Variant report

Variant	rs548141500
Chromosome Location	chr5:179334019-179334020
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 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	chr2:191746477..191747283-chr5:179333954..179334548,2	Hela-S3	cervix:
14	chr5:179333483..179336002-chr5:179498536..179500364,3	K562	blood:
15	chr5:179332761..179336643-chr5:179497180..179500753,5	MCF-7	breast:
16	chr5:179297068..179300274-chr5:179333410..179335141,3	MCF-7	breast:
17	chr5:179297185..179299708-chr5:179331980..179334560,2	K562	blood:
18	chr5:179220191..179222591-chr5:179331659..179334767,3	MCF-7	breast:
19	chr5:179332164..179334090-chr5:179510604..179512176,2	MCF-7	breast:
20	chr5:179263833..179265352-chr5:179332066..179334694,2	K562	blood:
21	chr5:179247476..179250281-chr5:179333231..179336105,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000161011	Chromatin interaction
ENSG00000213316	Chromatin interaction
ENSG00000245317	Chromatin interaction
ENSG00000197226	Chromatin interaction
ENSG00000113269	Chromatin interaction
ENSG00000161013	Chromatin interaction
ENSG00000235852	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000161010	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179333200-179334200	Flanking Active TSS	Hela-S3	cervix
2	chr5:179333200-179334400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:179333200-179334400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:179333400-179334200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:179333400-179334200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr5:179333400-179334200	Flanking Active TSS	Brain Cingulate Gyrus	brain
7	chr5:179333400-179334200	Flanking Active TSS	Brain Hippocampus Middle	brain
8	chr5:179333400-179334200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:179333400-179334200	Flanking Active TSS	Colon Smooth Muscle	Colon
10	chr5:179333400-179334200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr5:179333400-179334200	Enhancers	Fetal Heart	heart
12	chr5:179333400-179334200	Flanking Active TSS	HMEC	breast
13	chr5:179333400-179334200	Flanking Active TSS	HUVEC	blood vessel
14	chr5:179333400-179334200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr5:179333400-179334400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:179333400-179334400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:179333400-179334400	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr5:179333400-179334400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr5:179333400-179334400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr5:179333400-179335400	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr5:179333600-179334200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr5:179333600-179334200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:179333600-179334200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:179333600-179334200	Flanking Active TSS	Brain Angular Gyrus	brain
25	chr5:179333600-179334200	Flanking Active TSS	Esophagus	oesophagus
26	chr5:179333600-179334200	Flanking Active TSS	Fetal Brain Female	brain
27	chr5:179333600-179334200	Flanking Active TSS	Fetal Thymus	thymus
28	chr5:179333600-179334200	Flanking Active TSS	Rectal Smooth Muscle	rectum
29	chr5:179333600-179334200	Flanking Active TSS	HSMMtube	muscle
30	chr5:179333600-179334200	Flanking Active TSS	NH-A	brain
31	chr5:179333600-179334200	Flanking Active TSS	NHDF-Ad	bronchial
32	chr5:179333600-179334200	Flanking Active TSS	NHLF	lung
33	chr5:179333600-179334400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:179333600-179334400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
35	chr5:179333600-179334400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr5:179333600-179334400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr5:179333600-179334400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr5:179333600-179334400	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr5:179333600-179334400	Flanking Active TSS	Colonic Mucosa	Colon
40	chr5:179333600-179334400	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr5:179333600-179334400	Flanking Active TSS	Fetal Muscle Trunk	muscle
42	chr5:179333600-179334400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr5:179333600-179334400	Flanking Active TSS	K562	blood
44	chr5:179333600-179335200	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr5:179333600-179335400	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr5:179333800-179334200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
47	chr5:179333800-179334200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:179333800-179334200	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr5:179333800-179334200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:179333800-179334200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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