Variant report

Variant	rs34459388
Chromosome Location	chr4:56218103-56218104
allele	A/G
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	chr4:56216631..56219343-chr4:56262936..56265336,2	K562	blood:
4	chr4:56211242..56218739-chr4:56258356..56267013,28	MCF-7	breast:
5	chr4:56211498..56213604-chr4:56215998..56219144,5	MCF-7	breast:
6	chr4:56216631..56219493-chr4:56263836..56266245,2	K562	blood:

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

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13132806	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13133010	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13138693	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13150620	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34929896	0.80[EUR][1000 genomes]
rs4455482	0.83[EUR][1000 genomes]
rs55786762	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62305114	0.80[AMR][1000 genomes];0.94[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	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

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56213200-56219000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:56213200-56230000	Weak transcription	Fetal Kidney	kidney
3	chr4:56213400-56223800	Weak transcription	Fetal Heart	heart
4	chr4:56213400-56225400	Weak transcription	Spleen	Spleen
5	chr4:56213400-56233600	Weak transcription	Fetal Intestine Large	intestine
6	chr4:56213600-56219200	Weak transcription	Primary T cells from cord blood	blood
7	chr4:56213600-56221600	Weak transcription	HMEC	breast
8	chr4:56213600-56223000	Weak transcription	Esophagus	oesophagus
9	chr4:56213600-56223000	Weak transcription	HSMM	muscle
10	chr4:56213600-56224000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:56213600-56225600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:56213600-56229200	Weak transcription	Fetal Intestine Small	intestine
13	chr4:56213600-56230200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:56213600-56230200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:56213600-56242600	Weak transcription	Gastric	stomach
16	chr4:56213800-56218600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr4:56213800-56221600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:56213800-56223000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr4:56213800-56225200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr4:56213800-56225600	Weak transcription	Left Ventricle	heart
21	chr4:56213800-56227000	Weak transcription	Placenta	Placenta
22	chr4:56213800-56229800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr4:56213800-56229800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:56213800-56229800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr4:56213800-56231800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr4:56213800-56233600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr4:56213800-56239000	Weak transcription	Brain Germinal Matrix	brain
28	chr4:56213800-56251400	Weak transcription	Pancreas	Pancrea
29	chr4:56214000-56223400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr4:56214000-56224600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr4:56214000-56225600	Weak transcription	Fetal Muscle Leg	muscle
32	chr4:56214000-56229800	Weak transcription	Liver	Liver
33	chr4:56214000-56229800	Weak transcription	Fetal Thymus	thymus
34	chr4:56214000-56229800	Weak transcription	Thymus	Thymus
35	chr4:56214000-56230200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr4:56214000-56231000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr4:56214000-56237800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr4:56214000-56241800	Weak transcription	Colonic Mucosa	Colon
39	chr4:56214200-56222600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:56214200-56224800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr4:56214400-56247600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr4:56214600-56219800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:56214600-56224200	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr4:56214600-56230200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr4:56214800-56225000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr4:56215000-56218400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr4:56215000-56218400	Weak transcription	Brain Substantia Nigra	brain
48	chr4:56215000-56221600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:56215000-56222600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:56215000-56223400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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