Variant report

Variant	rs270332
Chromosome Location	chr5:179323578-179323579
allele	A/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179299225..179301692-chr5:179321391..179324247,2	MCF-7	breast:
2	chr5:179321165..179323025-chr5:179323044..179324788,2	MCF-7	breast:
3	chr5:179323291..179325033-chr5:179333692..179335810,3	MCF-7	breast:
4	chr5:179249875..179252190-chr5:179321667..179324524,2	K562	blood:
5	chr5:179232809..179235072-chr5:179322823..179324709,2	MCF-7	breast:
6	chr5:179323028..179325776-chr5:179336197..179338772,2	K562	blood:
7	chr5:179317667..179320098-chr5:179321526..179324368,3	MCF-7	breast:
8	chr5:179320875..179323234-chr5:179323469..179326347,2	MCF-7	breast:
9	chr5:179319580..179322338-chr5:179323209..179324738,2	K562	blood:
10	chr5:179247432..179249386-chr5:179323355..179325915,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197226	Chromatin interaction
ENSG00000161011	Chromatin interaction
ENSG00000161013	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11956186	1.00[EUR][1000 genomes]
rs17079774	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs269469	1.00[EUR][1000 genomes]
rs269470	1.00[EUR][1000 genomes]
rs269472	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs270329	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs270330	0.81[AMR][1000 genomes]
rs35754287	1.00[EUR][1000 genomes]
rs384668	1.00[EUR][1000 genomes]
rs390256	1.00[EUR][1000 genomes]
rs393065	1.00[EUR][1000 genomes]
rs407437	1.00[EUR][1000 genomes]
rs460899	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61160471	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179287200-179333600	Weak transcription	Right Atrium	heart
2	chr5:179289600-179328000	Strong transcription	Adipose Nuclei	Adipose
3	chr5:179295200-179334000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:179309200-179327200	Strong transcription	Brain Angular Gyrus	brain
5	chr5:179309800-179326400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:179310200-179327400	Strong transcription	Brain Inferior Temporal Lobe	brain
7	chr5:179310400-179326800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:179310400-179332000	Strong transcription	Fetal Intestine Large	intestine
9	chr5:179310600-179326800	Strong transcription	Brain Substantia Nigra	brain
10	chr5:179310600-179327400	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr5:179310800-179327200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr5:179310800-179331400	Strong transcription	Primary T cells from cord blood	blood
13	chr5:179311000-179325000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:179311000-179326800	Strong transcription	Brain Cingulate Gyrus	brain
15	chr5:179311000-179326800	Strong transcription	Brain Hippocampus Middle	brain
16	chr5:179311000-179328200	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr5:179311000-179332000	Strong transcription	Stomach Smooth Muscle	stomach
18	chr5:179311000-179332600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:179311200-179328200	Strong transcription	Osteobl	bone
20	chr5:179311200-179332000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:179311200-179332000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:179311400-179323600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr5:179311400-179327400	Strong transcription	Fetal Thymus	thymus
24	chr5:179311400-179332000	Strong transcription	Duodenum Mucosa	Duodenum
25	chr5:179311400-179332400	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr5:179311400-179333800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:179311600-179332000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr5:179311600-179332000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:179311600-179332200	Strong transcription	Primary B cells from peripheral blood	blood
30	chr5:179311600-179332200	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:179311800-179326800	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr5:179311800-179326800	Strong transcription	Fetal Muscle Trunk	muscle
33	chr5:179311800-179327000	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr5:179311800-179332000	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr5:179311800-179332200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:179312000-179327800	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr5:179312000-179329400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:179312000-179331800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr5:179312000-179332000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr5:179312000-179332000	Strong transcription	Fetal Brain Female	brain
41	chr5:179312000-179332400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:179312000-179333000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:179312000-179333400	Weak transcription	Fetal Brain Male	brain
44	chr5:179312200-179326000	Weak transcription	Fetal Heart	heart
45	chr5:179312200-179326800	Strong transcription	Fetal Muscle Leg	muscle
46	chr5:179312200-179329200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:179312200-179332400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:179312200-179333200	Strong transcription	Placenta	Placenta
49	chr5:179312400-179329200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr5:179312800-179331800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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