Variant report

Variant	rs11724565
Chromosome Location	chr4:56227146-56227147
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	chr4:56221889..56224651-chr4:56225282..56227252,2	K562	blood:
3	chr4:56211857..56214696-chr4:56223596..56227401,3	K562	blood:
4	chr4:56222050..56228109-chr4:56258616..56264786,10	MCF-7	breast:

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

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11721546	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11733128	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs471546	0.88[ASN][1000 genomes]
rs4864984	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs491381	0.88[ASN][1000 genomes]
rs504836	0.88[ASN][1000 genomes]
rs505861	0.88[ASN][1000 genomes]
rs532768	0.88[ASN][1000 genomes]
rs534654	0.88[ASN][1000 genomes]
rs549564	0.88[ASN][1000 genomes]
rs566240	0.88[ASN][1000 genomes]
rs6554276	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66630638	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67180787	0.80[ASN][1000 genomes]
rs711533	0.88[ASN][1000 genomes]
rs73236137	0.88[ASN][1000 genomes]
rs7664496	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7672647	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7673897	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7692795	0.88[ASN][1000 genomes]
rs7697835	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56213200-56230000	Weak transcription	Fetal Kidney	kidney
2	chr4:56213400-56233600	Weak transcription	Fetal Intestine Large	intestine
3	chr4:56213600-56229200	Weak transcription	Fetal Intestine Small	intestine
4	chr4:56213600-56230200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:56213600-56230200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:56213600-56242600	Weak transcription	Gastric	stomach
7	chr4:56213800-56229800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:56213800-56229800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:56213800-56229800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:56213800-56231800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr4:56213800-56233600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:56213800-56239000	Weak transcription	Brain Germinal Matrix	brain
13	chr4:56213800-56251400	Weak transcription	Pancreas	Pancrea
14	chr4:56214000-56229800	Weak transcription	Liver	Liver
15	chr4:56214000-56229800	Weak transcription	Fetal Thymus	thymus
16	chr4:56214000-56229800	Weak transcription	Thymus	Thymus
17	chr4:56214000-56230200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr4:56214000-56231000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:56214000-56237800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr4:56214000-56241800	Weak transcription	Colonic Mucosa	Colon
21	chr4:56214400-56247600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:56214600-56230200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:56215000-56227400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr4:56215000-56229800	Weak transcription	Brain Angular Gyrus	brain
25	chr4:56215000-56235400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr4:56219200-56230000	Weak transcription	Fetal Lung	lung
27	chr4:56219400-56238400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:56219600-56229800	Weak transcription	Dnd41	blood
29	chr4:56219600-56231000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr4:56220200-56231200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:56220400-56227200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:56220400-56229800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:56220400-56230200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:56220800-56241400	Weak transcription	Primary T cells from cord blood	blood
35	chr4:56221000-56230000	Weak transcription	Fetal Brain Female	brain
36	chr4:56221800-56230200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr4:56223200-56227400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:56223400-56231400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr4:56225400-56231200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr4:56225600-56228200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:56225600-56229400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:56225600-56230000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr4:56225600-56235400	Weak transcription	Right Ventricle	heart
44	chr4:56225600-56237800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr4:56225800-56228200	Strong transcription	Fetal Stomach	stomach
46	chr4:56225800-56230200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr4:56225800-56231600	Weak transcription	Spleen	Spleen
48	chr4:56225800-56233000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr4:56225800-56235600	Weak transcription	Aorta	Aorta
50	chr4:56225800-56236800	Weak transcription	Colon Smooth Muscle	Colon

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