Variant report

Variant	rs62305114
Chromosome Location	chr4:56220496-56220497
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:56211148..56230966-chr4:56256626..56269458,54	MCF-7	breast:
2	chr4:56210683..56216526-chr4:56216680..56221548,10	K562	blood:
3	chr4:56220332..56223664-chr4:56260663..56265029,5	K562	blood:
4	chr4:56209954..56216628-chr4:56219638..56226284,12	MCF-7	breast:

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

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11133375	0.81[ASN][1000 genomes]
rs12650678	0.81[ASN][1000 genomes]
rs13124164	0.81[ASN][1000 genomes]
rs13132806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13133010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13138693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13150620	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]
rs4864982	0.81[ASN][1000 genomes]
rs55786762	0.91[EUR][1000 genomes]
rs6554275	0.88[ASN][1000 genomes]
rs7340797	0.87[ASN][1000 genomes]
rs9312660	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv966270	chr4:56215138-56221281	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	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
5	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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56213200-56230000	Weak transcription	Fetal Kidney	kidney
2	chr4:56213400-56223800	Weak transcription	Fetal Heart	heart
3	chr4:56213400-56225400	Weak transcription	Spleen	Spleen
4	chr4:56213400-56233600	Weak transcription	Fetal Intestine Large	intestine
5	chr4:56213600-56221600	Weak transcription	HMEC	breast
6	chr4:56213600-56223000	Weak transcription	Esophagus	oesophagus
7	chr4:56213600-56223000	Weak transcription	HSMM	muscle
8	chr4:56213600-56224000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr4:56213600-56225600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:56213600-56229200	Weak transcription	Fetal Intestine Small	intestine
11	chr4:56213600-56230200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr4:56213600-56230200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:56213600-56242600	Weak transcription	Gastric	stomach
14	chr4:56213800-56221600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:56213800-56223000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr4:56213800-56225200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:56213800-56225600	Weak transcription	Left Ventricle	heart
18	chr4:56213800-56227000	Weak transcription	Placenta	Placenta
19	chr4:56213800-56229800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr4:56213800-56229800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:56213800-56229800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr4:56213800-56231800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr4:56213800-56233600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:56213800-56239000	Weak transcription	Brain Germinal Matrix	brain
25	chr4:56213800-56251400	Weak transcription	Pancreas	Pancrea
26	chr4:56214000-56223400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr4:56214000-56224600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr4:56214000-56225600	Weak transcription	Fetal Muscle Leg	muscle
29	chr4:56214000-56229800	Weak transcription	Liver	Liver
30	chr4:56214000-56229800	Weak transcription	Fetal Thymus	thymus
31	chr4:56214000-56229800	Weak transcription	Thymus	Thymus
32	chr4:56214000-56230200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr4:56214000-56231000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr4:56214000-56237800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr4:56214000-56241800	Weak transcription	Colonic Mucosa	Colon
36	chr4:56214200-56222600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:56214200-56224800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr4:56214400-56247600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:56214600-56224200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr4:56214600-56230200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr4:56214800-56225000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr4:56215000-56221600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:56215000-56222600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:56215000-56223400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr4:56215000-56224200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr4:56215000-56224400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr4:56215000-56225400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr4:56215000-56227400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr4:56215000-56229800	Weak transcription	Brain Angular Gyrus	brain
50	chr4:56215000-56235400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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