200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr4:57396200-57397200	Active TSS	Brain Angular Gyrus	brain
20	chr4:57396200-57397200	Active TSS	Brain Cingulate Gyrus	brain
21	chr4:57396200-57397200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr4:57396200-57397200	Active TSS	Colon Smooth Muscle	Colon
23	chr4:57396200-57397200	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr4:57396200-57397200	Active TSS	Fetal Brain Female	brain
25	chr4:57396200-57397200	Active TSS	Fetal Heart	heart
26	chr4:57396200-57397200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
27	chr4:57396200-57397200	Active TSS	Fetal Lung	lung
28	chr4:57396200-57397200	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr4:57396200-57397200	Active TSS	A549	lung
30	chr4:57396200-57397400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr4:57396200-57397400	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr4:57396200-57397400	Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr4:57396200-57397400	Active TSS	Brain Substantia Nigra	brain
34	chr4:57396200-57397400	Active TSS	Psoas Muscle	Psoas
35	chr4:57396200-57397400	Active TSS	NHDF-Ad	bronchial
36	chr4:57396200-57397600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
37	chr4:57396200-57397600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:57396200-57397600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
39	chr4:57396200-57397600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr4:57396200-57397600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:57396200-57397600	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr4:57396200-57397600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr4:57396200-57397600	Active TSS	Aorta	Aorta
44	chr4:57396200-57397600	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr4:57396200-57397600	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr4:57396200-57397800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
47	chr4:57396200-57397800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:57396200-57397800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
49	chr4:57396200-57397800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
50	chr4:57396200-57397800	Bivalent/Poised TSS	Fetal Kidney	kidney

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