Variant report

Variant	rs56023922
Chromosome Location	chr4:87916086-87916087
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:87913434..87916324-chr4:87927780..87929757,3	MCF-7	breast:
2	chr4:87892847..87896142-chr4:87913687..87916404,3	K562	blood:

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10516785	0.82[ASN][1000 genomes]
rs10516786	0.82[ASN][1000 genomes]
rs10516788	0.82[ASN][1000 genomes]
rs1471251	0.80[ASN][1000 genomes]
rs17012200	0.83[ASN][1000 genomes]
rs17012213	0.83[ASN][1000 genomes]
rs17012216	0.82[ASN][1000 genomes]
rs17012234	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17604480	0.82[ASN][1000 genomes]
rs17701999	0.83[ASN][1000 genomes]
rs17752307	0.84[ASN][1000 genomes]
rs3755985	1.00[AFR][1000 genomes]
rs4693801	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs55747890	0.86[AFR][1000 genomes]
rs55787557	0.85[ASN][1000 genomes]
rs55816619	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55851914	0.82[ASN][1000 genomes]
rs55879154	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55913164	0.84[ASN][1000 genomes]
rs56050898	0.83[ASN][1000 genomes]
rs56201818	0.82[ASN][1000 genomes]
rs56378441	0.80[ASN][1000 genomes]
rs56390363	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56395939	0.82[ASN][1000 genomes]
rs56406125	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6819155	0.81[ASN][1000 genomes]
rs6840258	0.81[ASN][1000 genomes]
rs6854749	0.82[ASN][1000 genomes]
rs72667735	0.83[ASN][1000 genomes]
rs72667736	0.83[ASN][1000 genomes]
rs72667737	0.83[ASN][1000 genomes]
rs72667739	0.83[ASN][1000 genomes]
rs72667741	0.80[ASN][1000 genomes]
rs72667747	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72667748	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72667750	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72667751	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72667752	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72667753	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72667754	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72667757	0.83[ASN][1000 genomes]
rs72667759	0.84[ASN][1000 genomes]
rs72667765	0.82[ASN][1000 genomes]
rs7665282	0.84[ASN][1000 genomes]
rs767315	0.82[ASN][1000 genomes]
rs7682652	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7695426	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87872600-87926200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:87882600-87920200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:87892400-87920600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:87894600-87921000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr4:87895400-87920000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr4:87896200-87919200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr4:87896800-87918800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:87899000-87920600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:87899000-87921200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:87899200-87920800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:87899200-87922800	Weak transcription	Osteobl	bone
12	chr4:87899200-87925800	Weak transcription	Hela-S3	cervix
13	chr4:87899200-87926600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:87900000-87924400	Weak transcription	NHEK	skin
15	chr4:87900200-87920800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:87903200-87918800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:87903200-87926200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr4:87903600-87919800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr4:87903600-87921000	Weak transcription	Primary T cells from cord blood	blood
20	chr4:87903800-87919800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr4:87903800-87920000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:87904200-87926200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr4:87904400-87920000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr4:87904600-87917800	Weak transcription	Primary B cells from cord blood	blood
25	chr4:87904600-87921000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr4:87905800-87920200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:87907600-87920000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr4:87910000-87919000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr4:87910000-87921200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:87912800-87920600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:87913000-87916200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:87913000-87919400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr4:87913200-87916400	Enhancers	Liver	Liver
34	chr4:87913200-87916400	Enhancers	HepG2	liver
35	chr4:87913600-87916400	Genic enhancers	Placenta	Placenta
36	chr4:87913800-87919400	Weak transcription	Right Ventricle	heart
37	chr4:87914200-87916200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:87914200-87927400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:87915000-87916200	Enhancers	Fetal Intestine Small	intestine
40	chr4:87915200-87916400	Enhancers	Fetal Intestine Large	intestine
41	chr4:87915200-87916400	Enhancers	Fetal Thymus	thymus
42	chr4:87915200-87916400	Enhancers	K562	blood
43	chr4:87915400-87916200	Enhancers	Thymus	Thymus
44	chr4:87915400-87916200	Strong transcription	Dnd41	blood
45	chr4:87915400-87916400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
46	chr4:87915400-87916400	Enhancers	Left Ventricle	heart
47	chr4:87915400-87916400	Enhancers	Pancreas	Pancrea
48	chr4:87915600-87916200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr4:87915600-87916200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr4:87915600-87916200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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