Variant report

Variant	rs13150620
Chromosome Location	chr4:56224546-56224547
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: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	chr4:56211148..56230966-chr4:56256626..56269458,54	MCF-7	breast:
2	chr4:56211857..56214696-chr4:56223596..56227401,3	K562	blood:
3	chr4:56211857..56214149-chr4:56223596..56225330,2	K562	blood:
4	chr4:56217456..56218965-chr4:56223007..56224946,2	MCF-7	breast:
5	chr4:56222589..56224784-chr4:56242075..56244451,2	K562	blood:
6	chr4:56209954..56216628-chr4:56219638..56226284,12	MCF-7	breast:
7	chr4:56222050..56228109-chr4:56258616..56264786,10	MCF-7	breast:
8	chr4:56221889..56224651-chr4:56225282..56227252,2	K562	blood:
9	chr4:56223292..56225715-chr4:56279967..56281699,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000128039	Chromatin interaction
ENSG00000249700	Chromatin interaction
ENSG00000251111	Chromatin interaction
ENSG00000134851	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13132806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13133010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13138693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34459388	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4455482	0.85[EUR][1000 genomes]
rs55786762	0.91[EUR][1000 genomes]
rs62305114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6554275	0.85[ASN][1000 genomes]
rs7340797	0.84[ASN][1000 genomes]
rs9312660	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv999477	chr4:56219035-56397180	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv537101	chr4:56219035-56397180	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56213200-56230000	Weak transcription	Fetal Kidney	kidney
2	chr4:56213400-56225400	Weak transcription	Spleen	Spleen
3	chr4:56213400-56233600	Weak transcription	Fetal Intestine Large	intestine
4	chr4:56213600-56225600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:56213600-56229200	Weak transcription	Fetal Intestine Small	intestine
6	chr4:56213600-56230200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:56213600-56230200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:56213600-56242600	Weak transcription	Gastric	stomach
9	chr4:56213800-56225200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:56213800-56225600	Weak transcription	Left Ventricle	heart
11	chr4:56213800-56227000	Weak transcription	Placenta	Placenta
12	chr4:56213800-56229800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr4:56213800-56229800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr4:56213800-56229800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr4:56213800-56231800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr4:56213800-56233600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:56213800-56239000	Weak transcription	Brain Germinal Matrix	brain
18	chr4:56213800-56251400	Weak transcription	Pancreas	Pancrea
19	chr4:56214000-56224600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr4:56214000-56225600	Weak transcription	Fetal Muscle Leg	muscle
21	chr4:56214000-56229800	Weak transcription	Liver	Liver
22	chr4:56214000-56229800	Weak transcription	Fetal Thymus	thymus
23	chr4:56214000-56229800	Weak transcription	Thymus	Thymus
24	chr4:56214000-56230200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr4:56214000-56231000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:56214000-56237800	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr4:56214000-56241800	Weak transcription	Colonic Mucosa	Colon
28	chr4:56214200-56224800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr4:56214400-56247600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr4:56214600-56230200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:56214800-56225000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:56215000-56225400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr4:56215000-56227400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr4:56215000-56229800	Weak transcription	Brain Angular Gyrus	brain
35	chr4:56215000-56235400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr4:56215200-56225000	Weak transcription	Brain Hippocampus Middle	brain
37	chr4:56218800-56225200	Weak transcription	Brain Substantia Nigra	brain
38	chr4:56219200-56224600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:56219200-56224800	Weak transcription	Brain Anterior Caudate	brain
40	chr4:56219200-56230000	Weak transcription	Fetal Lung	lung
41	chr4:56219400-56238400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:56219600-56224800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr4:56219600-56229800	Weak transcription	Dnd41	blood
44	chr4:56219600-56231000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr4:56220000-56225600	Weak transcription	Fetal Stomach	stomach
46	chr4:56220200-56224600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr4:56220200-56231200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:56220400-56227200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:56220400-56229800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:56220400-56230200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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