Variant report

Variant	rs4845378
Chromosome Location	chr1:154544651-154544652
allele	G/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154543266..154545245-chr1:154578087..154580647,2	MCF-7	breast:
2	chr1:154543850..154545419-chr1:154550254..154552123,2	MCF-7	breast:
3	chr1:154544363..154545938-chr1:154959372..154962138,2	MCF-7	breast:
4	chr1:154529625..154533132-chr1:154541888..154544780,3	K562	blood:
5	chr1:154540365..154542242-chr1:154542275..154545035,2	K562	blood:
6	chr1:154544232..154546095-chr17:57969748..57971747,2	MCF-7	breast:
7	chr1:154376947..154379185-chr1:154542963..154545264,2	MCF-7	breast:
8	chr1:154539579..154545447-chr1:154547241..154552773,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160714	Chromatin interaction
ENSG00000108443	Chromatin interaction
ENSG00000108423	Chromatin interaction
ENSG00000228013	Chromatin interaction
ENSG00000160712	Chromatin interaction
ENSG00000160688	Chromatin interaction
ENSG00000233875	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12072348	0.96[ASN][1000 genomes]
rs2280781	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4074436	0.84[EUR][1000 genomes]
rs4845649	0.82[EUR][1000 genomes]
rs4845652	0.94[EUR][1000 genomes]
rs55908418	0.88[EUR][1000 genomes]
rs61811370	0.94[EUR][1000 genomes]
rs61811371	0.94[EUR][1000 genomes]
rs61811372	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6660775	0.94[EUR][1000 genomes]
rs72698182	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	esv3420395	chr1:154541828-154546226	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154540800-154547000	Weak transcription	Brain Substantia Nigra	brain
2	chr1:154540800-154547400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:154540800-154550600	Weak transcription	Gastric	stomach
4	chr1:154540800-154550800	Weak transcription	HMEC	breast
5	chr1:154540800-154551600	Weak transcription	Pancreas	Pancrea
6	chr1:154541000-154547200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:154541000-154549800	Weak transcription	Right Atrium	heart
8	chr1:154541200-154550800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:154541400-154546800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:154541600-154547200	Weak transcription	Fetal Brain Male	brain
11	chr1:154541800-154545400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:154542000-154547000	Strong transcription	Fetal Brain Female	brain
13	chr1:154542200-154545000	Strong transcription	Brain Germinal Matrix	brain
14	chr1:154542200-154546000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:154542600-154545800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:154542800-154546200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:154542800-154551600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:154543000-154545200	Strong transcription	Brain Inferior Temporal Lobe	brain
19	chr1:154543800-154544800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:154544000-154550200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:154544200-154545000	Weak transcription	Brain Angular Gyrus	brain
22	chr1:154544400-154544800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:154544400-154545000	Weak transcription	Brain Anterior Caudate	brain
24	chr1:154544400-154546800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:154544400-154547000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr1:154544400-154547200	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:154544400-154549600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:154544400-154550000	Weak transcription	A549	lung
29	chr1:154544400-154550200	Weak transcription	Thymus	Thymus
30	chr1:154544400-154550600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:154544400-154551200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr1:154544600-154544800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:154544600-154549800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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