Variant report

Variant	rs533121100
Chromosome Location	chr5:179333887-179333888
allele	A/G
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179263833..179265410-chr5:179333194..179335753,2	K562	blood:
2	chr5:179227831..179231343-chr5:179333679..179336075,3	MCF-7	breast:
3	chr5:179231022..179234564-chr5:179332456..179334964,4	MCF-7	breast:
4	chr5:179284415..179287305-chr5:179333085..179336223,5	MCF-7	breast:
5	chr5:179231951..179234998-chr5:179332268..179335922,5	MCF-7	breast:
6	chr5:179312827..179319105-chr5:179330918..179335028,6	MCF-7	breast:
7	chr5:179333483..179336281-chr5:179498634..179500565,2	K562	blood:
8	chr5:179232711..179234875-chr5:179332233..179334161,2	K562	blood:
9	chr5:179325019..179329362-chr5:179330614..179334824,8	K562	blood:
10	chr5:179246876..179249284-chr5:179332914..179335716,2	MCF-7	breast:
11	chr5:179284572..179287253-chr5:179332885..179335031,4	MCF-7	breast:
12	chr5:179126146..179127712-chr5:179333460..179335651,2	MCF-7	breast:
13	chr5:179333483..179336002-chr5:179498536..179500364,3	K562	blood:
14	chr5:179332761..179336643-chr5:179497180..179500753,5	MCF-7	breast:
15	chr5:179297068..179300274-chr5:179333410..179335141,3	MCF-7	breast:
16	chr5:179297185..179299708-chr5:179331980..179334560,2	K562	blood:
17	chr5:179220191..179222591-chr5:179331659..179334767,3	MCF-7	breast:
18	chr5:179332164..179334090-chr5:179510604..179512176,2	MCF-7	breast:
19	chr5:179263833..179265352-chr5:179332066..179334694,2	K562	blood:
20	chr5:179247476..179250281-chr5:179333231..179336105,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000213316	Chromatin interaction
ENSG00000161010	Chromatin interaction
ENSG00000197226	Chromatin interaction
ENSG00000113269	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000161013	Chromatin interaction
ENSG00000245317	Chromatin interaction
ENSG00000161011	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	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
3	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
4	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
6	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
7	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
8	esv3357023	chr5:179333371-179336219	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
9	esv3375542	chr5:179333746-179336144	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179295200-179334000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:179332000-179334000	Weak transcription	Aorta	Aorta
3	chr5:179333000-179334000	Enhancers	Primary B cells from peripheral blood	blood
4	chr5:179333000-179334000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:179333200-179334000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:179333200-179334000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:179333200-179334000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr5:179333200-179334000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:179333200-179334000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr5:179333200-179334000	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr5:179333200-179334000	Enhancers	Small Intestine	intestine
12	chr5:179333200-179334000	Flanking Active TSS	Thymus	Thymus
13	chr5:179333200-179334000	Transcr. at gene 5' and 3'	Dnd41	blood
14	chr5:179333200-179334000	Flanking Active TSS	GM12878-XiMat	blood
15	chr5:179333200-179334000	Flanking Active TSS	HepG2	liver
16	chr5:179333200-179334200	Flanking Active TSS	Hela-S3	cervix
17	chr5:179333200-179334400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:179333200-179334400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:179333400-179334000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr5:179333400-179334000	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr5:179333400-179334000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:179333400-179334200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:179333400-179334200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr5:179333400-179334200	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr5:179333400-179334200	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr5:179333400-179334200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:179333400-179334200	Flanking Active TSS	Colon Smooth Muscle	Colon
28	chr5:179333400-179334200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr5:179333400-179334200	Enhancers	Fetal Heart	heart
30	chr5:179333400-179334200	Flanking Active TSS	HMEC	breast
31	chr5:179333400-179334200	Flanking Active TSS	HUVEC	blood vessel
32	chr5:179333400-179334200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr5:179333400-179334400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:179333400-179334400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:179333400-179334400	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr5:179333400-179334400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr5:179333400-179334400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr5:179333400-179335400	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr5:179333600-179334000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:179333600-179334000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:179333600-179334000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr5:179333600-179334000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:179333600-179334000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:179333600-179334000	Active TSS	Primary T cells from cord blood	blood
45	chr5:179333600-179334000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:179333600-179334000	Flanking Active TSS	Fetal Intestine Large	intestine
47	chr5:179333600-179334000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
48	chr5:179333600-179334000	Enhancers	Fetal Lung	lung
49	chr5:179333600-179334000	Enhancers	Left Ventricle	heart
50	chr5:179333600-179334000	Enhancers	Sigmoid Colon	Sigmoid Colon

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