Variant report

Variant	rs557015310
Chromosome Location	chr5:179497870-179497871
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179160317..179162813-chr5:179497518..179499972,2	K562	blood:
2	chr5:154133591..154135701-chr5:179497285..179498805,3	MCF-7	breast:
3	chr5:179233833..179236734-chr5:179497569..179499660,2	MCF-7	breast:
4	chr5:179404319..179405843-chr5:179497809..179500320,2	K562	blood:
5	chr5:179496103..179499035-chr5:179510851..179514542,4	K562	blood:
6	chr5:179467128..179469131-chr5:179495464..179498336,2	MCF-7	breast:
7	chr5:179246093..179248273-chr5:179497691..179500264,2	MCF-7	breast:
8	chr5:179332761..179336643-chr5:179497180..179500753,5	MCF-7	breast:
9	chr5:179285948..179288985-chr5:179497401..179500729,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000161021	Chromatin interaction
ENSG00000161013	Chromatin interaction
ENSG00000113269	Chromatin interaction
ENSG00000155506	Chromatin interaction
ENSG00000253480	Chromatin interaction
ENSG00000245317	Chromatin interaction
ENSG00000161011	Chromatin interaction
ENSG00000197226	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	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
2	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
3	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
4	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
5	nsv830561	chr5:179365637-179537012	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
6	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
7	nsv1024592	chr5:179443133-179510642	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	esv3396669	chr5:179497796-179500194	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	esv3340100	chr5:179497871-179500719	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 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	chr5:179494800-179498400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:179495200-179498400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:179495400-179499400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:179495600-179499200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr5:179495800-179499000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr5:179495800-179499200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:179496200-179498000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr5:179496200-179498000	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr5:179496400-179498400	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr5:179496400-179498400	Bivalent/Poised TSS	GM12878-XiMat	blood
11	chr5:179496600-179498000	Flanking Active TSS	Fetal Kidney	kidney
12	chr5:179496600-179498200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:179496600-179498200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr5:179496600-179498400	Flanking Active TSS	K562	blood
15	chr5:179496600-179498400	Flanking Active TSS	NH-A	brain
16	chr5:179496600-179499200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:179496600-179499200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:179496600-179499400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:179496800-179498000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:179496800-179498000	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr5:179496800-179498000	Enhancers	Esophagus	oesophagus
22	chr5:179496800-179498000	Flanking Active TSS	Fetal Muscle Leg	muscle
23	chr5:179496800-179498000	Enhancers	Spleen	Spleen
24	chr5:179496800-179498000	Flanking Active TSS	A549	lung
25	chr5:179496800-179498200	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr5:179496800-179498200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr5:179496800-179498400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr5:179496800-179499200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:179496800-179499400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:179496800-179499400	Active TSS	Brain Substantia Nigra	brain
31	chr5:179496800-179499600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:179497000-179498000	Enhancers	Primary T cells fromperipheralblood	blood
33	chr5:179497000-179498000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:179497000-179498000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr5:179497000-179498000	Active TSS	Brain Germinal Matrix	brain
36	chr5:179497000-179498000	Flanking Active TSS	HUVEC	blood vessel
37	chr5:179497000-179498200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:179497000-179498200	Flanking Active TSS	Osteobl	bone
39	chr5:179497000-179498400	Active TSS	Fetal Brain Male	brain
40	chr5:179497000-179499200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:179497000-179499200	Active TSS	Brain Cingulate Gyrus	brain
42	chr5:179497000-179499200	Active TSS	Fetal Muscle Trunk	muscle
43	chr5:179497000-179499400	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr5:179497000-179499400	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr5:179497200-179498000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:179497200-179498000	Flanking Active TSS	Fetal Intestine Large	intestine
47	chr5:179497200-179498000	Flanking Active TSS	Placenta	Placenta
48	chr5:179497200-179498000	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr5:179497200-179498200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr5:179497200-179498200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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